ClinVar Miner

List of variants studied for Congenital myotonia, autosomal recessive form by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) rs777685454 0.00006
NM_000083.3(CLCN1):c.1831C>T (p.Arg611Cys) rs146469288 0.00004
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703 0.00003
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met) rs762754992 0.00002
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn) rs80356697 0.00002
NM_000083.3(CLCN1):c.2434C>T (p.Gln812Ter) rs772150974 0.00002
NM_000083.3(CLCN1):c.47G>A (p.Trp16Ter) rs769092535 0.00001
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met) rs80356691 0.00001
NM_000083.3(CLCN1):c.1613A>C (p.His538Pro)
NM_000083.3(CLCN1):c.180G>A (p.Gln60=)
NM_000083.3(CLCN1):c.983C>T (p.Thr328Ile) rs780421370

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