ClinVar Miner

List of variants in gene CLCN1 studied for Congenital myotonia, autosomal recessive form

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP
CLCN1, 1-BP INS, 831G
CLCN1, 14-BP DEL
CLCN1, ARG300TER
CLCN1, TRP433ARG
NG_009815.1:g.19647-?_28496+?dup
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799
NM_000083.3(CLCN1):c.1278_1281TTTG[1] (p.Phe428fs)
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp) rs185031797
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg) rs746125212
NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser) rs121912801
NM_000083.3(CLCN1):c.1495G>A (p.Gly499Arg) rs121912807
NM_000083.3(CLCN1):c.1903A>G (p.Lys635Glu) rs772430525
NM_000083.3(CLCN1):c.1918del (p.Val640fs) rs1554438574
NM_000083.3(CLCN1):c.220C>T (p.Gln74Ter) rs1554434400
NM_000083.3(CLCN1):c.2419C>T (p.Gln807Ter) rs1554439817
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271
NM_000083.3(CLCN1):c.2795C>T (p.Pro932Leu) rs80356706
NM_000083.3(CLCN1):c.469del (p.Leu157fs) rs1554434794
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg) rs746691295
NM_000083.3(CLCN1):c.774+1G>A rs776073429
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) rs121912805
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702
NM_000083.3(CLCN1):c.979+1G>A rs1563078827

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.