ClinVar Miner

List of variants in gene ATRX reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 61
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HGVS dbSNP
GRCh38/hg38 Xq21.1(chrX:77490616-77524711)x1
NM_000489.5(ATRX):c.1033G>A (p.Ala345Thr) rs149249195
NM_000489.5(ATRX):c.1169G>A (p.Arg390His) rs367986587
NM_000489.5(ATRX):c.1236C>A (p.Asp412Glu) rs951634317
NM_000489.5(ATRX):c.1252C>G (p.Arg418Gly) rs1057523785
NM_000489.5(ATRX):c.134-9C>T rs782350220
NM_000489.5(ATRX):c.1438A>G (p.Thr480Ala) rs587780284
NM_000489.5(ATRX):c.1478A>G (p.His493Arg) rs947189709
NM_000489.5(ATRX):c.1608G>T (p.Met536Ile) rs1057518436
NM_000489.5(ATRX):c.1738del (p.Ala580fs) rs886039493
NM_000489.5(ATRX):c.189+7A>G
NM_000489.5(ATRX):c.2066A>G (p.Gln689Arg) rs929951326
NM_000489.5(ATRX):c.2461_2466del (p.Leu821_Glu822del) rs781862926
NM_000489.5(ATRX):c.259A>G (p.Thr87Ala) rs1557150036
NM_000489.5(ATRX):c.2617G>C (p.Glu873Gln) rs967071645
NM_000489.5(ATRX):c.2680A>C (p.Thr894Pro) rs145807475
NM_000489.5(ATRX):c.278A>T (p.Asp93Val) rs1064796774
NM_000489.5(ATRX):c.2875G>T (p.Asp959Tyr) rs1057523431
NM_000489.5(ATRX):c.3224A>G (p.Asp1075Gly) rs1064796745
NM_000489.5(ATRX):c.3495_3500del (p.Asn1165_Lys1166del) rs1557137281
NM_000489.5(ATRX):c.3541G>C (p.Val1181Leu) rs61758732
NM_000489.5(ATRX):c.3655G>A (p.Gly1219Arg) rs1057524797
NM_000489.5(ATRX):c.3670C>G (p.Gln1224Glu) rs1057522687
NM_000489.5(ATRX):c.371-2A>G rs1557148369
NM_000489.5(ATRX):c.4031A>G (p.Lys1344Arg) rs782556767
NM_000489.5(ATRX):c.4070A>G (p.Lys1357Arg) rs1064796812
NM_000489.5(ATRX):c.4312A>G (p.Asn1438Asp) rs971839925
NM_000489.5(ATRX):c.4365_4367GGA[4] (p.Glu1464del) rs398123423
NM_000489.5(ATRX):c.4509A>T (p.Arg1503Ser) rs1057517997
NM_000489.5(ATRX):c.4557+33G>A rs5912716
NM_000489.5(ATRX):c.4810-19A>G rs1557106791
NM_000489.5(ATRX):c.4905G>T (p.Met1635Ile) rs1045875195
NM_000489.5(ATRX):c.5087_5089dup (p.Lys1696dup) rs1557106446
NM_000489.5(ATRX):c.517G>A (p.Ala173Thr) rs1064795090
NM_000489.5(ATRX):c.5212A>G (p.Ile1738Val) rs1057523890
NM_000489.5(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_000489.5(ATRX):c.5540A>T (p.Tyr1847Phe) rs1057521987
NM_000489.5(ATRX):c.5697+13A>C rs782387510
NM_000489.5(ATRX):c.5722G>T (p.Asp1908Tyr) rs1057522290
NM_000489.5(ATRX):c.5787-24GTTT[4] rs782072699
NM_000489.5(ATRX):c.5957-1G>A rs886041903
NM_000489.5(ATRX):c.599G>T (p.Cys200Phe) rs886041700
NM_000489.5(ATRX):c.6097A>G (p.Ile2033Val) rs1057521636
NM_000489.5(ATRX):c.6202C>T (p.Pro2068Ser) rs1557079194
NM_000489.5(ATRX):c.6254G>A (p.Arg2085His) rs1057517948
NM_000489.5(ATRX):c.631C>T (p.Arg211Cys) rs782241890
NM_000489.5(ATRX):c.6464G>A (p.Gly2155Glu) rs1057518599
NM_000489.5(ATRX):c.6532C>T (p.Arg2178Trp) rs1057517707
NM_000489.5(ATRX):c.654A>G (p.Glu218=) rs782378258
NM_000489.5(ATRX):c.668G>A (p.Cys223Tyr) rs1557142844
NM_000489.5(ATRX):c.7072-8T>C rs782602387
NM_000489.5(ATRX):c.7141G>A (p.Glu2381Lys) rs1557041077
NM_000489.5(ATRX):c.7147G>C (p.Asp2383His) rs1057518225
NM_000489.5(ATRX):c.7219C>T (p.Arg2407Ter) rs1557034957
NM_000489.5(ATRX):c.7233C>T (p.Asn2411=) rs1557034927
NM_000489.5(ATRX):c.729C>G (p.Cys243Trp) rs1057524153
NM_000489.5(ATRX):c.7334T>A (p.Ile2445Asn) rs1057520923
NM_000489.5(ATRX):c.7364_7365AT[1] (p.Met2456fs) rs797044723
NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.5(ATRX):c.847G>A (p.Val283Ile) rs1057522580
NM_000489.5(ATRX):c.884_886AGA[2] (p.Lys297del) rs1064795918

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