ClinVar Miner

List of variants studied for ATR-X-related syndrome by Natera, Inc.

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 167
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.4659T>C (p.His1553=) rs25641 0.05840
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.03016
NM_000489.6(ATRX):c.288A>G (p.Lys96=) rs45574238 0.01127
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.4635C>A (p.Thr1545=) rs148975763 0.00350
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu) rs61758732 0.00137
NM_000489.6(ATRX):c.3281G>A (p.Cys1094Tyr) rs146521598 0.00080
NM_000489.6(ATRX):c.2540T>C (p.Phe847Ser) rs45624939 0.00075
NM_000489.6(ATRX):c.1423C>G (p.His475Asp) rs146863015 0.00050
NM_000489.6(ATRX):c.2923G>A (p.Asp975Asn) rs200709847 0.00049
NM_000489.6(ATRX):c.4120+4A>C rs200420513 0.00046
NM_000489.6(ATRX):c.1825C>G (p.Pro609Ala) rs186742436 0.00024
NM_000489.6(ATRX):c.2650G>A (p.Glu884Lys) rs200343648 0.00013
NM_000489.6(ATRX):c.7256A>G (p.Asn2419Ser) rs781853125 0.00012
NM_000489.6(ATRX):c.820T>C (p.Leu274=) rs146012355 0.00011
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val) rs374244026 0.00010
NM_000489.6(ATRX):c.831C>T (p.Val277=) rs142561199 0.00010
NM_000489.6(ATRX):c.3065G>A (p.Arg1022Gln) rs781811015 0.00009
NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg) rs145678415 0.00008
NM_000489.6(ATRX):c.7435A>G (p.Met2479Val) rs200478641 0.00008
NM_000489.6(ATRX):c.1245C>T (p.Ser415=) rs141815992 0.00007
NM_000489.6(ATRX):c.2118T>A (p.Ser706Arg) rs782598442 0.00007
NM_000489.6(ATRX):c.2806G>C (p.Val936Leu) rs149232501 0.00007
NM_000489.6(ATRX):c.3913A>C (p.Lys1305Gln) rs782708557 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.189G>A (p.Glu63=) rs587778082 0.00006
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu) rs61752457 0.00006
NM_000489.6(ATRX):c.2105A>G (p.Asn702Ser) rs782409603 0.00006
NM_000489.6(ATRX):c.2312C>T (p.Ala771Val) rs376906761 0.00006
NM_000489.6(ATRX):c.2313G>A (p.Ala771=) rs373458498 0.00006
NM_000489.6(ATRX):c.4224G>A (p.Lys1408=) rs781984385 0.00006
NM_000489.6(ATRX):c.4859G>A (p.Ser1620Asn) rs781875880 0.00006
NM_000489.6(ATRX):c.1169G>A (p.Arg390His) rs367986587 0.00005
NM_000489.6(ATRX):c.118A>G (p.Met40Val) rs149990714 0.00005
NM_000489.6(ATRX):c.1645A>G (p.Ser549Gly) rs148513102 0.00005
NM_000489.6(ATRX):c.2133T>G (p.Pro711=) rs782781621 0.00005
NM_000489.6(ATRX):c.2683G>C (p.Val895Leu) rs782529714 0.00005
NM_000489.6(ATRX):c.2697G>A (p.Thr899=) rs137974888 0.00005
NM_000489.6(ATRX):c.2701A>G (p.Ile901Val) rs587778087 0.00005
NM_000489.6(ATRX):c.3622A>G (p.Ile1208Val) rs782257568 0.00005
NM_000489.6(ATRX):c.3794A>G (p.Asn1265Ser) rs371187842 0.00005
NM_000489.6(ATRX):c.3978A>G (p.Ser1326=) rs369658928 0.00005
NM_000489.6(ATRX):c.4710T>C (p.Phe1570=) rs781829081 0.00005
NM_000489.6(ATRX):c.5957-9C>G rs375791318 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.2484G>C (p.Met828Ile) rs782705007 0.00004
NM_000489.6(ATRX):c.2652G>C (p.Glu884Asp) rs782123222 0.00004
NM_000489.6(ATRX):c.2880C>T (p.Gly960=) rs782796279 0.00004
NM_000489.6(ATRX):c.3042T>C (p.Asp1014=) rs140476563 0.00004
NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser) rs782781078 0.00004
NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys) rs369871569 0.00004
NM_000489.6(ATRX):c.1350T>C (p.Cys450=) rs782077373 0.00003
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.2001G>A (p.Pro667=) rs139997330 0.00003
NM_000489.6(ATRX):c.2150C>T (p.Pro717Leu) rs372617572 0.00003
NM_000489.6(ATRX):c.2225G>C (p.Ser742Thr) rs1340328179 0.00003
NM_000489.6(ATRX):c.2696C>T (p.Thr899Met) rs782757975 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.4210A>G (p.Thr1404Ala) rs781835568 0.00003
NM_000489.6(ATRX):c.5073A>G (p.Gln1691=) rs781845474 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.1468G>A (p.Gly490Ser) rs1378005125 0.00002
NM_000489.6(ATRX):c.1474G>A (p.Glu492Lys) rs1418531949 0.00002
NM_000489.6(ATRX):c.1758A>G (p.Leu586=) rs781987630 0.00002
NM_000489.6(ATRX):c.2212C>G (p.Leu738Val) rs782470087 0.00002
NM_000489.6(ATRX):c.3133A>G (p.Lys1045Glu) rs1332447363 0.00002
NM_000489.6(ATRX):c.3285G>T (p.Lys1095Asn) rs1308342676 0.00002
NM_000489.6(ATRX):c.3387G>A (p.Leu1129=) rs3761507 0.00002
NM_000489.6(ATRX):c.3646A>G (p.Ile1216Val) rs782062542 0.00002
NM_000489.6(ATRX):c.3664G>A (p.Asp1222Asn) rs782520515 0.00002
NM_000489.6(ATRX):c.366A>G (p.Pro122=) rs782564172 0.00002
NM_000489.6(ATRX):c.4070A>G (p.Lys1357Arg) rs1064796812 0.00002
NM_000489.6(ATRX):c.4096G>A (p.Val1366Ile) rs1280555560 0.00002
NM_000489.6(ATRX):c.4329G>A (p.Glu1443=) rs782044671 0.00002
NM_000489.6(ATRX):c.1206T>A (p.Ile402=) rs782635950 0.00001
NM_000489.6(ATRX):c.1236C>A (p.Asp412Glu) rs951634317 0.00001
NM_000489.6(ATRX):c.1346C>G (p.Pro449Arg) rs782163488 0.00001
NM_000489.6(ATRX):c.1366G>A (p.Asp456Asn) rs782313786 0.00001
NM_000489.6(ATRX):c.1477C>T (p.His493Tyr) rs1041529012 0.00001
NM_000489.6(ATRX):c.1492A>G (p.Arg498Gly) rs781942266 0.00001
NM_000489.6(ATRX):c.1526C>G (p.Thr509Ser) rs1557141410 0.00001
NM_000489.6(ATRX):c.16A>G (p.Met6Val) rs782080475 0.00001
NM_000489.6(ATRX):c.1709A>G (p.Asn570Ser) rs782517450 0.00001
NM_000489.6(ATRX):c.1733C>G (p.Thr578Ser) rs782715901 0.00001
NM_000489.6(ATRX):c.1885C>G (p.Leu629Val) rs1198114357 0.00001
NM_000489.6(ATRX):c.1960C>G (p.Arg654Gly) rs1557140492 0.00001
NM_000489.6(ATRX):c.2066A>G (p.Gln689Arg) rs929951326 0.00001
NM_000489.6(ATRX):c.2083G>C (p.Val695Leu) rs571313578 0.00001
NM_000489.6(ATRX):c.2348G>C (p.Ser783Thr) rs782530243 0.00001
NM_000489.6(ATRX):c.2472G>C (p.Glu824Asp) rs1557139572 0.00001
NM_000489.6(ATRX):c.2648A>G (p.Gln883Arg) rs587778086 0.00001
NM_000489.6(ATRX):c.2656G>C (p.Glu886Gln) rs782374254 0.00001
NM_000489.6(ATRX):c.2695A>G (p.Thr899Ala) rs2071278709 0.00001
NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln) rs797044792 0.00001
NM_000489.6(ATRX):c.2787G>C (p.Glu929Asp) rs782283059 0.00001
NM_000489.6(ATRX):c.278A>T (p.Asp93Val) rs1064796774 0.00001
NM_000489.6(ATRX):c.2890A>G (p.Ile964Val) rs1271635013 0.00001
NM_000489.6(ATRX):c.3287T>G (p.Leu1096Trp) rs1337990307 0.00001
NM_000489.6(ATRX):c.3306G>A (p.Arg1102=) rs782279780 0.00001
NM_000489.6(ATRX):c.3314A>G (p.Gln1105Arg) rs1569538747 0.00001
NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr) rs587780285 0.00001
NM_000489.6(ATRX):c.3538A>G (p.Ile1180Val) rs782554626 0.00001
NM_000489.6(ATRX):c.3555G>C (p.Lys1185Asn) rs782696086 0.00001
NM_000489.6(ATRX):c.3623T>C (p.Ile1208Thr) rs374291079 0.00001
NM_000489.6(ATRX):c.3655G>A (p.Gly1219Arg) rs1057524797 0.00001
NM_000489.6(ATRX):c.3850C>T (p.Leu1284Phe) rs782619383 0.00001
NM_000489.6(ATRX):c.3885G>A (p.Glu1295=) rs781858736 0.00001
NM_000489.6(ATRX):c.4002A>T (p.Pro1334=) rs782625886 0.00001
NM_000489.6(ATRX):c.4072A>G (p.Thr1358Ala) rs781912326 0.00001
NM_000489.6(ATRX):c.4177G>C (p.Val1393Leu) rs147331649 0.00001
NM_000489.6(ATRX):c.4201C>T (p.Arg1401Trp) rs1557119999 0.00001
NM_000489.6(ATRX):c.4203G>A (p.Arg1401=) rs1399734659 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.5559C>T (p.His1853=) rs1557096973 0.00001
NM_000489.6(ATRX):c.5786+5A>G rs782475014 0.00001
NM_000489.6(ATRX):c.5935G>C (p.Val1979Leu) rs782773652 0.00001
NM_000489.6(ATRX):c.631C>T (p.Arg211Cys) rs782241890 0.00001
NM_000489.6(ATRX):c.672G>A (p.Ala224=) rs782223625 0.00001
NM_000489.6(ATRX):c.7379A>G (p.Tyr2460Cys) rs782169215 0.00001
NM_000489.6(ATRX):c.847G>A (p.Val283Ile) rs1057522580 0.00001
NM_000489.6(ATRX):c.1057A>G (p.Ile353Val) rs2071424254
NM_000489.6(ATRX):c.1075C>G (p.Leu359Val) rs2071423786
NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn) rs2071413817
NM_000489.6(ATRX):c.1264G>A (p.Ala422Thr) rs1424850007
NM_000489.6(ATRX):c.1322_1324del (p.Thr441del) rs1569539303
NM_000489.6(ATRX):c.1509A>G (p.Gln503=) rs1039587651
NM_000489.6(ATRX):c.1827A>G (p.Pro609=) rs1603222884
NM_000489.6(ATRX):c.1842C>T (p.Gly614=) rs2071364653
NM_000489.6(ATRX):c.1846A>G (p.Lys616Glu) rs2071363928
NM_000489.6(ATRX):c.189+5G>A rs2072317981
NM_000489.6(ATRX):c.1910A>G (p.Glu637Gly) rs2071360128
NM_000489.6(ATRX):c.1938A>G (p.Leu646=) rs2148611303
NM_000489.6(ATRX):c.1955A>T (p.Asp652Val) rs2071357500
NM_000489.6(ATRX):c.1A>G (p.Met1Val) rs2076735328
NM_000489.6(ATRX):c.2200A>G (p.Met734Val) rs2071339556
NM_000489.6(ATRX):c.2262T>G (p.Ile754Met) rs1557140015
NM_000489.6(ATRX):c.2592G>T (p.Gly864=) rs782526944
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.6(ATRX):c.2633A>G (p.Asp878Gly) rs2071285505
NM_000489.6(ATRX):c.2686G>C (p.Asp896His) rs2071279824
NM_000489.6(ATRX):c.2830_2832del (p.Glu944del) rs1338172022
NM_000489.6(ATRX):c.2870T>C (p.Val957Ala) rs2148587031
NM_000489.6(ATRX):c.2906T>C (p.Leu969Pro) rs2071260958
NM_000489.6(ATRX):c.3170A>T (p.Lys1057Met) rs2071238285
NM_000489.6(ATRX):c.3200C>T (p.Ser1067Leu) rs2071236443
NM_000489.6(ATRX):c.3417T>C (p.Asn1139=) rs1603216127
NM_000489.6(ATRX):c.39A>G (p.Thr13=) rs1244422748
NM_000489.6(ATRX):c.4318-10A>C rs781946372
NM_000489.6(ATRX):c.4332AGA[1] (p.Glu1448del) rs1356648720
NM_000489.6(ATRX):c.4344_4358del (p.Lys1449_Glu1453del) rs1557117436
NM_000489.6(ATRX):c.4347AGA[1] (p.Glu1464del) rs587780288
NM_000489.6(ATRX):c.4660A>G (p.Arg1554Gly) rs2068328911
NM_000489.6(ATRX):c.5566+5A>C rs782212670
NM_000489.6(ATRX):c.5787-24GTTT[4] rs782072699
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del) rs782391479
NM_000489.6(ATRX):c.649G>A (p.Asp217Asn) rs2071472042
NM_000489.6(ATRX):c.6699+10T>C rs1602531185
NM_000489.6(ATRX):c.711T>C (p.Asn237=) rs782710787
NM_000489.6(ATRX):c.7200+10C>G rs781824017
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105

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