ClinVar Miner

List of variants in gene CLCN1 reported as uncertain significance for not specified

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Total variants: 19
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HGVS dbSNP
NM_000083.3(CLCN1):c.1096G>T (p.Val366Leu) rs1554436573
NM_000083.3(CLCN1):c.1167-3C>T rs1308054644
NM_000083.3(CLCN1):c.1388T>G (p.Phe463Cys) rs1064796557
NM_000083.3(CLCN1):c.1405T>C (p.Trp469Arg) rs759207718
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg) rs747895358
NM_000083.3(CLCN1):c.1842G>C (p.Lys614Asn) rs140205115
NM_000083.3(CLCN1):c.2024A>C (p.Gln675Pro) rs768582911
NM_000083.3(CLCN1):c.2062_2063insTTC (p.Gly688delinsValArg) rs770836890
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr) rs149316679
NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser) rs144612641
NM_000083.3(CLCN1):c.2403+4A>C rs372826693
NM_000083.3(CLCN1):c.2461_2463delinsCTC (p.Ile821Leu) rs1554439830
NM_000083.3(CLCN1):c.2464G>C (p.Asp822His) rs143146088
NM_000083.3(CLCN1):c.301G>A (p.Asp101Asn) rs1204927357
NM_000083.3(CLCN1):c.547T>C (p.Ser183Pro) rs1554434814
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) rs746691295
NM_000083.3(CLCN1):c.811T>C (p.Cys271Arg) rs1554435334
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser) rs765181341
NM_000083.3(CLCN1):c.921_932del (p.Ala308_Phe311del) rs766116662

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