Unique variants in gene SDHB

Information The variants shown are described using the NM_003000.2 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-37T>C r.(=) p.(=) g.17380551A>G Copied from the Exome Variant Server SDHB_000065 54/12976 5/8584 49/4392
1 c.-34G>T r.(=) p.(=) g.17380548C>A Copied from the Exome Variant Server SDHB_000064 1/12978 1/8586 0/4392
1 c.-8G>C r.(=) p.(=) g.17380522C>G Copied from the Exome Variant Server SDHB_000063 1/12998 1/8596 0/4402
1 c.8C>G r.(?) p.(Ala3Gly) g.17380507G>C Copied from the Exome Variant Server SDHB_000062 172/12998 1/8596 171/4402
1 c.18C>A r.(=) p.(=) g.17380497G>T Copied from the Exome Variant Server SDHB_000061 12371/13002 8366/8598 4005/4404
1 c.21C>T r.(=) p.(=) g.17380494G>A Copied from the Exome Variant Server SDHB_000060 9/13000 8/8596 1/4404
1 c.24C>T r.(=) p.(=) g.17380491G>A Copied from the Exome Variant Server SDHB_000059 71/13000 65/8596 6/4404
1 c.32G>A r.(?) p.(Arg11His) g.17380483C>T Copied from the Exome Variant Server SDHB_000058 30/13002 0/8596 30/4406
1 c.33C>T r.(=) p.(=) g.17380482G>A Copied from the Exome Variant Server SDHB_000057 1/13004 0/8598 1/4406
1 c.50C>T r.(?) p.(Thr17Ile) g.17380465G>A Copied from the Exome Variant Server SDHB_000056 1/13006 1/8600 0/4406
1 c.65G>C r.(?) p.(Cys22Ser) g.17380450C>G Copied from the Exome Variant Server SDHB_000055 7/13006 0/8600 7/4406
1 c.72+30G>C r.(=) p.(=) g.17380413C>G Copied from the Exome Variant Server SDHB_000054 1/13004 1/8598 0/4406
1 c.72+49C>G r.(=) p.(=) g.17380394G>C Copied from the Exome Variant Server SDHB_000053 1/12986 0/8594 1/4392
1 c.73-29del r.(=) p.(=) g.17371412del Copied from the Exome Variant Server SDHB_000052 58/12508 40/8248 18/4260
1 c.73-10A>C r.(=) p.(=) g.17371393T>G Copied from the Exome Variant Server SDHB_000051 1/13004 1/8600 0/4404
1 c.79C>G r.(?) p.(Arg27Gly) g.17371377G>C Copied from the Exome Variant Server SDHB_000050 2/13006 2/8600 0/4406
1 c.80G>A r.(?) p.(Arg27Gln) g.17371376C>T Copied from the Exome Variant Server SDHB_000049 1/13006 1/8600 0/4406
1 c.113G>A r.(?) p.(Arg38His) g.17371343C>T Copied from the Exome Variant Server SDHB_000048 2/13006 2/8600 0/4406
1 c.123A>G r.(=) p.(=) g.17371333T>C Copied from the Exome Variant Server SDHB_000047 1/13006 0/8600 1/4406
1 c.158G>A r.(?) p.(Gly53Glu) g.17371298C>T Copied from the Exome Variant Server SDHB_000046 7/13006 7/8600 0/4406
1 c.170A>G r.(?) p.(His57Arg) g.17371286T>C Copied from the Exome Variant Server SDHB_000045 37/13006 0/8600 37/4406
1 c.178A>G r.(?) p.(Thr60Ala) g.17371278T>C Copied from the Exome Variant Server SDHB_000044 2/13006 2/8600 0/4406
1 c.200+7A>G r.(=) p.(=) g.17371249T>C Copied from the Exome Variant Server SDHB_000043 1/13006 0/8600 1/4406
1 c.200+33G>A r.(=) p.(=) g.17371223C>T Copied from the Exome Variant Server SDHB_000042 1402/13006 670/8600 732/4406
1 c.200+35G>A r.(=) p.(=) g.17371221C>T Copied from the Exome Variant Server SDHB_000041 351/13006 322/8600 29/4406
1 c.200+44A>C r.(=) p.(=) g.17371212T>G Copied from the Exome Variant Server SDHB_000040 2/13006 2/8600 0/4406
1 c.201-36G>T r.(=) p.(=) g.17359676C>A Copied from the Exome Variant Server SDHB_000039 12386/13006 8366/8600 4020/4406
1 c.225T>C r.(=) p.(=) g.17359616A>G Copied from the Exome Variant Server SDHB_000038 1/13006 1/8600 0/4406
1 c.286+16C>T r.(=) p.(=) g.17359539G>A Copied from the Exome Variant Server SDHB_000037 1/13006 1/8600 0/4406
1 c.286+36G>A r.(=) p.(=) g.17359519C>T Copied from the Exome Variant Server SDHB_000036 2/13006 0/8600 2/4406
1 c.287-34G>A r.(=) p.(=) g.17355265C>T Copied from the Exome Variant Server SDHB_000035 1/13006 0/8600 1/4406
1 c.287-26A>G r.(=) p.(=) g.17355257T>C Copied from the Exome Variant Server SDHB_000034 5/13006 4/8600 1/4406
1 c.287-4T>C r.spl? p.? g.17355235A>G Copied from the Exome Variant Server SDHB_000033 1/13006 1/8600 0/4406
1 c.300T>C r.(=) p.(=) g.17355218A>G Copied from the Exome Variant Server SDHB_000032 32/13006 31/8600 1/4406
1 c.307A>G r.(?) p.(Met103Val) g.17355211T>C Copied from the Exome Variant Server SDHB_000031 1/13006 0/8600 1/4406
1 c.311_312insG r.(?) p.(Asn104Lysfs*15) g.17355206_17355207insC Copied from the Exome Variant Server SDHB_000030 1/12520 1/8254 0/4266
1 c.423C>T r.(=) p.(=) g.17355095G>A Copied from the Exome Variant Server SDHB_000029 3/13006 1/8600 2/4406
1 c.423+19_423+20del r.(=) p.(=) g.17355075_17355076del Copied from the Exome Variant Server SDHB_000028 1/12520 0/8254 1/4266
1 c.423+20T>A r.(=) p.(=) g.17355075A>T Copied from the Exome Variant Server SDHB_000027 28/13006 27/8600 1/4406
1 c.423+45G>A r.(=) p.(=) g.17355050C>T Copied from the Exome Variant Server SDHB_000026 4/13006 0/8600 4/4406
1 c.424-19_424-17del r.(=) p.(=) g.17354377_17354379del Copied from the Exome Variant Server SDHB_000025 810/12520 586/8254 224/4266
1 c.424-19_424-17dup r.(=) p.(=) g.17354377_17354379dup Copied from the Exome Variant Server SDHB_000024 19/12520 14/8254 5/4266
1 c.424-19_424-14del r.(=) p.(=) g.17354374_17354379del Copied from the Exome Variant Server SDHB_000022 50/12520 41/8254 9/4266
1 c.424-19_424-14dup r.(=) p.(=) g.17354374_17354379dup Copied from the Exome Variant Server SDHB_000023 48/12520 43/8254 5/4266
1 c.424-6C>T r.(=) p.(=) g.17354366G>A Copied from the Exome Variant Server SDHB_000021 1/13006 0/8600 1/4406
1 c.455C>T r.(?) p.(Ser152Phe) g.17354329G>A Copied from the Exome Variant Server SDHB_000020 4/13006 0/8600 4/4406
1 c.487T>C r.(?) p.(Ser163Pro) g.17354297A>G Copied from the Exome Variant Server SDHB_000019 124/13006 112/8600 12/4406
1 c.516G>A r.(=) p.(=) g.17354268C>T Copied from the Exome Variant Server SDHB_000018 1/13006 0/8600 1/4406
1 c.529C>T r.(?) p.(Arg177Cys) g.17354255G>A Copied from the Exome Variant Server SDHB_000017 1/13006 1/8600 0/4406
1 c.530G>A r.(?) p.(Arg177His) g.17354254C>T Copied from the Exome Variant Server SDHB_000016 1/13006 0/8600 1/4406
1 c.540+27A>C r.(=) p.(=) g.17354217T>G Copied from the Exome Variant Server SDHB_000015 1/13006 1/8600 0/4406
1 c.541-39C>G r.(=) p.(=) g.17350608G>C Copied from the Exome Variant Server SDHB_000014 2/13004 0/8598 2/4406
1 c.543C>T r.(=) p.(=) g.17350567G>A Copied from the Exome Variant Server SDHB_000013 1/13006 0/8600 1/4406
1 c.552C>T r.(=) p.(=) g.17350558G>A Copied from the Exome Variant Server SDHB_000012 2/13006 2/8600 0/4406
1 c.642+15A>G r.(=) p.(=) g.17350453T>C Copied from the Exome Variant Server SDHB_000011 1/13006 1/8600 0/4406
1 c.642+17T>C r.(=) p.(=) g.17350451A>G Copied from the Exome Variant Server SDHB_000010 3/13006 3/8600 0/4406
1 c.642+49A>T r.(=) p.(=) g.17350419T>A Copied from the Exome Variant Server SDHB_000009 1/13006 1/8600 0/4406
1 c.643-36G>A r.(=) p.(=) g.17349261C>T Copied from the Exome Variant Server SDHB_000008 1/13006 1/8600 0/4406
1 c.643-7T>C r.(=) p.(=) g.17349232A>G Copied from the Exome Variant Server SDHB_000007 1/13006 0/8600 1/4406
1 c.702G>A r.(=) p.(=) g.17349166C>T Copied from the Exome Variant Server SDHB_000006 1/13006 0/8600 1/4406
1 c.716C>G r.(?) p.(Ser239Cys) g.17349152G>C Copied from the Exome Variant Server SDHB_000005 1/13006 1/8600 0/4406
1 c.736A>G r.(?) p.(Ile246Val) g.17349132T>C Copied from the Exome Variant Server SDHB_000004 1/13006 0/8600 1/4406
1 c.765+13G>A r.(=) p.(=) g.17349090C>T Copied from the Exome Variant Server SDHB_000003 2/13006 2/8600 0/4406
1 c.765+29G>A r.(=) p.(=) g.17349074C>T Copied from the Exome Variant Server SDHB_000002 5/13006 4/8600 1/4406
1 c.766-40C>T r.(=) p.(=) g.17345493G>A Copied from the Exome Variant Server SDHB_000001 84/13004 0/8600 84/4404
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