ClinVar Miner

List of variants in gene CLCN1 reported as likely pathogenic by GeneDx

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Total variants: 11
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HGVS dbSNP
NM_000083.3(CLCN1):c.1097T>C (p.Val366Ala) rs1085307989
NM_000083.3(CLCN1):c.1179T>A (p.Tyr393Ter) rs1554436799
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg) rs746125212
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696
NM_000083.3(CLCN1):c.1663C>T (p.His555Tyr) rs201850090
NM_000083.3(CLCN1):c.2403+5G>A rs1474520642
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) rs755176513
NM_000083.3(CLCN1):c.378dup (p.Leu127fs) rs1320040467
NM_000083.3(CLCN1):c.707T>C (p.Val236Ala) rs1064794643
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687
NM_000083.3(CLCN1):c.907T>G (p.Trp303Gly) rs1554436427

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