ClinVar Miner

List of variants in gene CLCN1 studied for Inborn genetic diseases

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.2258A>C (p.Gln753Pro) rs112282456 0.00010
NM_000083.3(CLCN1):c.1123G>A (p.Gly375Ser) rs140536210 0.00007
NM_000083.3(CLCN1):c.2693G>A (p.Gly898Glu) rs149188892 0.00005
NM_000083.3(CLCN1):c.664G>A (p.Gly222Ser) rs747078264 0.00005
NM_000083.3(CLCN1):c.2833G>A (p.Gly945Ser) rs774199742 0.00004
NM_000083.3(CLCN1):c.452C>T (p.Ala151Val) rs145280046 0.00004
NM_000083.3(CLCN1):c.2341C>T (p.Pro781Ser) rs117661165 0.00002
NM_000083.3(CLCN1):c.517C>T (p.Leu173Phe) rs1554434802 0.00002
NM_000083.3(CLCN1):c.1061T>G (p.Ile354Ser) rs1682810737 0.00001
NM_000083.3(CLCN1):c.1241T>C (p.Met414Thr) rs368276618 0.00001
NM_000083.3(CLCN1):c.1109G>A (p.Arg370His)
NM_000083.3(CLCN1):c.1120C>A (p.Leu374Ile)
NM_000083.3(CLCN1):c.1129C>G (p.Arg377Gly)
NM_000083.3(CLCN1):c.122del (p.Gly41fs) rs1802291231
NM_000083.3(CLCN1):c.128A>C (p.Gln43Pro) rs868831424
NM_000083.3(CLCN1):c.1307A>T (p.His436Leu)
NM_000083.3(CLCN1):c.148G>A (p.Ala50Thr)
NM_000083.3(CLCN1):c.1775A>G (p.Asp592Gly)
NM_000083.3(CLCN1):c.2129T>C (p.Phe710Ser)
NM_000083.3(CLCN1):c.2662C>T (p.Arg888Trp)
NM_000083.3(CLCN1):c.2798C>A (p.Ser933Tyr) rs1448219970
NM_000083.3(CLCN1):c.326T>C (p.Val109Ala)
NM_000083.3(CLCN1):c.364G>A (p.Val122Met)
NM_000083.3(CLCN1):c.419C>A (p.Ala140Asp) rs1435631505
NM_000083.3(CLCN1):c.53G>T (p.Ser18Ile)
NM_000083.3(CLCN1):c.553C>A (p.Gln185Lys)
NM_000083.3(CLCN1):c.838G>T (p.Gly280Trp)
NM_000083.3(CLCN1):c.860T>G (p.Leu287Arg)
NM_000083.3(CLCN1):c.931T>C (p.Phe311Leu)

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