ClinVar Miner

List of variants in gene ATRX reported as pathogenic for not provided

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.6(ATRX):c.134-2A>G rs398123420
NM_000489.6(ATRX):c.1727C>A (p.Ser576Ter) rs2071372283
NM_000489.6(ATRX):c.1738del (p.Ala580fs) rs886039493
NM_000489.6(ATRX):c.1753G>T (p.Glu585Ter) rs886044898
NM_000489.6(ATRX):c.189+1G>A rs398123422
NM_000489.6(ATRX):c.3943+3G>T rs781888847
NM_000489.6(ATRX):c.3944-2A>G rs2070047352
NM_000489.6(ATRX):c.463_474delinsT (p.Thr154_Glu155insTer) rs398123424
NM_000489.6(ATRX):c.517G>A (p.Ala173Thr) rs1064795090
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_000489.6(ATRX):c.5957-1G>A rs886041903
NM_000489.6(ATRX):c.599G>T (p.Cys200Phe) rs886041700
NM_000489.6(ATRX):c.6253C>T (p.Arg2085Cys) rs2148019913
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His) rs1057517948
NM_000489.6(ATRX):c.6392G>A (p.Arg2131Gln) rs122445101
NM_000489.6(ATRX):c.6532C>T (p.Arg2178Trp) rs1057517707
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter) rs122445099
NM_000489.6(ATRX):c.7201-3_7201-2del rs2062763812
NM_000489.6(ATRX):c.7366_7367del (p.Met2456fs) rs797044723
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.6(ATRX):c.7394del (p.Gly2465fs) rs398123428

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