Unique variants in gene CLCN5

Information The variants shown are described using the NM_000084.2 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
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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.-26G>A r.(=) p.(=) g.49834555G>A Copied from the Exome Variant Server CLCN5_000001 1/10563 1/6728 0/3835
1 c.83G>A r.(?) p.(Arg28Gln) g.49834663G>A Copied from the Exome Variant Server CLCN5_000002 1/10563 0/6728 1/3835
1 c.105+19C>T r.(=) p.(=) g.49834704C>T Copied from the Exome Variant Server CLCN5_000003 1/10563 1/6728 0/3835
1 c.105+42A>C r.(=) p.(=) g.49834727A>C Copied from the Exome Variant Server CLCN5_000004 5/10563 5/6728 0/3835
1 c.106-17T>G r.(=) p.(=) g.49837127T>G Copied from the Exome Variant Server CLCN5_000005 52/10563 50/6728 2/3835
1 c.121A>C r.(?) p.(Lys41Gln) g.49837159A>C Copied from the Exome Variant Server CLCN5_000006 1/10563 1/6728 0/3835
1 c.206-48C>G r.(=) p.(=) g.49840402C>G Copied from the Exome Variant Server CLCN5_000007 1/10563 0/6728 1/3835
1 c.206-47C>T r.(=) p.(=) g.49840403C>T Copied from the Exome Variant Server CLCN5_000008 1/10563 1/6728 0/3835
1 c.206-46G>A r.(=) p.(=) g.49840404G>A Copied from the Exome Variant Server CLCN5_000009 1/10563 0/6728 1/3835
1 c.206-18T>C r.(=) p.(=) g.49840432T>C Copied from the Exome Variant Server CLCN5_000010 1/10563 0/6728 1/3835
1 c.206-6A>T r.(=) p.(=) g.49840444A>T Copied from the Exome Variant Server CLCN5_000011 209/10563 3/6728 206/3835
1 c.210G>A r.(=) p.(=) g.49840454G>A Copied from the Exome Variant Server CLCN5_000012 3/10563 0/6728 3/3835
1 c.276G>C r.(=) p.(=) g.49840520G>C Copied from the Exome Variant Server CLCN5_000013 1/10563 0/6728 1/3835
1 c.304T>C r.(?) p.(Cys102Arg) g.49840548T>C Copied from the Exome Variant Server CLCN5_000014 1/10563 0/6728 1/3835
1 c.344A>G r.(?) p.(Lys115Arg) g.49840588A>G Copied from the Exome Variant Server CLCN5_000016 16/10563 16/6728 0/3835
1 c.393+31G>T r.(=) p.(=) g.49840668G>T Copied from the Exome Variant Server CLCN5_000018 3/10563 3/6728 0/3835
1 c.407A>G r.(?) p.(Tyr136Cys) g.49845264A>G Copied from the Exome Variant Server CLCN5_000020 1/10563 1/6728 0/3835
1 c.424A>T r.(?) p.(Met142Leu) g.49845281A>T Copied from the Exome Variant Server CLCN5_000022 1/10563 1/6728 0/3835
1 c.426G>A r.(?) p.(Met142Ile) g.49845283G>A Copied from the Exome Variant Server CLCN5_000024 101/10563 1/6728 100/3835
1 c.463G>A r.(?) p.(Val155Ile) g.49845320G>A Copied from the Exome Variant Server CLCN5_000026 1/10563 0/6728 1/3835
1 c.486G>A r.(=) p.(=) g.49845343G>A Copied from the Exome Variant Server CLCN5_000028 2/10563 1/6728 1/3835
1 c.516+28G>C r.(=) p.(=) g.49845401G>C Copied from the Exome Variant Server CLCN5_000030 8/10563 5/6728 3/3835
1 c.516+42T>C r.(=) p.(=) g.49845415T>C Copied from the Exome Variant Server CLCN5_000032 2/10563 2/6728 0/3835
1 c.517-5T>C r.spl? p.? g.49846293T>C Copied from the Exome Variant Server CLCN5_000034 1/10563 1/6728 0/3835
1 c.609G>A r.(=) p.(=) g.49846390G>A Copied from the Exome Variant Server CLCN5_000036 144/10563 3/6728 141/3835
1 c.716G>A r.(?) p.(Arg239His) g.49846497G>A Copied from the Exome Variant Server CLCN5_000015 2/10563 2/6728 0/3835
1 c.804+25T>C r.(=) p.(=) g.49850742T>C Copied from the Exome Variant Server CLCN5_000017 1/10563 1/6728 0/3835
1 c.889C>G r.(?) p.(Pro297Ala) g.49851069C>G Copied from the Exome Variant Server CLCN5_000019 1/10563 0/6728 1/3835
1 c.931C>T r.(?) p.(His311Tyr) g.49851111C>T Copied from the Exome Variant Server CLCN5_000021 1/10563 0/6728 1/3835
1 c.993G>C r.(=) p.(=) g.49851173G>C Copied from the Exome Variant Server CLCN5_000023 573/10563 4/6728 569/3835
1 c.1034G>A r.(?) p.(Arg345Gln) g.49851214G>A Copied from the Exome Variant Server CLCN5_000025 4/10563 4/6728 0/3835
1 c.1047C>T r.(=) p.(=) g.49851227C>T Copied from the Exome Variant Server CLCN5_000027 35/10563 0/6728 35/3835
1 c.1052A>G r.(?) p.(Gln351Arg) g.49851232A>G Copied from the Exome Variant Server CLCN5_000029 1/10563 1/6728 0/3835
1 c.1086C>T r.(=) p.(=) g.49851266C>T Copied from the Exome Variant Server CLCN5_000031 2/10563 0/6728 2/3835
1 c.1087G>A r.(?) p.(Val363Met) g.49851267G>A Copied from the Exome Variant Server CLCN5_000033 2/10563 0/6728 2/3835
1 c.1263C>T r.(=) p.(=) g.49851443C>T Copied from the Exome Variant Server CLCN5_000035 21/10562 1/6728 20/3834
1 c.1264G>A r.(?) p.(Val422Met) g.49851444G>A Copied from the Exome Variant Server CLCN5_000037 1/10562 0/6728 1/3834
1 c.1348-14G>C r.(=) p.(=) g.49853341G>C Copied from the Exome Variant Server CLCN5_000038 2046/10563 14/6728 2032/3835
1 c.1425G>T r.(?) p.(Gln475His) g.49853432G>T Copied from the Exome Variant Server CLCN5_000039 5/10563 0/6728 5/3835
1 c.1452C>T r.(=) p.(=) g.49853459C>T Copied from the Exome Variant Server CLCN5_000040 2/10563 2/6728 0/3835
1 c.1453G>A r.(?) p.(Val485Ile) g.49853460G>A Copied from the Exome Variant Server CLCN5_000041 8/10563 0/6728 8/3835
1 c.1534+44A>G r.(=) p.(=) g.49853585A>G Copied from the Exome Variant Server CLCN5_000042 1/10563 1/6728 0/3835
1 c.1535-8C>A r.(=) p.(=) g.49854765C>A Copied from the Exome Variant Server CLCN5_000043 2/10563 0/6728 2/3835
1 c.1605C>T r.(=) p.(=) g.49854843C>T Copied from the Exome Variant Server CLCN5_000044 1/10563 0/6728 1/3835
1 c.1642G>A r.(?) p.(Val548Met) g.49854880G>A Copied from the Exome Variant Server CLCN5_000045 1/10563 1/6728 0/3835
1 c.1698A>G r.(=) p.(=) g.49854936A>G Copied from the Exome Variant Server CLCN5_000046 1/10563 1/6728 0/3835
1 c.1704C>T r.(=) p.(=) g.49854942C>T Copied from the Exome Variant Server CLCN5_000047 797/10563 5/6728 792/3835
1 c.1766G>A r.(?) p.(Arg589Gln) g.49855004G>A Copied from the Exome Variant Server CLCN5_000048 1/10563 1/6728 0/3835
1 c.1970C>G r.(?) p.(Thr657Ser) g.49855363C>G Copied from the Exome Variant Server CLCN5_000049 15/10563 0/6728 15/3835
1 c.1991A>C r.(?) p.(Glu664Ala) g.49855384A>C Copied from the Exome Variant Server CLCN5_000050 2/10563 2/6728 0/3835
1 c.2011C>T r.(?) p.(Pro671Ser) g.49855404C>T Copied from the Exome Variant Server CLCN5_000051 1/10563 1/6728 0/3835
1 c.2095G>A r.(?) p.(Val699Ile) g.49855488G>A Copied from the Exome Variant Server CLCN5_000052 1/10563 1/6728 0/3835
1 c.2151-42A>G r.(=) p.(=) g.49856744A>G Copied from the Exome Variant Server CLCN5_000053 42/10563 0/6728 42/3835
1 c.2151-18A>G r.(=) p.(=) g.49856768A>G Copied from the Exome Variant Server CLCN5_000054 5/10563 5/6728 0/3835
1 c.2153G>A r.(?) p.(Arg718Gln) g.49856788G>A Copied from the Exome Variant Server CLCN5_000055 1/10563 1/6728 0/3835
1 c.2208G>A r.(=) p.(=) g.49856843G>A Copied from the Exome Variant Server CLCN5_000056 1/10563 0/6728 1/3835
1 c.*25C>T r.(=) p.(=) g.49856901C>T Copied from the Exome Variant Server CLCN5_000057 1/10563 1/6728 0/3835
1 c.*44C>A r.(=) p.(=) g.49856920C>A Copied from the Exome Variant Server CLCN5_000058 1/10563 1/6728 0/3835
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