ClinVar Miner

List of variants in gene ATRX reported as likely pathogenic

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Gene type:
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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.2102G>A (p.Arg701His) rs797044563 0.00001
NM_000489.6(ATRX):c.4862C>T (p.Thr1621Met) rs122445106 0.00001
NC_000023.10:g.(76940499_76944310)_(76954118_76972607)del
NC_000023.10:g.(?_76937002)_(76972730_?)dup
NC_000023.10:g.(?_76953051)_(76954137_?)dup
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.6(ATRX):c.1330C>T (p.Arg444Ter)
NM_000489.6(ATRX):c.1396A>T (p.Arg466Ter)
NM_000489.6(ATRX):c.1558G>T (p.Val520Phe) rs1287383551
NM_000489.6(ATRX):c.1676C>T (p.Ser559Leu) rs1060499760
NM_000489.6(ATRX):c.2422C>T (p.Arg808Ter) rs891068548
NM_000489.6(ATRX):c.371-2A>G rs1557148369
NM_000489.6(ATRX):c.4506_4507insGTAGAG (p.Glu1502_Arg1503insValGlu) rs2148436383
NM_000489.6(ATRX):c.4509A>T (p.Arg1503Ser) rs1057517997
NM_000489.6(ATRX):c.4620TGAAGA[1] (p.1540DE[1]) rs797045406
NM_000489.6(ATRX):c.4825C>T (p.His1609Tyr)
NM_000489.6(ATRX):c.4826A>G (p.His1609Arg) rs122445093
NM_000489.6(ATRX):c.4845C>A (p.Asp1615Glu)
NM_000489.6(ATRX):c.485-1G>A rs2148657465
NM_000489.6(ATRX):c.485-2A>T
NM_000489.6(ATRX):c.4957-3A>G
NM_000489.6(ATRX):c.4957-4A>G rs1602979818
NM_000489.6(ATRX):c.4981C>T (p.Arg1661Cys)
NM_000489.6(ATRX):c.5026G>T (p.Gly1676Cys) rs1557106484
NM_000489.6(ATRX):c.5048A>G (p.Tyr1683Cys) rs1602979414
NM_000489.6(ATRX):c.5072A>C (p.Gln1691Pro) rs1569533321
NM_000489.6(ATRX):c.5080A>G (p.Asn1694Asp) rs2068193669
NM_000489.6(ATRX):c.5215C>T (p.Arg1739Ter)
NM_000489.6(ATRX):c.5222G>A (p.Arg1741Lys) rs1448764008
NM_000489.6(ATRX):c.5271G>C (p.Glu1757Asp) rs141240580
NM_000489.6(ATRX):c.5281A>G (p.Met1761Val) rs2148260943
NM_000489.6(ATRX):c.5315C>A (p.Ser1772Tyr)
NM_000489.6(ATRX):c.533T>A (p.Val178Asp) rs1060499759
NM_000489.6(ATRX):c.5342T>C (p.Ile1781Thr) rs2148259855
NM_000489.6(ATRX):c.5368G>A (p.Ala1790Thr)
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_000489.6(ATRX):c.5405A>C (p.Lys1802Thr) rs1602876401
NM_000489.6(ATRX):c.5449-7A>G rs2067371776
NM_000489.6(ATRX):c.5540A>G (p.Tyr1847Cys) rs1057521987
NM_000489.6(ATRX):c.5540A>T (p.Tyr1847Phe) rs1057521987
NM_000489.6(ATRX):c.565C>T (p.His189Tyr) rs2148656473
NM_000489.6(ATRX):c.568C>G (p.Pro190Ala) rs122445103
NM_000489.6(ATRX):c.569C>T (p.Pro190Leu) rs1057518708
NM_000489.6(ATRX):c.6104A>G (p.Asp2035Gly) rs122445096
NM_000489.6(ATRX):c.6127T>C (p.Ser2043Pro)
NM_000489.6(ATRX):c.6149T>C (p.Ile2050Thr) rs122445110
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.6254G>T (p.Arg2085Leu) rs1057517948
NM_000489.6(ATRX):c.6406G>A (p.Asp2136Asn) rs2064896365
NM_000489.6(ATRX):c.6532C>T (p.Arg2178Trp) rs1057517707
NM_000489.6(ATRX):c.659G>A (p.Cys220Tyr) rs122445111
NM_000489.6(ATRX):c.668G>A (p.Cys223Tyr) rs1557142844
NM_000489.6(ATRX):c.671C>T (p.Ala224Val)
NM_000489.6(ATRX):c.6743T>C (p.Ile2248Thr) rs2147761759
NM_000489.6(ATRX):c.6793G>A (p.Glu2265Lys)
NM_000489.6(ATRX):c.687G>C (p.Leu229Phe)
NM_000489.6(ATRX):c.7147G>C (p.Asp2383His) rs1057518225
NM_000489.6(ATRX):c.7192C>T (p.Gln2398Ter) rs1569515457
NM_000489.6(ATRX):c.7219C>T (p.Arg2407Ter) rs1557034957
NM_000489.6(ATRX):c.729C>G (p.Cys243Trp) rs1057524153
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.737G>T (p.Arg246Leu) rs1603226766
NM_000489.6(ATRX):c.740A>G (p.Asn247Ser) rs797044865
NM_000489.6(ATRX):c.758T>C (p.Leu253Ser)
NM_000489.6(ATRX):c.77C>A (p.Ser26Ter) rs2073481839
NM_000489.6(ATRX):c.839G>A (p.Cys280Tyr) rs2071439399

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