ClinVar Miner

List of variants in gene CLCN1 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_000083.3(CLCN1):c.*29C>A rs202172391
NM_000083.3(CLCN1):c.1251+11G>T rs780748786
NM_000083.3(CLCN1):c.1396A>C (p.Met466Leu) rs776848644
NM_000083.3(CLCN1):c.156C>T (p.Pro52=) rs886062032
NM_000083.3(CLCN1):c.1781G>T (p.Gly594Val) rs746346988
NM_000083.3(CLCN1):c.1796+2_1796+6del rs1563084796
NM_000083.3(CLCN1):c.1867G>A (p.Gly623Arg) rs886062035
NM_000083.3(CLCN1):c.215G>C (p.Arg72Thr) rs886062033
NM_000083.3(CLCN1):c.2192dup (p.His732fs) rs1563087702
NM_000083.3(CLCN1):c.2550C>T (p.Tyr850=) rs775384507
NM_000083.3(CLCN1):c.2713G>A (p.Glu905Lys) rs886062036
NM_000083.3(CLCN1):c.2786C>T (p.Thr929Ile) rs777708543
NM_000083.3(CLCN1):c.314G>A (p.Arg105His) rs756353660
NM_000083.3(CLCN1):c.451G>A (p.Ala151Thr) rs140726900
NM_000083.3(CLCN1):c.57C>A (p.Asp19Glu) rs886062031
NM_000083.3(CLCN1):c.756G>A (p.Val252=) rs886062034

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