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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 118

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.2363A>C (p.Gln788Pro)	rs199610988	0.00007
NM_000083.3(CLCN1):c.1222C>G (p.Pro408Ala)	rs202019723	0.00006
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile)	rs777685454	0.00006
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.1283T>C (p.Phe428Ser)	rs774843953	0.00003
NM_000083.3(CLCN1):c.1444G>C (p.Gly482Arg)	rs746125212	0.00003
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser)	rs765181341	0.00003
NM_000083.3(CLCN1):c.1642G>A (p.Glu548Lys)	rs546411827	0.00002
NM_000083.3(CLCN1):c.2434C>T (p.Gln812Ter)	rs772150974	0.00002
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg)	rs767000881	0.00001
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu)	rs1282349760	0.00001
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.1401+1G>T	rs769861892	0.00001
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg)	rs746125212	0.00001
NM_000083.3(CLCN1):c.1930+1G>A	rs771002652	0.00001
NM_000083.3(CLCN1):c.1951T>C (p.Ser651Pro)	rs754350357	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.409T>G (p.Tyr137Asp)	rs748639603	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.774G>A (p.Glu258=)	rs770605959	0.00001
NM_000083.3(CLCN1):c.812G>A (p.Cys271Tyr)	rs1475869303	0.00001
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys)	rs121912805	0.00001
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val)	rs1478129213	0.00001
NM_000083.3(CLCN1):c.1010T>G (p.Phe337Cys)	rs1802715644
NM_000083.3(CLCN1):c.122del (p.Gly41fs)	rs1802291231
NM_000083.3(CLCN1):c.1247_1251+8del
NM_000083.3(CLCN1):c.1252-1G>T
NM_000083.3(CLCN1):c.1255A>T (p.Met419Leu)
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.1582+5G>A
NM_000083.3(CLCN1):c.1592del (p.Ala531fs)
NM_000083.3(CLCN1):c.1606G>C (p.Val536Leu)
NM_000083.3(CLCN1):c.1607T>C (p.Val536Ala)
NM_000083.3(CLCN1):c.160_176del (p.His54fs)
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.180+1G>A
NM_000083.3(CLCN1):c.180+2_180+8del
NM_000083.3(CLCN1):c.181-2A>G	rs1802376231
NM_000083.3(CLCN1):c.1879A>C (p.Thr627Pro)
NM_000083.3(CLCN1):c.1931-1G>C	rs2116383424
NM_000083.3(CLCN1):c.2062G>T (p.Gly688Trp)	rs1563087092
NM_000083.3(CLCN1):c.2171A>C (p.Glu724Ala)	rs1803225186
NM_000083.3(CLCN1):c.2284+1G>A
NM_000083.3(CLCN1):c.2364+2T>C
NM_000083.3(CLCN1):c.2365-1G>A
NM_000083.3(CLCN1):c.2401G>T (p.Glu801Ter)	rs1131691551
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.2576G>A (p.Gly859Asp)
NM_000083.3(CLCN1):c.2789del (p.Pro930fs)	rs749552056
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs)	rs755176513
NM_000083.3(CLCN1):c.297T>A (p.Cys99Ter)
NM_000083.3(CLCN1):c.302-1G>A	rs529377088
NM_000083.3(CLCN1):c.302-2A>C
NM_000083.3(CLCN1):c.316del (p.Leu106fs)
NM_000083.3(CLCN1):c.32del (p.Gly11fs)
NM_000083.3(CLCN1):c.346del (p.Glu116fs)
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.434-2_434dup	rs753470655
NM_000083.3(CLCN1):c.480G>C (p.Gln160His)	rs771532474
NM_000083.3(CLCN1):c.490T>C (p.Trp164Arg)
NM_000083.3(CLCN1):c.559del (p.Val187fs)
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg)	rs369773321
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)	rs797045032
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.702del (p.Phe235fs)
NM_000083.3(CLCN1):c.706G>A (p.Val236Ile)
NM_000083.3(CLCN1):c.706G>C (p.Val236Leu)	rs776173406
NM_000083.3(CLCN1):c.762C>G (p.Cys254Trp)	rs772027125
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg)	rs746691295
NM_000083.3(CLCN1):c.782A>G (p.Tyr261Cys)
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.902dup (p.Asn301fs)
NM_000083.3(CLCN1):c.905A>G (p.Tyr302Cys)	rs1563078716
NM_000083.3(CLCN1):c.909dup (p.Arg304fs)
NM_000083.3(CLCN1):c.913G>A (p.Gly305Arg)	rs1802702027
NM_000083.3(CLCN1):c.91_106del (p.Thr31fs)
NM_000083.3(CLCN1):c.921_932del (p.Ala308_Phe311del)	rs766116662
NM_000083.3(CLCN1):c.942_960del (p.Phe314fs)
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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.