ClinVar Miner

List of variants in gene CLCN1 reported as likely benign by Invitae

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Total variants: 19
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HGVS dbSNP
NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val) rs202119213
NM_000083.3(CLCN1):c.120G>C (p.Gly40=) rs200344297
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=) rs201919331
NM_000083.3(CLCN1):c.1480T>C (p.Phe494Leu) rs147493705
NM_000083.3(CLCN1):c.1689T>A (p.Val563=) rs371701131
NM_000083.3(CLCN1):c.1842G>C (p.Lys614Asn) rs140205115
NM_000083.3(CLCN1):c.1953G>T (p.Ser651=) rs1375543643
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr) rs149316679
NM_000083.3(CLCN1):c.2364+10G>A rs201855153
NM_000083.3(CLCN1):c.2509-3C>T rs375341574
NM_000083.3(CLCN1):c.2901C>T (p.Ala967=) rs143082508
NM_000083.3(CLCN1):c.2937C>T (p.Asp979=) rs776873546
NM_000083.3(CLCN1):c.314G>A (p.Arg105His) rs756353660
NM_000083.3(CLCN1):c.369T>C (p.Leu123=) rs745674068
NM_000083.3(CLCN1):c.434-5C>T rs1290037207
NM_000083.3(CLCN1):c.633C>T (p.Ala211=) rs138246784
NM_000083.3(CLCN1):c.762C>T (p.Cys254=) rs772027125
NM_000083.3(CLCN1):c.86A>C (p.His29Pro) rs146160029
NM_000083.3(CLCN1):c.900G>A (p.Arg300=) rs149578972

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