List of variants in gene CLCN1 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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

Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)	rs55960271	0.00561
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val)	rs146457619	0.00039
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys)	rs121912799	0.00028
NM_000083.3(CLCN1):c.180+3A>T	rs202217420	0.00019
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu)	rs150885084	0.00003
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met)	rs762754992	0.00002
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His)	rs780834658	0.00001
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg)	rs746125212	0.00001
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg)	rs80356696	0.00001
NM_000083.3(CLCN1):c.1930+1G>A	rs771002652	0.00001
NM_000083.3(CLCN1):c.2172+1G>T	rs1273524525	0.00001
NM_000083.3(CLCN1):c.817G>A (p.Val273Met)	rs921162119	0.00001
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr)	rs80356692	0.00001
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)	rs768119034
NM_000083.3(CLCN1):c.1568G>A (p.Gly523Asp)	rs1460714146
NM_000083.3(CLCN1):c.1649C>G (p.Thr550Arg)	rs762754992
NM_000083.3(CLCN1):c.1784G>A (p.Trp595Ter)	rs1586510870
NM_000083.3(CLCN1):c.1919T>G (p.Val640Gly)	rs1803111906
NM_000083.3(CLCN1):c.2172+1G>A	rs1273524525
NM_000083.3(CLCN1):c.2789del (p.Pro930fs)	rs749552056
NM_000083.3(CLCN1):c.562+1G>C	rs2116837885
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.771T>A (p.Tyr257Ter)	rs1802495428

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