List of variants in gene CLCN1 reported as likely pathogenic 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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys)	rs121912799	0.00028
NM_000083.3(CLCN1):c.2551G>A (p.Val851Met)	rs749205522	0.00004
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr)	rs764100025	0.00002
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg)	rs80356696	0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)	rs80356702	0.00001
NM_000083.3(CLCN1):c.1438C>T (p.Pro480Ser)	rs80356695
NM_000083.3(CLCN1):c.1450T>C (p.Phe484Leu)	rs1312002847
NM_000083.3(CLCN1):c.1568G>T (p.Gly523Val)	rs1460714146
NM_000083.3(CLCN1):c.1615A>G (p.Thr539Ala)	rs1474851853
NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr)	rs1269268607
NM_000083.3(CLCN1):c.1886T>C (p.Leu629Pro)	rs1009716258
NM_000083.3(CLCN1):c.2550C>A (p.Tyr850Ter)
NM_000083.3(CLCN1):c.395G>C (p.Ser132Thr)	rs775224495
NM_000083.3(CLCN1):c.644A>G (p.Lys215Arg)	rs2116838620
NM_000083.3(CLCN1):c.791C>T (p.Ser264Phe)	rs2116842824
NM_000083.3(CLCN1):c.869T>C (p.Ile290Thr)
NM_000083.3(CLCN1):c.983C>A (p.Thr328Asn)	rs780421370

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