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: 401
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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 0.48576
NM_000489.6(ATRX):c.595-36= rs35268552 0.48360
NM_000489.6(ATRX):c.6110+226= rs3027544 0.46359
NM_000489.6(ATRX):c.4659T>C (p.His1553=) rs25641 0.05840
NM_000489.6(ATRX):c.6218-297A>G rs3027539 0.05496
NM_000489.6(ATRX):c.4214+236C>T rs34060420 0.05131
NM_000489.6(ATRX):c.6217+244G>A rs45526440 0.03735
NM_000489.6(ATRX):c.4121-248A>G rs3761508 0.03537
NM_000489.6(ATRX):c.3944-266C>T rs112759632 0.02932
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.02794
NM_000489.6(ATRX):c.6110+81C>T rs45612438 0.02559
NM_000489.6(ATRX):c.4317+301C>T rs148638497 0.02369
NM_000489.6(ATRX):c.6975+146C>T rs45509291 0.01881
NM_000489.6(ATRX):c.6111-146A>G rs45503998 0.01587
NM_000489.6(ATRX):c.4557+33G>A rs5912716 0.01177
NM_000489.6(ATRX):c.288A>G (p.Lys96=) rs45574238 0.01139
NM_000489.6(ATRX):c.243-97G>C rs41307399 0.01072
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 0.00793
NM_000489.6(ATRX):c.*213C>T rs3027524 0.00674
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00640
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 0.00436
NM_000489.6(ATRX):c.4318-167C>T rs186123317 0.00409
NM_000489.6(ATRX):c.6976-202A>C rs3027526 0.00381
NM_000489.6(ATRX):c.3809+60A>C rs185436258 0.00351
NM_000489.6(ATRX):c.4635C>A (p.Thr1545=) rs148975763 0.00332
NM_000489.6(ATRX):c.3810-171T>C rs183973145 0.00309
NM_000489.6(ATRX):c.6110+132G>C rs45567835 0.00297
NM_000489.6(ATRX):c.6849+31G>T rs184484318 0.00273
NM_000489.6(ATRX):c.134-304G>A rs782268751 0.00183
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 0.00103
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.5349A>G (p.Pro1783=) rs149960511 0.00055
NM_000489.6(ATRX):c.6850-31T>A rs370958666 0.00052
NM_000489.6(ATRX):c.2531C>A (p.Thr844Lys) rs139131007 0.00051
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.2000C>T (p.Pro667Leu) rs61752457 0.00037
NM_000489.6(ATRX):c.3641A>T (p.Asn1214Ile) rs144527582 0.00037
NM_000489.6(ATRX):c.1825C>G (p.Pro609Ala) rs186742436 0.00035
NM_000489.6(ATRX):c.1303A>G (p.Ile435Val) rs371580333 0.00026
NM_000489.6(ATRX):c.2680A>C (p.Thr894Pro) rs145807475 0.00025
NM_000489.6(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002 0.00025
NM_000489.6(ATRX):c.6405C>T (p.Phe2135=) rs148659669 0.00023
NM_000489.6(ATRX):c.1467C>T (p.Thr489=) rs199929884 0.00021
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.1256C>T (p.Ala419Val) rs374958282 0.00010
NM_000489.6(ATRX):c.3880G>C (p.Asp1294His) rs782386546 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.4214+6A>G rs782562759 0.00009
NM_000489.6(ATRX):c.570T>G (p.Pro190=) rs188831993 0.00009
NM_000489.6(ATRX):c.595-43T>C rs782072325 0.00009
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val) rs374244026 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.1168C>T (p.Arg390Cys) rs150484080 0.00007
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301 0.00007
NM_000489.6(ATRX):c.4810-37G>T rs781964325 0.00007
NM_000489.6(ATRX):c.6218-34A>C rs781888261 0.00007
NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr) rs149249195 0.00006
NM_000489.6(ATRX):c.1077G>T (p.Leu359=) rs782504858 0.00006
NM_000489.6(ATRX):c.1245C>T (p.Ser415=) rs141815992 0.00006
NM_000489.6(ATRX):c.2312C>T (p.Ala771Val) rs376906761 0.00006
NM_000489.6(ATRX):c.2423G>A (p.Arg808Gln) rs782181535 0.00006
NM_000489.6(ATRX):c.3218G>C (p.Ser1073Thr) rs781825074 0.00006
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.2652G>C (p.Glu884Asp) rs782123222 0.00005
NM_000489.6(ATRX):c.2701A>G (p.Ile901Val) rs587778087 0.00005
NM_000489.6(ATRX):c.3122A>T (p.Asp1041Val) rs1412505197 0.00005
NM_000489.6(ATRX):c.4859G>A (p.Ser1620Asn) rs781875880 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.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.1257G>A (p.Ala419=) rs185550133 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.3907A>G (p.Thr1303Ala) rs781836912 0.00003
NM_000489.6(ATRX):c.4070A>G (p.Lys1357Arg) rs1064796812 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.6630T>C (p.Phe2210=) rs147169853 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.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.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.631C>T (p.Arg211Cys) rs782241890 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.1043T>C (p.Val348Ala) rs975407914 0.00001
NM_000489.6(ATRX):c.1150A>C (p.Ser384Arg) rs782196033 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.1817A>G (p.Gln606Arg) rs1557140723 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.2209A>G (p.Ile737Val) rs782110483 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.2648A>G (p.Gln883Arg) rs587778086 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.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.4081A>G (p.Lys1361Glu) rs1886161029 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.485-7C>G rs1225852818 0.00001
NM_000489.6(ATRX):c.4862C>T (p.Thr1621Met) rs122445106 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.5222G>A (p.Arg1741Lys) rs1448764008 0.00001
NM_000489.6(ATRX):c.5551T>C (p.Leu1851=) rs2067368640 0.00001
NM_000489.6(ATRX):c.5787-21T>C rs781885349 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.6327-35T>A rs782050372 0.00001
NM_000489.6(ATRX):c.632G>A (p.Arg211His) rs2520035504 0.00001
NM_000489.6(ATRX):c.7044A>G (p.Gln2348=) rs375935735 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) rs2148632640
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
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.134-9C>T rs782350220
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.1738del (p.Ala580fs) rs886039493
NM_000489.6(ATRX):c.1753G>T (p.Glu585Ter) rs886044898
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.2241TTC[2] (p.Ser750del) rs1297294136
NM_000489.6(ATRX):c.2282A>G (p.His761Arg) rs782493929
NM_000489.6(ATRX):c.2312C>A (p.Ala771Glu) rs376906761
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.2342G>A (p.Arg781Gln) rs1603220762
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.2595C>G (p.His865Gln) rs61752455
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.264G>A (p.Lys88=) rs782056075
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.2777G>A (p.Gly926Glu) rs2071271385
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.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.3853T>C (p.Ser1285Pro) rs2148498031
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) 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.4120+296C>T rs144831818
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.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.4392A>C (p.Glu1464Asp) rs782637572
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.4550T>C (p.Leu1517Ser)
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) rs2148350101
NM_000489.6(ATRX):c.4808A>T (p.Gln1603Leu)
NM_000489.6(ATRX):c.4810-19A>G rs1557106791
NM_000489.6(ATRX):c.4826A>G (p.His1609Arg) rs122445093
NM_000489.6(ATRX):c.484+57A>C rs782659412
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.517G>A (p.Ala173Thr) rs1064795090
NM_000489.6(ATRX):c.5210C>A (p.Ser1737Tyr)
NM_000489.6(ATRX):c.5212A>G (p.Ile1738Val) rs1057523890
NM_000489.6(ATRX):c.5215C>T (p.Arg1739Ter) rs2148270367
NM_000489.6(ATRX):c.5275C>A (p.His1759Asn)
NM_000489.6(ATRX):c.5281A>G (p.Met1761Val) rs2148260943
NM_000489.6(ATRX):c.5287A>G (p.Asn1763Asp) rs2148260821
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.5393G>T (p.Arg1798Ile)
NM_000489.6(ATRX):c.5456A>T (p.Asp1819Val) rs2522020543
NM_000489.6(ATRX):c.5540A>T (p.Tyr1847Phe) rs1057521987
NM_000489.6(ATRX):c.5566+5A>C rs782212670
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.569C>T (p.Pro190Leu) rs1057518708
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.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.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.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) rs2521524090
NM_000489.6(ATRX):c.599G>T (p.Cys200Phe) rs886041700
NM_000489.6(ATRX):c.6019A>G (p.Thr2007Ala)
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.6134T>C (p.Ile2045Thr)
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.6253C>T (p.Arg2085Cys) rs2148019913
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His) rs1057517948
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.650A>T (p.Asp217Val)
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.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.668G>A (p.Cys223Tyr) rs1557142844
NM_000489.6(ATRX):c.6733A>C (p.Lys2245Gln) rs2520040871
NM_000489.6(ATRX):c.6800C>T (p.Thr2267Ile)
NM_000489.6(ATRX):c.687G>C (p.Leu229Phe) rs2148640122
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.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.7204dup (p.Ile2402fs)
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.733C>G (p.Leu245Val) rs2071444982
NM_000489.6(ATRX):c.7366_7367del (p.Met2456fs) rs797044723
NM_000489.6(ATRX):c.7368G>A (p.Met2456Ile) rs2147648172
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.6(ATRX):c.7406C>T (p.Pro2469Leu) rs782445691
NM_000489.6(ATRX):c.7408C>T (p.Pro2470Ser)
NM_000489.6(ATRX):c.740A>G (p.Asn247Ser) rs797044865
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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