List of variants in gene CLCN1 reported as uncertain significance for Congenital myotonia, autosomal dominant form

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter)	rs142539932	0.00066
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp)	rs185031797	0.00015
NM_000083.3(CLCN1):c.2258A>C (p.Gln753Pro)	rs112282456	0.00013
NM_000083.3(CLCN1):c.2551G>A (p.Val851Met)	rs749205522	0.00004
NM_000083.3(CLCN1):c.2578G>A (p.Val860Ile)	rs767209392	0.00004
NM_000083.3(CLCN1):c.1396A>C (p.Met466Leu)	rs776848644	0.00001
NM_000083.3(CLCN1):c.1586C>T (p.Ala529Val)	rs1803087610	0.00001
NM_000083.3(CLCN1):c.547T>C (p.Ser183Pro)	rs1554434814	0.00001
NM_000083.3(CLCN1):c.782A>G (p.Tyr261Cys)	rs200621976	0.00001
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu)	rs202179484	0.00001
NM_000083.3(CLCN1):c.1028T>G (p.Phe343Cys)	rs1291895685
NM_000083.3(CLCN1):c.1568G>T (p.Gly523Val)	rs1460714146
NM_000083.3(CLCN1):c.2203A>G (p.Thr735Ala)	rs539404339
NM_000083.3(CLCN1):c.2253C>A (p.His751Gln)
NM_000083.3(CLCN1):c.2789del (p.Pro930fs)	rs749552056
NM_000083.3(CLCN1):c.399G>C (p.Trp133Cys)	rs2487029790
NM_000083.3(CLCN1):c.462G>C (p.Gln154His)	rs771642243
NM_000083.3(CLCN1):c.562+5G>C	rs2487032778
NM_000083.3(CLCN1):c.563G>A (p.Gly188Asp)	rs1554434857
NM_000083.3(CLCN1):c.565T>C (p.Ser189Pro)
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg)	rs369773321
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg)	rs746691295
NM_000083.3(CLCN1):c.779C>T (p.Pro260Leu)	rs1554435319
NM_000083.3(CLCN1):c.901A>C (p.Asn301His)
NM_000083.3(CLCN1):c.961G>A (p.Val321Met)	rs2116852366
NM_000083.3(CLCN1):c.998T>C (p.Phe333Ser)	rs2116852892

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