ClinVar Miner

List of variants in gene ATRX studied for not provided

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Gene type:
ClinVar version:
Total variants: 108
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HGVS dbSNP
NM_000489.5(ATRX):c.1033G>A (p.Ala345Thr) rs149249195
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.1273A>C (p.Lys425Gln) rs782508808
NM_000489.5(ATRX):c.134-2A>G rs398123420
NM_000489.5(ATRX):c.134A>T (p.Asp45Val) rs1557151500
NM_000489.5(ATRX):c.1438A>G (p.Thr480Ala) rs587780284
NM_000489.5(ATRX):c.1439C>T (p.Thr480Ile) rs782751824
NM_000489.5(ATRX):c.1446A>G (p.Glu482=) rs886044778
NM_000489.5(ATRX):c.1474G>A (p.Glu492Lys) rs1418531949
NM_000489.5(ATRX):c.1478A>G (p.His493Arg) rs947189709
NM_000489.5(ATRX):c.1522A>C (p.Asn508His) rs398123421
NM_000489.5(ATRX):c.1738del (p.Ala580fs) rs886039493
NM_000489.5(ATRX):c.1753G>T (p.Glu585Ter) rs886044898
NM_000489.5(ATRX):c.1804G>A (p.Gly602Ser) rs886044864
NM_000489.5(ATRX):c.1868A>G (p.Lys623Arg) rs145678415
NM_000489.5(ATRX):c.189+1G>A rs398123422
NM_000489.5(ATRX):c.189+7A>G
NM_000489.5(ATRX):c.2066A>G (p.Gln689Arg) rs929951326
NM_000489.5(ATRX):c.2102G>A (p.Arg701His) rs797044563
NM_000489.5(ATRX):c.2595C>G (p.His865Gln) rs61752455
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.2629G>A (p.Asp877Asn) rs886044896
NM_000489.5(ATRX):c.2680A>C (p.Thr894Pro) rs145807475
NM_000489.5(ATRX):c.2782G>C (p.Glu928Gln) rs797044792
NM_000489.5(ATRX):c.2785= (p.Glu929=) rs3088074
NM_000489.5(ATRX):c.2789G>C (p.Ser930Thr) rs727503817
NM_000489.5(ATRX):c.278A>T (p.Asp93Val) rs1064796774
NM_000489.5(ATRX):c.2806G>C (p.Val936Leu) rs149232501
NM_000489.5(ATRX):c.2875G>T (p.Asp959Tyr) rs1057523431
NM_000489.5(ATRX):c.3065G>A (p.Arg1022Gln) rs781811015
NM_000489.5(ATRX):c.3091G>A (p.Gly1031Ser) rs782781078
NM_000489.5(ATRX):c.3224A>G (p.Asp1075Gly) rs1064796745
NM_000489.5(ATRX):c.3281G>A (p.Cys1094Tyr) rs146521598
NM_000489.5(ATRX):c.3287T>G (p.Leu1096Trp) rs1337990307
NM_000489.5(ATRX):c.3395T>C (p.Ile1132Thr) rs587780285
NM_000489.5(ATRX):c.3421A>C (p.Ser1141Arg) rs1178889640
NM_000489.5(ATRX):c.3495_3500del (p.Asn1165_Lys1166del) rs1557137281
NM_000489.5(ATRX):c.3555G>C (p.Lys1185Asn) rs782696086
NM_000489.5(ATRX):c.3641A>T (p.Asn1214Ile) rs144527582
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.4120+4A>C rs200420513
NM_000489.5(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301
NM_000489.5(ATRX):c.4224G>A (p.Lys1408=) rs781984385
NM_000489.5(ATRX):c.4249C>T (p.Arg1417Trp) rs1557118764
NM_000489.5(ATRX):c.4312A>G (p.Asn1438Asp) rs971839925
NM_000489.5(ATRX):c.4347_4349AGA[1] (p.Glu1464del) rs587780288
NM_000489.5(ATRX):c.4347_4358del (p.Glu1461_Glu1464del) rs1557117424
NM_000489.5(ATRX):c.4353_4355GGA[2] (p.Glu1464del) rs782630348
NM_000489.5(ATRX):c.4509A>T (p.Arg1503Ser) rs1057517997
NM_000489.5(ATRX):c.4557+33G>A rs5912716
NM_000489.5(ATRX):c.463_474delinsT (p.Thr154_Glu155insTer) rs398123424
NM_000489.5(ATRX):c.4720T>C (p.Cys1574Arg) rs797044659
NM_000489.5(ATRX):c.4810-3T>C
NM_000489.5(ATRX):c.4905G>T (p.Met1635Ile) rs1045875195
NM_000489.5(ATRX):c.4938A>G (p.Lys1646=) rs797044664
NM_000489.5(ATRX):c.5072A>C (p.Gln1691Pro) rs1569533321
NM_000489.5(ATRX):c.5087_5089dup (p.Lys1696dup) rs1557106446
NM_000489.5(ATRX):c.5161G>A (p.Gly1721Ser) rs727503816
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.5553A>C (p.Leu1851Phe) rs1569531208
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.5(ATRX):c.5693A>G (p.Asn1898Ser) rs797044686
NM_000489.5(ATRX):c.5722G>T (p.Asp1908Tyr) rs1057522290
NM_000489.5(ATRX):c.5787-20G>T rs185359850
NM_000489.5(ATRX):c.5884T>A (p.Ser1962Thr) rs398123426
NM_000489.5(ATRX):c.594+8A>G rs1557145476
NM_000489.5(ATRX):c.5957-1G>A rs886041903
NM_000489.5(ATRX):c.5966C>T (p.Thr1989Ile) rs1557082422
NM_000489.5(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002
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.6110+15A>G rs1309299805
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.6271A>G (p.Thr2091Ala) rs1569525091
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.6631G>T (p.Glu2211Ter) rs386352283
NM_000489.5(ATRX):c.668G>A (p.Cys223Tyr) rs1557142844
NM_000489.5(ATRX):c.6753C>T (p.Tyr2251=) rs797044495
NM_000489.5(ATRX):c.6777C>G (p.Asp2259Glu) rs398123427
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.7156C>T (p.Arg2386Ter) rs122445099
NM_000489.5(ATRX):c.7200+9del
NM_000489.5(ATRX):c.7201-4A>G rs782317502
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.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.7394del (p.Gly2465fs) rs398123428
NM_000489.5(ATRX):c.7435A>G (p.Met2479Val) rs200478641
NM_000489.5(ATRX):c.830T>G (p.Val277Gly) rs797044793
NM_000489.5(ATRX):c.831C>T (p.Val277=) rs142561199
NM_000489.5(ATRX):c.847G>A (p.Val283Ile) rs1057522580
NM_000489.5(ATRX):c.884_886AGA[2] (p.Lys297del) rs1064795918
NM_000489.5(ATRX):c.926A>G (p.Tyr309Cys) rs782058125

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