ClinVar Miner

List of variants in gene ATRX reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 221
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.1168C>T (p.Arg390Cys) rs150484080 0.00007
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301 0.00007
NM_000489.6(ATRX):c.2312C>T (p.Ala771Val) rs376906761 0.00006
NM_000489.6(ATRX):c.1478A>G (p.His493Arg) rs947189709 0.00005
NM_000489.6(ATRX):c.3122A>T (p.Asp1041Val) rs1412505197 0.00005
NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys) rs369871569 0.00004
NM_000489.6(ATRX):c.2150C>T (p.Pro717Leu) rs372617572 0.00003
NM_000489.6(ATRX):c.3224A>G (p.Asp1075Gly) rs1064796745 0.00003
NM_000489.6(ATRX):c.4070A>G (p.Lys1357Arg) rs1064796812 0.00003
NM_000489.6(ATRX):c.6630T>C (p.Phe2210=) rs147169853 0.00003
NM_000489.6(ATRX):c.1130C>T (p.Ala377Val) rs781955237 0.00002
NM_000489.6(ATRX):c.1474G>A (p.Glu492Lys) rs1418531949 0.00002
NM_000489.6(ATRX):c.1480A>G (p.Lys494Glu) rs1394070657 0.00002
NM_000489.6(ATRX):c.2191T>C (p.Ser731Pro) rs2071340254 0.00002
NM_000489.6(ATRX):c.2815G>C (p.Val939Leu) rs149195735 0.00002
NM_000489.6(ATRX):c.2953A>G (p.Ser985Gly) rs782424160 0.00002
NM_000489.6(ATRX):c.3848A>G (p.Asn1283Ser) rs201588422 0.00002
NM_000489.6(ATRX):c.631C>T (p.Arg211Cys) rs782241890 0.00002
NM_000489.6(ATRX):c.1043T>C (p.Val348Ala) rs975407914 0.00001
NM_000489.6(ATRX):c.1202A>G (p.Asp401Gly) rs2071414010 0.00001
NM_000489.6(ATRX):c.1236C>A (p.Asp412Glu) rs951634317 0.00001
NM_000489.6(ATRX):c.139A>G (p.Ile47Val) rs782584831 0.00001
NM_000489.6(ATRX):c.1608G>T (p.Met536Ile) rs1057518436 0.00001
NM_000489.6(ATRX):c.1894G>A (p.Glu632Lys) rs1557140572 0.00001
NM_000489.6(ATRX):c.1948G>C (p.Glu650Gln) rs782760805 0.00001
NM_000489.6(ATRX):c.2066A>G (p.Gln689Arg) rs929951326 0.00001
NM_000489.6(ATRX):c.2116A>T (p.Ser706Cys) rs918710917 0.00001
NM_000489.6(ATRX):c.2265T>G (p.Asn755Lys) rs2519949779 0.00001
NM_000489.6(ATRX):c.2470G>C (p.Glu824Gln) rs2071304603 0.00001
NM_000489.6(ATRX):c.250T>G (p.Ser84Ala) rs1569540556 0.00001
NM_000489.6(ATRX):c.2617G>C (p.Glu873Gln) rs967071645 0.00001
NM_000489.6(ATRX):c.2692G>C (p.Asp898His) rs781903868 0.00001
NM_000489.6(ATRX):c.2743A>G (p.Ser915Gly) rs2071273880 0.00001
NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln) rs797044792 0.00001
NM_000489.6(ATRX):c.278A>T (p.Asp93Val) rs1064796774 0.00001
NM_000489.6(ATRX):c.2875G>T (p.Asp959Tyr) rs1057523431 0.00001
NM_000489.6(ATRX):c.3270G>C (p.Glu1090Asp) rs781992894 0.00001
NM_000489.6(ATRX):c.3649G>C (p.Gly1217Arg) rs781917332 0.00001
NM_000489.6(ATRX):c.3655G>A (p.Gly1219Arg) rs1057524797 0.00001
NM_000489.6(ATRX):c.3676A>C (p.Ile1226Leu) rs1557136863 0.00001
NM_000489.6(ATRX):c.4015A>G (p.Arg1339Gly) rs782438788 0.00001
NM_000489.6(ATRX):c.4081A>G (p.Lys1361Glu) rs1886161029 0.00001
NM_000489.6(ATRX):c.485-7C>G rs1225852818 0.00001
NM_000489.6(ATRX):c.4905G>T (p.Met1635Ile) rs1045875195 0.00001
NM_000489.6(ATRX):c.4956+3A>G rs1434725771 0.00001
NM_000489.6(ATRX):c.5068G>A (p.Ala1690Thr) rs2068194249 0.00001
NM_000489.6(ATRX):c.6223G>A (p.Gly2075Arg) rs1440854109 0.00001
NM_000489.6(ATRX):c.6281C>T (p.Ser2094Leu) rs782019900 0.00001
NM_000489.6(ATRX):c.632G>A (p.Arg211His) rs2520035504 0.00001
NM_000489.6(ATRX):c.847G>A (p.Val283Ile) rs1057522580 0.00001
NM_000489.6(ATRX):c.1007C>T (p.Ser336Phe) rs2148632640
NM_000489.6(ATRX):c.1117T>C (p.Phe373Leu) rs782428493
NM_000489.6(ATRX):c.1150A>G (p.Ser384Gly)
NM_000489.6(ATRX):c.1157C>G (p.Ala386Gly) rs2148629226
NM_000489.6(ATRX):c.1187A>G (p.Lys396Arg) rs2520005164
NM_000489.6(ATRX):c.1192G>A (p.Val398Met)
NM_000489.6(ATRX):c.1196T>G (p.Leu399Trp) rs2148628404
NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn) rs2071413817
NM_000489.6(ATRX):c.1247A>C (p.Glu416Ala) rs2071410959
NM_000489.6(ATRX):c.1252C>G (p.Arg418Gly) rs1057523785
NM_000489.6(ATRX):c.1276G>A (p.Glu426Lys) rs2148626588
NM_000489.6(ATRX):c.1322C>G (p.Thr441Arg) rs2148625660
NM_000489.6(ATRX):c.1382A>T (p.Glu461Val)
NM_000489.6(ATRX):c.1516C>T (p.Pro506Ser) rs1449091873
NM_000489.6(ATRX):c.1524C>G (p.Asn508Lys)
NM_000489.6(ATRX):c.1556C>A (p.Ser519Tyr) rs2148619839
NM_000489.6(ATRX):c.1595T>C (p.Leu532Pro) rs782509149
NM_000489.6(ATRX):c.1598A>T (p.Glu533Val) rs2148618900
NM_000489.6(ATRX):c.1601C>G (p.Thr534Ser) rs2071384743
NM_000489.6(ATRX):c.160T>G (p.Ser54Ala)
NM_000489.6(ATRX):c.1610A>T (p.Glu537Val)
NM_000489.6(ATRX):c.164A>G (p.Asp55Gly) rs1332942994
NM_000489.6(ATRX):c.1657G>A (p.Glu553Lys)
NM_000489.6(ATRX):c.1684A>G (p.Lys562Glu) rs2519978440
NM_000489.6(ATRX):c.1819G>A (p.Glu607Lys)
NM_000489.6(ATRX):c.1828C>G (p.Gln610Glu) rs2148613975
NM_000489.6(ATRX):c.1843T>C (p.Tyr615His)
NM_000489.6(ATRX):c.1865C>T (p.Pro622Leu) rs1557140622
NM_000489.6(ATRX):c.1952C>T (p.Ser651Phe)
NM_000489.6(ATRX):c.2033A>G (p.Asp678Gly)
NM_000489.6(ATRX):c.2095G>C (p.Asp699His)
NM_000489.6(ATRX):c.2184T>G (p.Asn728Lys) rs2148604807
NM_000489.6(ATRX):c.2282A>G (p.His761Arg) rs782493929
NM_000489.6(ATRX):c.2320G>A (p.Asp774Asn) rs1557139871
NM_000489.6(ATRX):c.2320G>T (p.Asp774Tyr) rs1557139871
NM_000489.6(ATRX):c.2321A>T (p.Asp774Val)
NM_000489.6(ATRX):c.2326A>G (p.Lys776Glu)
NM_000489.6(ATRX):c.233G>T (p.Arg78Leu) rs2072253922
NM_000489.6(ATRX):c.2363C>T (p.Ser788Leu)
NM_000489.6(ATRX):c.2384G>A (p.Gly795Asp) rs892981661
NM_000489.6(ATRX):c.2401T>C (p.Ser801Pro) rs1360383687
NM_000489.6(ATRX):c.2461_2466del (p.Leu821_Glu822del) rs781862926
NM_000489.6(ATRX):c.2492T>C (p.Ile831Thr) rs1603220048
NM_000489.6(ATRX):c.24A>C (p.Glu8Asp) rs2148752831
NM_000489.6(ATRX):c.2541T>G (p.Phe847Leu) rs782483240
NM_000489.6(ATRX):c.2554G>T (p.Asp852Tyr)
NM_000489.6(ATRX):c.2557G>A (p.Glu853Lys) rs2148594511
NM_000489.6(ATRX):c.259A>G (p.Thr87Ala) rs1557150036
NM_000489.6(ATRX):c.2606A>G (p.Lys869Arg) rs2148593197
NM_000489.6(ATRX):c.2621G>C (p.Gly874Ala) rs782339652
NM_000489.6(ATRX):c.2647C>A (p.Gln883Lys) rs868926015
NM_000489.6(ATRX):c.2686G>C (p.Asp896His) rs2071279824
NM_000489.6(ATRX):c.26G>A (p.Ser9Asn) rs1237969366
NM_000489.6(ATRX):c.2761G>A (p.Val921Ile) rs587778088
NM_000489.6(ATRX):c.2782GAG[1] (p.Glu929del) rs2519925666
NM_000489.6(ATRX):c.2928A>C (p.Glu976Asp)
NM_000489.6(ATRX):c.2933C>T (p.Ser978Phe)
NM_000489.6(ATRX):c.3001A>C (p.Lys1001Gln) rs2148583946
NM_000489.6(ATRX):c.3015G>A (p.Met1005Ile) rs2148583634
NM_000489.6(ATRX):c.3197A>G (p.Lys1066Arg)
NM_000489.6(ATRX):c.3266_3274del (p.Arg1089_Lys1091del) rs2519902824
NM_000489.6(ATRX):c.3278G>T (p.Arg1093Met) rs1557137763
NM_000489.6(ATRX):c.3279G>C (p.Arg1093Ser)
NM_000489.6(ATRX):c.3343T>G (p.Tyr1115Asp)
NM_000489.6(ATRX):c.3392G>C (p.Arg1131Thr) rs2071220353
NM_000489.6(ATRX):c.3491A>G (p.Asp1164Gly)
NM_000489.6(ATRX):c.3495_3500del (p.Asn1165_Lys1166del) rs1557137281
NM_000489.6(ATRX):c.3499A>G (p.Lys1167Glu)
NM_000489.6(ATRX):c.350C>A (p.Thr117Asn)
NM_000489.6(ATRX):c.3545A>G (p.Lys1182Arg) rs2071206091
NM_000489.6(ATRX):c.3546G>C (p.Lys1182Asn) rs1490780716
NM_000489.6(ATRX):c.3589C>G (p.Gln1197Glu) rs2148569397
NM_000489.6(ATRX):c.3592G>C (p.Ala1198Pro) rs2071202324
NM_000489.6(ATRX):c.3610TCT[2] (p.Ser1206del) rs782162142
NM_000489.6(ATRX):c.3641A>G (p.Asn1214Ser) rs144527582
NM_000489.6(ATRX):c.3644C>T (p.Ser1215Phe) rs2148568049
NM_000489.6(ATRX):c.3647T>C (p.Ile1216Thr) rs2148567965
NM_000489.6(ATRX):c.3670C>G (p.Gln1224Glu) rs1057522687
NM_000489.6(ATRX):c.3853T>C (p.Ser1285Pro) rs2148498031
NM_000489.6(ATRX):c.3933A>G (p.Pro1311=) rs2148496532
NM_000489.6(ATRX):c.3968A>T (p.Glu1323Val) rs2148489892
NM_000489.6(ATRX):c.3974A>G (p.Asp1325Gly) rs2070045443
NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile) rs1569536694
NM_000489.6(ATRX):c.4035G>C (p.Leu1345Phe) rs111725949
NM_000489.6(ATRX):c.4126A>G (p.Ser1376Gly) rs2522781036
NM_000489.6(ATRX):c.415G>T (p.Asp139Tyr) rs2148669890
NM_000489.6(ATRX):c.4169G>A (p.Ser1390Asn) rs2148460882
NM_000489.6(ATRX):c.4215-4T>A rs2148451946
NM_000489.6(ATRX):c.4312A>G (p.Asn1438Asp) rs971839925
NM_000489.6(ATRX):c.4321A>C (p.Asn1441His) rs2148440711
NM_000489.6(ATRX):c.4344_4358del (p.Lys1449_Glu1453del) rs1557117436
NM_000489.6(ATRX):c.4365GGA[6] (p.Glu1464dup) rs398123423
NM_000489.6(ATRX):c.4392A>C (p.Glu1464Asp) rs782637572
NM_000489.6(ATRX):c.4550T>C (p.Leu1517Ser)
NM_000489.6(ATRX):c.4582C>A (p.Pro1528Thr) rs2148360412
NM_000489.6(ATRX):c.467A>G (p.Asn156Ser) rs2148669776
NM_000489.6(ATRX):c.4754C>T (p.Ser1585Phe) rs2148350101
NM_000489.6(ATRX):c.4808A>T (p.Gln1603Leu)
NM_000489.6(ATRX):c.4865C>T (p.Ala1622Val) rs1135401793
NM_000489.6(ATRX):c.4882C>T (p.Leu1628Phe) rs2068211810
NM_000489.6(ATRX):c.48G>A (p.Gln16=) rs2148752584
NM_000489.6(ATRX):c.4956G>A (p.Glu1652=)
NM_000489.6(ATRX):c.4957-4A>G rs1602979818
NM_000489.6(ATRX):c.5011A>T (p.Arg1671Trp) rs2522373909
NM_000489.6(ATRX):c.5024A>G (p.Asp1675Gly)
NM_000489.6(ATRX):c.5087_5089dup (p.Lys1696dup) rs1557106446
NM_000489.6(ATRX):c.5212A>G (p.Ile1738Val) rs1057523890
NM_000489.6(ATRX):c.5287A>G (p.Asn1763Asp) rs2148260821
NM_000489.6(ATRX):c.5393G>T (p.Arg1798Ile)
NM_000489.6(ATRX):c.5456A>T (p.Asp1819Val) rs2522020543
NM_000489.6(ATRX):c.556A>C (p.Ile186Leu)
NM_000489.6(ATRX):c.5617T>C (p.Phe1873Leu) rs2148157848
NM_000489.6(ATRX):c.5638A>G (p.Ser1880Gly)
NM_000489.6(ATRX):c.5639G>A (p.Ser1880Asn)
NM_000489.6(ATRX):c.5713G>T (p.Asp1905Tyr)
NM_000489.6(ATRX):c.5716A>C (p.Ser1906Arg)
NM_000489.6(ATRX):c.5722G>T (p.Asp1908Tyr) rs1057522290
NM_000489.6(ATRX):c.5773G>A (p.Asp1925Asn) rs1157154167
NM_000489.6(ATRX):c.5776G>A (p.Asp1926Asn)
NM_000489.6(ATRX):c.5797_5799del (p.Lys1933del)
NM_000489.6(ATRX):c.5821A>G (p.Ser1941Gly)
NM_000489.6(ATRX):c.5831G>T (p.Ser1944Ile)
NM_000489.6(ATRX):c.5932_5934del (p.Ser1978del)
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del) rs782391479
NM_000489.6(ATRX):c.5975C>A (p.Ser1992Tyr) rs2521524090
NM_000489.6(ATRX):c.6020C>T (p.Thr2007Ile)
NM_000489.6(ATRX):c.6085A>G (p.Met2029Val) rs2148115836
NM_000489.6(ATRX):c.6097A>G (p.Ile2033Val) rs1057521636
NM_000489.6(ATRX):c.6142G>T (p.Asp2048Tyr) rs2148090181
NM_000489.6(ATRX):c.6147G>A (p.Leu2049=) rs2148090041
NM_000489.6(ATRX):c.615G>A (p.Met205Ile)
NM_000489.6(ATRX):c.6169G>C (p.Ala2057Pro) rs2148089567
NM_000489.6(ATRX):c.6196G>A (p.Asp2066Asn)
NM_000489.6(ATRX):c.6202C>T (p.Pro2068Ser) rs1557079194
NM_000489.6(ATRX):c.6208A>G (p.Ile2070Val)
NM_000489.6(ATRX):c.6241A>T (p.Ile2081Phe) rs1210447127
NM_000489.6(ATRX):c.6406G>A (p.Asp2136Asn) rs2064896365
NM_000489.6(ATRX):c.6464G>A (p.Gly2155Glu) rs1057518599
NM_000489.6(ATRX):c.6484G>A (p.Val2162Ile) rs1569523175
NM_000489.6(ATRX):c.650A>T (p.Asp217Val)
NM_000489.6(ATRX):c.6641T>C (p.Leu2214Ser)
NM_000489.6(ATRX):c.6653C>T (p.Pro2218Leu) rs2147941337
NM_000489.6(ATRX):c.6669G>T (p.Lys2223Asn)
NM_000489.6(ATRX):c.6733A>C (p.Lys2245Gln) rs2520040871
NM_000489.6(ATRX):c.6800C>T (p.Thr2267Ile)
NM_000489.6(ATRX):c.6898G>A (p.Val2300Ile)
NM_000489.6(ATRX):c.6920C>T (p.Pro2307Leu) rs2147749477
NM_000489.6(ATRX):c.6941G>T (p.Gly2314Val) rs2147748802
NM_000489.6(ATRX):c.6957G>A (p.Met2319Ile)
NM_000489.6(ATRX):c.7024G>A (p.Val2342Met) rs2063229309
NM_000489.6(ATRX):c.7072-3T>G rs782686541
NM_000489.6(ATRX):c.7084A>G (p.Met2362Val) rs2147738058
NM_000489.6(ATRX):c.70C>T (p.His24Tyr) rs1191670776
NM_000489.6(ATRX):c.7104A>C (p.Gln2368His) rs2147737907
NM_000489.6(ATRX):c.7141G>A (p.Glu2381Lys) rs1557041077
NM_000489.6(ATRX):c.7229T>G (p.Met2410Arg) rs782388992
NM_000489.6(ATRX):c.7263GCAACA[1] (p.Gln2424_Gln2425del) rs2147651246
NM_000489.6(ATRX):c.7334T>A (p.Ile2445Asn) rs1057520923
NM_000489.6(ATRX):c.733C>G (p.Leu245Val) rs2071444982
NM_000489.6(ATRX):c.7368G>A (p.Met2456Ile) rs2147648172
NM_000489.6(ATRX):c.7406C>T (p.Pro2469Leu) rs782445691
NM_000489.6(ATRX):c.7408C>T (p.Pro2470Ser)
NM_000489.6(ATRX):c.763A>C (p.Thr255Pro) rs1210722443
NM_000489.6(ATRX):c.764C>T (p.Thr255Ile) rs2148638441
NM_000489.6(ATRX):c.782A>T (p.Asn261Ile)
NM_000489.6(ATRX):c.806A>G (p.His269Arg) rs2148637625
NM_000489.6(ATRX):c.829G>C (p.Val277Leu) rs1569539465
NM_000489.6(ATRX):c.832A>G (p.Thr278Ala) rs2148636896
NM_000489.6(ATRX):c.868T>G (p.Leu290Val)
NM_000489.6(ATRX):c.884AGA[2] (p.Lys297del) rs1064795918
NM_000489.6(ATRX):c.98G>A (p.Ser33Asn) rs2520309965

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