ClinVar Miner

List of variants in gene CLCN1 reported as likely pathogenic by Athena Diagnostics Inc

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Gene type:
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Total variants: 16
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HGVS dbSNP
NM_000083.2(CLCN1):c.698delG (p.Gly233Alafs) rs1423567292
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu) rs1282349760
NM_000083.3(CLCN1):c.1167-10T>C rs543120965
NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys) rs756981034
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658
NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu)
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu)
NM_000083.3(CLCN1):c.1401+1G>T rs769861892
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) rs777685454
NM_000083.3(CLCN1):c.1612_1613CA[2] (p.Thr539fs) rs1554438432
NM_000083.3(CLCN1):c.563G>C (p.Gly188Ala) rs1554434857
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.592C>G (p.Leu198Val) rs80356685
NM_000083.3(CLCN1):c.593T>C (p.Leu198Pro) rs1347382107
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484

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