ClinVar Miner

List of variants in gene ATRX reported as likely pathogenic

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Total variants: 23
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HGVS dbSNP
NM_000489.5(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.5(ATRX):c.1558G>T (p.Val520Phe) rs1287383551
NM_000489.5(ATRX):c.1676C>T (p.Ser559Leu) rs1060499760
NM_000489.5(ATRX):c.2102G>A (p.Arg701His) rs797044563
NM_000489.5(ATRX):c.371-2A>G rs1557148369
NM_000489.5(ATRX):c.4509A>T (p.Arg1503Ser) rs1057517997
NM_000489.5(ATRX):c.5026G>T (p.Gly1676Cys) rs1557106484
NM_000489.5(ATRX):c.5048A>G (p.Tyr1683Cys)
NM_000489.5(ATRX):c.5072A>C (p.Gln1691Pro) rs1569533321
NM_000489.5(ATRX):c.533T>A (p.Val178Asp) rs1060499759
NM_000489.5(ATRX):c.568C>G (p.Pro190Ala) rs122445103
NM_000489.5(ATRX):c.569C>T (p.Pro190Leu) rs1057518708
NM_000489.5(ATRX):c.6149T>C (p.Ile2050Thr) rs122445110
NM_000489.5(ATRX):c.6254G>A (p.Arg2085His) rs1057517948
NM_000489.5(ATRX):c.6254G>T (p.Arg2085Leu) rs1057517948
NM_000489.5(ATRX):c.6532C>T (p.Arg2178Trp) rs1057517707
NM_000489.5(ATRX):c.668G>A (p.Cys223Tyr) rs1557142844
NM_000489.5(ATRX):c.7147G>C (p.Asp2383His) rs1057518225
NM_000489.5(ATRX):c.7192C>T (p.Gln2398Ter) rs1569515457
NM_000489.5(ATRX):c.7219C>T (p.Arg2407Ter) rs1557034957
NM_000489.5(ATRX):c.729C>G (p.Cys243Trp) rs1057524153
NM_000489.5(ATRX):c.7364_7365AT[1] (p.Met2456fs) rs797044723
NM_000489.5(ATRX):c.740A>G (p.Asn247Ser) rs797044865

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