ClinVar Miner

List of variants in gene ATRX reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 318
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.2785= (p.Glu929=) rs3088074 0.49116
NM_000489.6(ATRX):c.3943+143= rs5912227 0.49062
NM_000489.6(ATRX):c.595-36= rs35268552 0.48850
NM_000489.6(ATRX):c.6110+226= rs3027544 0.46359
NM_000489.6(ATRX):c.6218-297A>G rs3027539 0.05879
NM_000489.6(ATRX):c.4659T>C (p.His1553=) rs25641 0.05840
NM_000489.6(ATRX):c.4214+236C>T rs34060420 0.05131
NM_000489.6(ATRX):c.6217+244G>A rs45526440 0.03567
NM_000489.6(ATRX):c.4121-248A>G rs3761508 0.03537
NM_000489.6(ATRX):c.3944-266C>T rs112759632 0.03044
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.03016
NM_000489.6(ATRX):c.6110+81C>T rs45612438 0.02559
NM_000489.6(ATRX):c.4317+301C>T rs148638497 0.02523
NM_000489.6(ATRX):c.6975+146C>T rs45509291 0.02014
NM_000489.6(ATRX):c.6111-146A>G rs45503998 0.01689
NM_000489.6(ATRX):c.4557+33G>A rs5912716 0.01177
NM_000489.6(ATRX):c.288A>G (p.Lys96=) rs45574238 0.01127
NM_000489.6(ATRX):c.243-97G>C rs41307399 0.01110
NM_000489.6(ATRX):c.190-117G>A rs45489496 0.00882
NM_000489.6(ATRX):c.6111-68del rs200678890 0.00860
NM_000489.6(ATRX):c.4558-185C>T rs45606642 0.00853
NM_000489.6(ATRX):c.*213C>T rs3027524 0.00674
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu) rs35738915 0.00636
NM_000489.6(ATRX):c.20+22T>C rs45558235 0.00497
NM_000489.6(ATRX):c.5134+41A>T rs45471991 0.00421
NM_000489.6(ATRX):c.4318-167C>T rs186123317 0.00409
NM_000489.6(ATRX):c.3809+60A>C rs185436258 0.00382
NM_000489.6(ATRX):c.6976-202A>C rs3027526 0.00381
NM_000489.6(ATRX):c.4635C>A (p.Thr1545=) rs148975763 0.00350
NM_000489.6(ATRX):c.6110+132G>C rs45567835 0.00315
NM_000489.6(ATRX):c.3810-171T>C rs183973145 0.00309
NM_000489.6(ATRX):c.6849+31G>T rs184484318 0.00273
NM_000489.6(ATRX):c.134-304G>A rs782268751 0.00178
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu) rs61758732 0.00137
NM_000489.6(ATRX):c.5448+124T>C rs181328728 0.00137
NM_000489.6(ATRX):c.4239A>G (p.Glu1413=) rs141974120 0.00129
NM_000489.6(ATRX):c.6504+36T>C rs112091492 0.00122
NM_000489.6(ATRX):c.846C>T (p.Ser282=) rs148015780 0.00101
NM_000489.6(ATRX):c.5787-20G>T rs185359850 0.00090
NM_000489.6(ATRX):c.2540T>C (p.Phe847Ser) rs45624939 0.00075
NM_000489.6(ATRX):c.2531C>A (p.Thr844Lys) rs139131007 0.00056
NM_000489.6(ATRX):c.5349A>G (p.Pro1783=) rs149960511 0.00056
NM_000489.6(ATRX):c.6850-31T>A rs370958666 0.00052
NM_000489.6(ATRX):c.1423C>G (p.His475Asp) rs146863015 0.00050
NM_000489.6(ATRX):c.4120+4A>C rs200420513 0.00046
NM_000489.6(ATRX):c.190-40G>A rs374828845 0.00041
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp) rs61752456 0.00041
NM_000489.6(ATRX):c.3641A>T (p.Asn1214Ile) rs144527582 0.00037
NM_000489.6(ATRX):c.1303A>G (p.Ile435Val) rs371580333 0.00027
NM_000489.6(ATRX):c.2680A>C (p.Thr894Pro) rs145807475 0.00026
NM_000489.6(ATRX):c.1825C>G (p.Pro609Ala) rs186742436 0.00024
NM_000489.6(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002 0.00024
NM_000489.6(ATRX):c.6218-34A>C rs781888261 0.00023
NM_000489.6(ATRX):c.6405C>T (p.Phe2135=) rs148659669 0.00023
NM_000489.6(ATRX):c.1467C>T (p.Thr489=) rs199929884 0.00020
NM_000489.6(ATRX):c.2720G>A (p.Arg907Gln) rs143413618 0.00020
NM_000489.6(ATRX):c.4215-5G>A rs111833322 0.00018
NM_000489.6(ATRX):c.2650G>A (p.Glu884Lys) rs200343648 0.00013
NM_000489.6(ATRX):c.546A>G (p.Gln182=) rs375794120 0.00012
NM_000489.6(ATRX):c.5787-21T>C rs781885349 0.00011
NM_000489.6(ATRX):c.1256C>T (p.Ala419Val) rs374958282 0.00010
NM_000489.6(ATRX):c.3880G>C (p.Asp1294His) rs782386546 0.00010
NM_000489.6(ATRX):c.4214+6A>G rs782562759 0.00010
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val) rs374244026 0.00010
NM_000489.6(ATRX):c.1606A>G (p.Met536Val) rs781865069 0.00009
NM_000489.6(ATRX):c.189+7A>G rs781842591 0.00009
NM_000489.6(ATRX):c.570T>G (p.Pro190=) rs188831993 0.00009
NM_000489.6(ATRX):c.798C>T (p.Tyr266=) rs376341197 0.00009
NM_000489.6(ATRX):c.1798A>G (p.Ile600Val) rs375129029 0.00008
NM_000489.6(ATRX):c.5221A>C (p.Arg1741=) rs782633224 0.00008
NM_000489.6(ATRX):c.595-43T>C rs782072325 0.00008
NM_000489.6(ATRX):c.1168C>T (p.Arg390Cys) rs150484080 0.00007
NM_000489.6(ATRX):c.1245C>T (p.Ser415=) rs141815992 0.00007
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301 0.00007
NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr) rs149249195 0.00006
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu) rs61752457 0.00006
NM_000489.6(ATRX):c.2312C>T (p.Ala771Val) rs376906761 0.00006
NM_000489.6(ATRX):c.3218G>C (p.Ser1073Thr) rs781825074 0.00006
NM_000489.6(ATRX):c.4859G>A (p.Ser1620Asn) rs781875880 0.00006
NM_000489.6(ATRX):c.1077G>T (p.Leu359=) rs782504858 0.00005
NM_000489.6(ATRX):c.1169G>A (p.Arg390His) rs367986587 0.00005
NM_000489.6(ATRX):c.1478A>G (p.His493Arg) rs947189709 0.00005
NM_000489.6(ATRX):c.2701A>G (p.Ile901Val) rs587778087 0.00005
NM_000489.6(ATRX):c.3907A>G (p.Thr1303Ala) rs781836912 0.00005
NM_000489.6(ATRX):c.7201-4A>G rs782317502 0.00005
NM_000489.6(ATRX):c.1047C>G (p.Pro349=) rs200288042 0.00004
NM_000489.6(ATRX):c.1438A>G (p.Thr480Ala) rs587780284 0.00004
NM_000489.6(ATRX):c.1625T>C (p.Val542Ala) rs782158232 0.00004
NM_000489.6(ATRX):c.2423G>A (p.Arg808Gln) rs782181535 0.00004
NM_000489.6(ATRX):c.2652G>C (p.Glu884Asp) rs782123222 0.00004
NM_000489.6(ATRX):c.3042T>C (p.Asp1014=) rs140476563 0.00004
NM_000489.6(ATRX):c.3207G>A (p.Gly1069=) rs782472957 0.00004
NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys) rs369871569 0.00004
NM_000489.6(ATRX):c.1480A>G (p.Lys494Glu) rs1394070657 0.00003
NM_000489.6(ATRX):c.1880G>A (p.Cys627Tyr) rs370584074 0.00003
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.3537C>T (p.Val1179=) rs782800250 0.00003
NM_000489.6(ATRX):c.5073A>G (p.Gln1691=) rs781845474 0.00003
NM_000489.6(ATRX):c.5697+13A>C rs782387510 0.00003
NM_000489.6(ATRX):c.6024T>C (p.Asp2008=) rs782159753 0.00003
NM_000489.6(ATRX):c.738C>T (p.Arg246=) rs781856746 0.00003
NM_000489.6(ATRX):c.1130C>T (p.Ala377Val) rs781955237 0.00002
NM_000489.6(ATRX):c.1257G>A (p.Ala419=) rs185550133 0.00002
NM_000489.6(ATRX):c.1474G>A (p.Glu492Lys) rs1418531949 0.00002
NM_000489.6(ATRX):c.2524C>T (p.Pro842Ser) rs782196312 0.00002
NM_000489.6(ATRX):c.2658G>C (p.Glu886Asp) rs141180098 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.4070A>G (p.Lys1357Arg) rs1064796812 0.00002
NM_000489.6(ATRX):c.7044A>G (p.Gln2348=) rs375935735 0.00002
NM_000489.6(ATRX):c.7083C>T (p.Asn2361=) rs3027525 0.00002
NM_000489.6(ATRX):c.7111G>A (p.Ala2371Thr) rs147341551 0.00002
NM_000489.6(ATRX):c.1150A>C (p.Ser384Arg) rs782196033 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.1817A>G (p.Gln606Arg) rs1557140723 0.00001
NM_000489.6(ATRX):c.1894G>A (p.Glu632Lys) rs1557140572 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.2209A>G (p.Ile737Val) rs782110483 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.2648A>G (p.Gln883Arg) rs587778086 0.00001
NM_000489.6(ATRX):c.2692G>C (p.Asp898His) rs781903868 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.3153T>G (p.Asp1051Glu) rs1453641319 0.00001
NM_000489.6(ATRX):c.3270G>C (p.Glu1090Asp) rs781992894 0.00001
NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr) rs587780285 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.3687G>A (p.Val1229=) rs1051682 0.00001
NM_000489.6(ATRX):c.4015A>G (p.Arg1339Gly) rs782438788 0.00001
NM_000489.6(ATRX):c.4031A>G (p.Lys1344Arg) rs782556767 0.00001
NM_000489.6(ATRX):c.4250G>A (p.Arg1417Gln) rs1557118749 0.00001
NM_000489.6(ATRX):c.4383G>A (p.Glu1461=) rs2069285846 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.6132C>T (p.Leu2044=) rs1557079262 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.631C>T (p.Arg211Cys) rs782241890 0.00001
NM_000489.6(ATRX):c.6327-35T>A rs782050372 0.00001
NM_000489.6(ATRX):c.7072-8T>C rs782602387 0.00001
NM_000489.6(ATRX):c.847G>A (p.Val283Ile) rs1057522580 0.00001
NM_000489.6(ATRX):c.909A>G (p.Glu303=) rs1557142630 0.00001
GRCh38/hg38 Xq21.1(chrX:77490616-77524711)x1
NM_000489.6(ATRX):c.1007C>T (p.Ser336Phe)
NM_000489.6(ATRX):c.1043T>C (p.Val348Ala) rs975407914
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.6(ATRX):c.1117T>C (p.Phe373Leu)
NM_000489.6(ATRX):c.1157C>G (p.Ala386Gly)
NM_000489.6(ATRX):c.1187A>G (p.Lys396Arg)
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.1252C>G (p.Arg418Gly) rs1057523785
NM_000489.6(ATRX):c.1276G>A (p.Glu426Lys)
NM_000489.6(ATRX):c.1322C>G (p.Thr441Arg) rs2148625660
NM_000489.6(ATRX):c.134-9C>T rs782350220
NM_000489.6(ATRX):c.1516C>T (p.Pro506Ser) rs1449091873
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)
NM_000489.6(ATRX):c.1601C>G (p.Thr534Ser)
NM_000489.6(ATRX):c.164A>G (p.Asp55Gly)
NM_000489.6(ATRX):c.1684A>G (p.Lys562Glu)
NM_000489.6(ATRX):c.1738del (p.Ala580fs) rs886039493
NM_000489.6(ATRX):c.1753G>T (p.Glu585Ter) rs886044898
NM_000489.6(ATRX):c.1828C>G (p.Gln610Glu)
NM_000489.6(ATRX):c.1865C>T (p.Pro622Leu)
NM_000489.6(ATRX):c.2184T>G (p.Asn728Lys) rs2148604807
NM_000489.6(ATRX):c.2241TTC[2] (p.Ser750del) rs1297294136
NM_000489.6(ATRX):c.2265T>G (p.Asn755Lys)
NM_000489.6(ATRX):c.2320G>A (p.Asp774Asn) rs1557139871
NM_000489.6(ATRX):c.2320G>T (p.Asp774Tyr)
NM_000489.6(ATRX):c.233G>T (p.Arg78Leu)
NM_000489.6(ATRX):c.2342G>A (p.Arg781Gln) rs1603220762
NM_000489.6(ATRX):c.2384G>A (p.Gly795Asp) rs892981661
NM_000489.6(ATRX):c.2461_2466del (p.Leu821_Glu822del) rs781862926
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.2557G>A (p.Glu853Lys) rs2148594511
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.6(ATRX):c.259A>G (p.Thr87Ala) rs1557150036
NM_000489.6(ATRX):c.2606A>G (p.Lys869Arg)
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.264G>A (p.Lys88=) rs782056075
NM_000489.6(ATRX):c.26G>A (p.Ser9Asn)
NM_000489.6(ATRX):c.2743A>G (p.Ser915Gly) rs2071273880
NM_000489.6(ATRX):c.2761G>A (p.Val921Ile)
NM_000489.6(ATRX):c.2777G>A (p.Gly926Glu) rs2071271385
NM_000489.6(ATRX):c.2782GAG[1] (p.Glu929del)
NM_000489.6(ATRX):c.3015G>A (p.Met1005Ile)
NM_000489.6(ATRX):c.3122A>T (p.Asp1041Val)
NM_000489.6(ATRX):c.3266_3274del (p.Arg1089_Lys1091del)
NM_000489.6(ATRX):c.3392G>C (p.Arg1131Thr) rs2071220353
NM_000489.6(ATRX):c.3495_3500del (p.Asn1165_Lys1166del) rs1557137281
NM_000489.6(ATRX):c.3545A>G (p.Lys1182Arg)
NM_000489.6(ATRX):c.3546G>C (p.Lys1182Asn) rs1490780716
NM_000489.6(ATRX):c.3589C>G (p.Gln1197Glu)
NM_000489.6(ATRX):c.3592G>C (p.Ala1198Pro) rs2071202324
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.371-2A>G rs1557148369
NM_000489.6(ATRX):c.3736+61_3736+62del rs45577534
NM_000489.6(ATRX):c.3789C>T (p.Asp1263=) rs2148543032
NM_000489.6(ATRX):c.3933A>G (p.Pro1311=) rs2148496532
NM_000489.6(ATRX):c.3943+3G>T rs781888847
NM_000489.6(ATRX):c.3968A>T (p.Glu1323Val) rs2148489892
NM_000489.6(ATRX):c.3974A>G (p.Asp1325Gly)
NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile) rs1569536694
NM_000489.6(ATRX):c.4035G>C (p.Leu1345Phe)
NM_000489.6(ATRX):c.4120+296C>T rs144831818
NM_000489.6(ATRX):c.4126A>G (p.Ser1376Gly)
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.4318-157dup rs368160215
NM_000489.6(ATRX):c.4321A>C (p.Asn1441His) rs2148440711
NM_000489.6(ATRX):c.4338GGA[1] (p.Glu1448del) rs782410402
NM_000489.6(ATRX):c.4344_4358del (p.Lys1449_Glu1453del) rs1557117436
NM_000489.6(ATRX):c.4353GGA[2] (p.Glu1464del) rs782630348
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del) rs398123423
NM_000489.6(ATRX):c.4365GGA[6] (p.Glu1464dup) rs398123423
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.4582C>A (p.Pro1528Thr) rs2148360412
NM_000489.6(ATRX):c.4620TGAAGA[1] (p.1540DE[1]) rs797045406
NM_000489.6(ATRX):c.467A>G (p.Asn156Ser) rs2148669776
NM_000489.6(ATRX):c.4754C>T (p.Ser1585Phe)
NM_000489.6(ATRX):c.4810-19A>G rs1557106791
NM_000489.6(ATRX):c.4810-37G>T rs781964325
NM_000489.6(ATRX):c.4826A>G (p.His1609Arg) rs122445093
NM_000489.6(ATRX):c.484+57A>C rs782659412
NM_000489.6(ATRX):c.485-7C>G rs1225852818
NM_000489.6(ATRX):c.4865C>T (p.Ala1622Val) rs1135401793
NM_000489.6(ATRX):c.4882C>T (p.Leu1628Phe)
NM_000489.6(ATRX):c.4957-4A>G rs1602979818
NM_000489.6(ATRX):c.5011A>T (p.Arg1671Trp)
NM_000489.6(ATRX):c.5087_5089dup (p.Lys1696dup) rs1557106446
NM_000489.6(ATRX):c.517G>A (p.Ala173Thr) rs1064795090
NM_000489.6(ATRX):c.5212A>G (p.Ile1738Val) rs1057523890
NM_000489.6(ATRX):c.5215C>T (p.Arg1739Ter)
NM_000489.6(ATRX):c.5222G>A (p.Arg1741Lys) rs1448764008
NM_000489.6(ATRX):c.5281A>G (p.Met1761Val) rs2148260943
NM_000489.6(ATRX):c.5287A>G (p.Asn1763Asp)
NM_000489.6(ATRX):c.5342T>C (p.Ile1781Thr) rs2148259855
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_000489.6(ATRX):c.5456A>T (p.Asp1819Val)
NM_000489.6(ATRX):c.5540A>T (p.Tyr1847Phe) rs1057521987
NM_000489.6(ATRX):c.5551T>C (p.Leu1851=) rs2067368640
NM_000489.6(ATRX):c.5566+5A>C rs782212670
NM_000489.6(ATRX):c.5617T>C (p.Phe1873Leu)
NM_000489.6(ATRX):c.5722G>T (p.Asp1908Tyr) rs1057522290
NM_000489.6(ATRX):c.5773G>A (p.Asp1925Asn)
NM_000489.6(ATRX):c.5787-24G>T rs45608236
NM_000489.6(ATRX):c.5787-24GTTT[4] rs782072699
NM_000489.6(ATRX):c.5787-24GTTT[6] rs782072699
NM_000489.6(ATRX):c.595-66G>C rs192917355
NM_000489.6(ATRX):c.5957-1G>A rs886041903
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del) rs782391479
NM_000489.6(ATRX):c.5975C>A (p.Ser1992Tyr)
NM_000489.6(ATRX):c.599G>T (p.Cys200Phe) rs886041700
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)
NM_000489.6(ATRX):c.6147G>A (p.Leu2049=) rs2148090041
NM_000489.6(ATRX):c.6169G>C (p.Ala2057Pro) rs2148089567
NM_000489.6(ATRX):c.6202C>T (p.Pro2068Ser) rs1557079194
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.632G>A (p.Arg211His)
NM_000489.6(ATRX):c.6392G>A (p.Arg2131Gln) rs122445101
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.6532C>T (p.Arg2178Trp) rs1057517707
NM_000489.6(ATRX):c.654A>G (p.Glu218=) rs782378258
NM_000489.6(ATRX):c.663-55T>A rs45565042
NM_000489.6(ATRX):c.668G>A (p.Cys223Tyr) rs1557142844
NM_000489.6(ATRX):c.6733A>C (p.Lys2245Gln)
NM_000489.6(ATRX):c.687G>C (p.Leu229Phe)
NM_000489.6(ATRX):c.6920C>T (p.Pro2307Leu) rs2147749477
NM_000489.6(ATRX):c.6941G>T (p.Gly2314Val)
NM_000489.6(ATRX):c.7024G>A (p.Val2342Met)
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.711T>C (p.Asn237=) rs782710787
NM_000489.6(ATRX):c.7141G>A (p.Glu2381Lys) rs1557041077
NM_000489.6(ATRX):c.7147G>C (p.Asp2383His) rs1057518225
NM_000489.6(ATRX):c.7219C>T (p.Arg2407Ter) rs1557034957
NM_000489.6(ATRX):c.7229T>G (p.Met2410Arg) rs782388992
NM_000489.6(ATRX):c.7233C>T (p.Asn2411=) rs1557034927
NM_000489.6(ATRX):c.7263GCAACA[1] (p.Gln2424_Gln2425del) rs2147651246
NM_000489.6(ATRX):c.729C>G (p.Cys243Trp) rs1057524153
NM_000489.6(ATRX):c.7334T>A (p.Ile2445Asn) rs1057520923
NM_000489.6(ATRX):c.7366_7367del (p.Met2456fs) rs797044723
NM_000489.6(ATRX):c.7368G>A (p.Met2456Ile)
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.6(ATRX):c.7406C>T (p.Pro2469Leu)
NM_000489.6(ATRX):c.763A>C (p.Thr255Pro)
NM_000489.6(ATRX):c.764C>T (p.Thr255Ile)
NM_000489.6(ATRX):c.806A>G (p.His269Arg)
NM_000489.6(ATRX):c.832A>G (p.Thr278Ala) rs2148636896
NM_000489.6(ATRX):c.884AGA[2] (p.Lys297del) rs1064795918

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