ClinVar Miner

List of variants in gene CLCN1 reported as likely pathogenic for Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form

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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.2645C>T (p.Pro882Leu) rs745329674 0.00004
NM_000083.3(CLCN1):c.264G>A (p.Val88=) rs759188441 0.00004
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701 0.00004
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703 0.00003
NM_000083.3(CLCN1):c.1444G>C (p.Gly482Arg) rs746125212 0.00003
NM_000083.3(CLCN1):c.1243G>C (p.Ala415Pro) rs1023099235 0.00001
NM_000083.3(CLCN1):c.1264G>A (p.Glu422Lys) rs889073641 0.00001
NM_000083.3(CLCN1):c.1280T>C (p.Leu427Ser) rs375292685 0.00001
NM_000083.3(CLCN1):c.1930+1G>A rs771002652 0.00001
NM_000083.3(CLCN1):c.2172G>T (p.Glu724Asp) rs753308829 0.00001
NM_000083.3(CLCN1):c.2403+5G>A rs1474520642 0.00001
NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys) rs80356686 0.00001
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) rs746691295 0.00001
NM_000083.3(CLCN1):c.812G>A (p.Cys271Tyr) rs1475869303 0.00001
NM_000083.3(CLCN1):c.1252-1G>T
NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu) rs780834658
NM_000083.3(CLCN1):c.1297T>C (p.Trp433Arg) rs1027814542
NM_000083.3(CLCN1):c.1298G>C (p.Trp433Ser) rs1486868849
NM_000083.3(CLCN1):c.1298G>T (p.Trp433Leu)
NM_000083.3(CLCN1):c.1454T>A (p.Met485Lys)
NM_000083.3(CLCN1):c.1471+2del rs2116864878
NM_000083.3(CLCN1):c.1484G>A (p.Gly495Glu)
NM_000083.3(CLCN1):c.1582+1G>A
NM_000083.3(CLCN1):c.1606G>C (p.Val536Leu)
NM_000083.3(CLCN1):c.1607T>C (p.Val536Ala)
NM_000083.3(CLCN1):c.1649C>G (p.Thr550Arg) rs762754992
NM_000083.3(CLCN1):c.1666A>T (p.Ile556Phe)
NM_000083.3(CLCN1):c.1672C>T (p.Pro558Ser) rs1586510615
NM_000083.3(CLCN1):c.1699A>C (p.Asn567His)
NM_000083.3(CLCN1):c.1796+1G>A
NM_000083.3(CLCN1):c.181-2A>G rs1802376231
NM_000083.3(CLCN1):c.1879A>C (p.Thr627Pro)
NM_000083.3(CLCN1):c.2171A>C (p.Glu724Ala) rs1803225186
NM_000083.3(CLCN1):c.2284+1G>A
NM_000083.3(CLCN1):c.2365-1G>A
NM_000083.3(CLCN1):c.2403+1G>A
NM_000083.3(CLCN1):c.2508+1G>A
NM_000083.3(CLCN1):c.2509-2A>C
NM_000083.3(CLCN1):c.2528T>C (p.Leu843Pro) rs1563090141
NM_000083.3(CLCN1):c.350A>G (p.Asp117Gly)
NM_000083.3(CLCN1):c.382A>G (p.Met128Val) rs80356699
NM_000083.3(CLCN1):c.433+1G>A
NM_000083.3(CLCN1):c.434-1G>A
NM_000083.3(CLCN1):c.480G>C (p.Gln160His) rs771532474
NM_000083.3(CLCN1):c.490T>C (p.Trp164Arg)
NM_000083.3(CLCN1):c.569G>T (p.Gly190Val) rs746401512
NM_000083.3(CLCN1):c.571A>T (p.Ile191Phe) rs2116838394
NM_000083.3(CLCN1):c.578A>C (p.Glu193Ala)
NM_000083.3(CLCN1):c.644A>G (p.Lys215Arg) rs2116838620
NM_000083.3(CLCN1):c.691A>G (p.Lys231Glu) rs1586486170
NM_000083.3(CLCN1):c.693A>C (p.Lys231Asn)
NM_000083.3(CLCN1):c.697-1G>C rs773025750
NM_000083.3(CLCN1):c.706G>A (p.Val236Ile)
NM_000083.3(CLCN1):c.706G>C (p.Val236Leu) rs776173406
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg) rs746691295
NM_000083.3(CLCN1):c.809G>T (p.Gly270Val)
NM_000083.3(CLCN1):c.811T>C (p.Cys271Arg) rs1554435334
NM_000083.3(CLCN1):c.829T>G (p.Cys277Gly) rs757109632
NM_000083.3(CLCN1):c.847C>T (p.Leu283Phe) rs80356688
NM_000083.3(CLCN1):c.853G>A (p.Gly285Arg)
NM_000083.3(CLCN1):c.859C>A (p.Leu287Ile)
NM_000083.3(CLCN1):c.893C>T (p.Ala298Val)
NM_000083.3(CLCN1):c.905A>G (p.Tyr302Cys) rs1563078716
NM_000083.3(CLCN1):c.913G>A (p.Gly305Arg) rs1802702027
NM_000083.3(CLCN1):c.921_932del (p.Ala308_Phe311del) rs766116662
NM_000083.3(CLCN1):c.950G>C (p.Arg317Pro) rs80356702
NM_000083.3(CLCN1):c.980-2A>G
NM_000083.3(CLCN1):c.991G>A (p.Ala331Thr)
NM_000083.3(CLCN1):c.991G>T (p.Ala331Ser)

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