ClinVar Miner

List of variants studied for alpha-thalassemia-related diseases by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 247
Download table as spreadsheet
HGVS dbSNP
NC_000023.10:g.(?_76763809)_(76972740_?)dup
NC_000023.10:g.(?_76944291)_(76972740_?)del
NC_000023.10:g.(?_77041448)_(77041507_?)dup
NM_000489.5(ATRX):c.1004G>C (p.Cys335Ser) rs782395663
NM_000489.5(ATRX):c.1032C>T (p.Ser344=) rs143491422
NM_000489.5(ATRX):c.1033G>A (p.Ala345Thr) rs149249195
NM_000489.5(ATRX):c.1041T>G (p.Ile347Met) rs199780997
NM_000489.5(ATRX):c.1047C>G (p.Pro349=) rs200288042
NM_000489.5(ATRX):c.1077G>T (p.Leu359=) rs782504858
NM_000489.5(ATRX):c.1111G>C (p.Val371Leu) rs782128117
NM_000489.5(ATRX):c.1130C>T (p.Ala377Val) rs781955237
NM_000489.5(ATRX):c.1159A>G (p.Thr387Ala) rs1603225916
NM_000489.5(ATRX):c.1168C>T (p.Arg390Cys) rs150484080
NM_000489.5(ATRX):c.1245C>T (p.Ser415=) rs141815992
NM_000489.5(ATRX):c.1256C>T (p.Ala419Val) rs374958282
NM_000489.5(ATRX):c.1257G>A (p.Ala419=) rs185550133
NM_000489.5(ATRX):c.1264G>A (p.Ala422Thr) rs1424850007
NM_000489.5(ATRX):c.12G>A (p.Glu4=) rs782765957
NM_000489.5(ATRX):c.1303A>G (p.Ile435Val) rs371580333
NM_000489.5(ATRX):c.1322_1324del (p.Thr441del) rs1569539303
NM_000489.5(ATRX):c.1423C>G (p.His475Asp) rs146863015
NM_000489.5(ATRX):c.1446A>C (p.Glu482Asp) rs886044778
NM_000489.5(ATRX):c.1448A>C (p.Gln483Pro) rs781820428
NM_000489.5(ATRX):c.1467C>T (p.Thr489=) rs199929884
NM_000489.5(ATRX):c.1509A>G (p.Gln503=) rs1039587651
NM_000489.5(ATRX):c.1606A>G (p.Met536Val) rs781865069
NM_000489.5(ATRX):c.1625T>C (p.Val542Ala) rs782158232
NM_000489.5(ATRX):c.1633C>G (p.Gln545Glu) rs35738915
NM_000489.5(ATRX):c.1645A>G (p.Ser549Gly) rs148513102
NM_000489.5(ATRX):c.1674T>A (p.Ser558Arg) rs1569539199
NM_000489.5(ATRX):c.167T>A (p.Met56Lys) rs782553856
NM_000489.5(ATRX):c.16A>G (p.Met6Val) rs782080475
NM_000489.5(ATRX):c.1781C>G (p.Ser594Cys) rs782774889
NM_000489.5(ATRX):c.1798A>G (p.Ile600Val) rs375129029
NM_000489.5(ATRX):c.1825C>G (p.Pro609Ala) rs186742436
NM_000489.5(ATRX):c.1827A>G (p.Pro609=) rs1603222884
NM_000489.5(ATRX):c.1868A>G (p.Lys623Arg) rs145678415
NM_000489.5(ATRX):c.1878A>G (p.Lys626=) rs1557140595
NM_000489.5(ATRX):c.189+7A>G rs781842591
NM_000489.5(ATRX):c.189G>A (p.Glu63=) rs587778082
NM_000489.5(ATRX):c.1960C>G (p.Arg654Gly) rs1557140492
NM_000489.5(ATRX):c.1974T>G (p.Arg658=) rs1603222314
NM_000489.5(ATRX):c.2000C>T (p.Pro667Leu) rs61752457
NM_000489.5(ATRX):c.2001G>A (p.Pro667=) rs139997330
NM_000489.5(ATRX):c.2064A>G (p.Lys688=) rs781991929
NM_000489.5(ATRX):c.2105A>G (p.Asn702Ser) rs782409603
NM_000489.5(ATRX):c.2118T>A (p.Ser706Arg) rs782598442
NM_000489.5(ATRX):c.2169G>C (p.Glu723Asp) rs61752456
NM_000489.5(ATRX):c.2224A>G (p.Ser742Gly) rs368980616
NM_000489.5(ATRX):c.2225G>C (p.Ser742Thr) rs1340328179
NM_000489.5(ATRX):c.222A>G (p.Ser74=) rs782427200
NM_000489.5(ATRX):c.2241_2243TTC[2] (p.Ser750del) rs1297294136
NM_000489.5(ATRX):c.2262T>G (p.Ile754Met) rs1557140015
NM_000489.5(ATRX):c.228G>A (p.Ser76=) rs5959371
NM_000489.5(ATRX):c.2292G>C (p.Leu764Phe) rs1557139933
NM_000489.5(ATRX):c.2304G>C (p.Lys768Asn) rs1557139920
NM_000489.5(ATRX):c.2316G>T (p.Gly772=) rs1187990991
NM_000489.5(ATRX):c.2388A>C (p.Lys796Asn) rs1603220590
NM_000489.5(ATRX):c.2423G>A (p.Arg808Gln) rs782181535
NM_000489.5(ATRX):c.243-4A>T rs782131289
NM_000489.5(ATRX):c.2457A>G (p.Ser819=) rs1051441832
NM_000489.5(ATRX):c.2461_2466del (p.Leu821_Glu822del) rs781862926
NM_000489.5(ATRX):c.2472G>C (p.Glu824Asp) rs1557139572
NM_000489.5(ATRX):c.2484G>C (p.Met828Ile) rs782705007
NM_000489.5(ATRX):c.2492T>C (p.Ile831Thr) rs1603220048
NM_000489.5(ATRX):c.2494G>A (p.Gly832Ser) rs1557139497
NM_000489.5(ATRX):c.2507C>A (p.Thr836Asn) rs1603219919
NM_000489.5(ATRX):c.2524C>T (p.Pro842Ser) rs782196312
NM_000489.5(ATRX):c.2531C>A (p.Thr844Lys) rs139131007
NM_000489.5(ATRX):c.2540T>C (p.Phe847Ser) rs45624939
NM_000489.5(ATRX):c.2581G>A (p.Asp861Asn) rs782629714
NM_000489.5(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.5(ATRX):c.2615A>T (p.Gln872Leu) rs782162927
NM_000489.5(ATRX):c.2648A>G (p.Gln883Arg) rs587778086
NM_000489.5(ATRX):c.2650G>A (p.Glu884Lys) rs200343648
NM_000489.5(ATRX):c.2658G>C (p.Glu886Asp) rs141180098
NM_000489.5(ATRX):c.2674G>A (p.Glu892Lys) rs1603218994
NM_000489.5(ATRX):c.2680A>C (p.Thr894Pro) rs145807475
NM_000489.5(ATRX):c.2696C>T (p.Thr899Met) rs782757975
NM_000489.5(ATRX):c.2697G>A (p.Thr899=) rs137974888
NM_000489.5(ATRX):c.2701A>G (p.Ile901Val) rs587778087
NM_000489.5(ATRX):c.2720G>A (p.Arg907Gln) rs143413618
NM_000489.5(ATRX):c.2730G>C (p.Lys910Asn) rs1206627354
NM_000489.5(ATRX):c.2752A>G (p.Thr918Ala) rs1603218619
NM_000489.5(ATRX):c.2763C>T (p.Val921=) rs782004945
NM_000489.5(ATRX):c.2770C>A (p.Leu924Ile) rs1569538903
NM_000489.5(ATRX):c.2785G>C (p.Glu929Gln) rs3088074
NM_000489.5(ATRX):c.2794A>G (p.Thr932Ala) rs1557138839
NM_000489.5(ATRX):c.2806G>C (p.Val936Leu) rs149232501
NM_000489.5(ATRX):c.2859A>G (p.Thr953=) rs782180867
NM_000489.5(ATRX):c.2875G>T (p.Asp959Tyr) rs1057523431
NM_000489.5(ATRX):c.2880C>T (p.Gly960=) rs782796279
NM_000489.5(ATRX):c.288A>G (p.Lys96=) rs45574238
NM_000489.5(ATRX):c.2890A>G (p.Ile964Val) rs1271635013
NM_000489.5(ATRX):c.2923G>A (p.Asp975Asn) rs200709847
NM_000489.5(ATRX):c.2968G>A (p.Glu990Lys) rs376883807
NM_000489.5(ATRX):c.2970A>G (p.Glu990=) rs782253066
NM_000489.5(ATRX):c.3030A>G (p.Glu1010=) rs781816426
NM_000489.5(ATRX):c.3042T>C (p.Asp1014=) rs140476563
NM_000489.5(ATRX):c.3091G>A (p.Gly1031Ser) rs782781078
NM_000489.5(ATRX):c.3210A>G (p.Lys1070=) rs782634074
NM_000489.5(ATRX):c.3211G>A (p.Gly1071Arg) rs143621153
NM_000489.5(ATRX):c.3218G>C (p.Ser1073Thr) rs781825074
NM_000489.5(ATRX):c.3228T>A (p.Ser1076=) rs1205167045
NM_000489.5(ATRX):c.3281G>A (p.Cys1094Tyr) rs146521598
NM_000489.5(ATRX):c.3306G>A (p.Arg1102=) rs782279780
NM_000489.5(ATRX):c.3349A>G (p.Met1117Val) rs1569538741
NM_000489.5(ATRX):c.3395T>C (p.Ile1132Thr) rs587780285
NM_000489.5(ATRX):c.3417T>C (p.Asn1139=) rs1603216127
NM_000489.5(ATRX):c.3462A>G (p.Ser1154=) rs782121260
NM_000489.5(ATRX):c.3498_3500del (p.Lys1169del) rs782695846
NM_000489.5(ATRX):c.3505A>C (p.Lys1169Gln) rs1225665090
NM_000489.5(ATRX):c.3527A>T (p.Lys1176Met) rs191563592
NM_000489.5(ATRX):c.3537C>T (p.Val1179=) rs782800250
NM_000489.5(ATRX):c.3538A>G (p.Ile1180Val) rs782554626
NM_000489.5(ATRX):c.3541G>C (p.Val1181Leu) rs61758732
NM_000489.5(ATRX):c.3546G>C (p.Lys1182Asn) rs1490780716
NM_000489.5(ATRX):c.3559A>G (p.Asn1187Asp) rs782146598
NM_000489.5(ATRX):c.357G>C (p.Gln119His) rs959739617
NM_000489.5(ATRX):c.3641A>T (p.Asn1214Ile) rs144527582
NM_000489.5(ATRX):c.3646A>G (p.Ile1216Val) rs782062542
NM_000489.5(ATRX):c.3663C>T (p.Ser1221=) rs1214349616
NM_000489.5(ATRX):c.3664G>A (p.Asp1222Asn) rs782520515
NM_000489.5(ATRX):c.371-4C>G rs1603240656
NM_000489.5(ATRX):c.3786T>C (p.Asp1262=) rs782113542
NM_000489.5(ATRX):c.3801T>C (p.Pro1267=) rs149717199
NM_000489.5(ATRX):c.3880G>C (p.Asp1294His) rs782386546
NM_000489.5(ATRX):c.3913A>C (p.Lys1305Gln) rs782708557
NM_000489.5(ATRX):c.3978A>G (p.Ser1326=) rs369658928
NM_000489.5(ATRX):c.3987A>G (p.Glu1329=) rs147160114
NM_000489.5(ATRX):c.4004G>T (p.Arg1335Ile) rs1569536694
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.4096G>A (p.Val1366Ile) rs1280555560
NM_000489.5(ATRX):c.4120+4A>C rs200420513
NM_000489.5(ATRX):c.4177G>C (p.Val1393Leu) rs147331649
NM_000489.5(ATRX):c.4203G>A (p.Arg1401=) rs1399734659
NM_000489.5(ATRX):c.4210A>G (p.Thr1404Ala) rs781835568
NM_000489.5(ATRX):c.4214+6A>G rs782562759
NM_000489.5(ATRX):c.4215-5G>A rs111833322
NM_000489.5(ATRX):c.4224G>A (p.Lys1408=) rs781984385
NM_000489.5(ATRX):c.4227_4230delinsT (p.Lys1409_Ala1410delinsAsn) rs1603095546
NM_000489.5(ATRX):c.4233G>T (p.Glu1411Asp) rs1557118780
NM_000489.5(ATRX):c.4239A>G (p.Glu1413=) rs141974120
NM_000489.5(ATRX):c.4329G>A (p.Glu1443=) rs782044671
NM_000489.5(ATRX):c.4332_4334AGA[1] (p.Glu1448del) rs1356648720
NM_000489.5(ATRX):c.4344_4358del (p.Lys1449_Glu1453del) rs1557117436
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.4365_4367GGA[4] (p.Glu1464del) rs398123423
NM_000489.5(ATRX):c.4366G>A (p.Glu1456Lys) rs782646619
NM_000489.5(ATRX):c.4368G>A (p.Glu1456=) rs1557117399
NM_000489.5(ATRX):c.4422A>C (p.Gly1474=) rs1603084380
NM_000489.5(ATRX):c.4620_4625TGAAGA[1] (p.1540_1541DE[1]) rs797045406
NM_000489.5(ATRX):c.4635C>A (p.Thr1545=) rs148975763
NM_000489.5(ATRX):c.4659T>C (p.His1553=) rs25641
NM_000489.5(ATRX):c.4710T>C (p.Phe1570=) rs781829081
NM_000489.5(ATRX):c.480C>T (p.Arg160=) rs1422750101
NM_000489.5(ATRX):c.4810-3T>C rs370596323
NM_000489.5(ATRX):c.4859G>A (p.Ser1620Asn) rs781875880
NM_000489.5(ATRX):c.4863G>A (p.Thr1621=) rs782108010
NM_000489.5(ATRX):c.5073A>G (p.Gln1691=) rs781845474
NM_000489.5(ATRX):c.5221A>C (p.Arg1741=) rs782633224
NM_000489.5(ATRX):c.5349A>G (p.Pro1783=) rs149960511
NM_000489.5(ATRX):c.5406A>G (p.Lys1802=) rs1200376246
NM_000489.5(ATRX):c.546A>G (p.Gln182=) rs375794120
NM_000489.5(ATRX):c.5484T>C (p.Pro1828=) rs782803109
NM_000489.5(ATRX):c.5493C>T (p.His1831=) rs782508028
NM_000489.5(ATRX):c.5536C>T (p.Leu1846Phe) rs1557097008
NM_000489.5(ATRX):c.5559C>T (p.His1853=) rs1557096973
NM_000489.5(ATRX):c.5565A>G (p.Thr1855=) rs1557096967
NM_000489.5(ATRX):c.5566+5A>C rs782212670
NM_000489.5(ATRX):c.5573G>A (p.Gly1858Asp) rs1602739123
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.5(ATRX):c.567C>T (p.His189=) rs1603233545
NM_000489.5(ATRX):c.5698-15dup rs781820607
NM_000489.5(ATRX):c.5698-7del rs781820607
NM_000489.5(ATRX):c.570T>G (p.Pro190=) rs188831993
NM_000489.5(ATRX):c.5787-24GTTT[4] rs782072699
NM_000489.5(ATRX):c.5799A>G (p.Lys1933=) rs1557085918
NM_000489.5(ATRX):c.5935G>C (p.Val1979Leu) rs782773652
NM_000489.5(ATRX):c.5957-9C>G rs375791318
NM_000489.5(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002
NM_000489.5(ATRX):c.6024T>C (p.Asp2008=) rs782159753
NM_000489.5(ATRX):c.6036G>A (p.Glu2012=) rs376679217
NM_000489.5(ATRX):c.6379G>A (p.Val2127Ile) rs1602536860
NM_000489.5(ATRX):c.6405C>T (p.Phe2135=) rs148659669
NM_000489.5(ATRX):c.6484G>A (p.Val2162Ile) rs1569523175
NM_000489.5(ATRX):c.6505-8T>C rs782548527
NM_000489.5(ATRX):c.654A>G (p.Glu218=) rs782378258
NM_000489.5(ATRX):c.6730C>T (p.His2244Tyr) rs1569515985
NM_000489.5(ATRX):c.6869A>G (p.Asn2290Ser) rs368498507
NM_000489.5(ATRX):c.6871A>G (p.Ile2291Val) rs374244026
NM_000489.5(ATRX):c.6873A>G (p.Ile2291Met) rs192057045
NM_000489.5(ATRX):c.6927T>A (p.Ile2309=) rs1557041797
NM_000489.5(ATRX):c.6978C>A (p.Asp2326Glu) rs1569515631
NM_000489.5(ATRX):c.7044A>G (p.Gln2348=) rs375935735
NM_000489.5(ATRX):c.7083C>T (p.Asn2361=) rs3027525
NM_000489.5(ATRX):c.711T>C (p.Asn237=) rs782710787
NM_000489.5(ATRX):c.7201-4A>G rs782317502
NM_000489.5(ATRX):c.7254C>T (p.Tyr2418=) rs782527659
NM_000489.5(ATRX):c.7256A>G (p.Asn2419Ser) rs781853125
NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.5(ATRX):c.7379A>G (p.Tyr2460Cys) rs782169215
NM_000489.5(ATRX):c.737G>T (p.Arg246Leu) rs1603226766
NM_000489.5(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136
NM_000489.5(ATRX):c.7435A>G (p.Met2479Val) rs200478641
NM_000489.5(ATRX):c.798C>T (p.Tyr266=) rs376341197
NM_000489.5(ATRX):c.820T>C (p.Leu274=) rs146012355
NM_000489.5(ATRX):c.829G>C (p.Val277Leu) rs1569539465
NM_000489.5(ATRX):c.831C>T (p.Val277=) rs142561199
NM_000489.5(ATRX):c.846C>T (p.Ser282=) rs148015780
NM_000489.5(ATRX):c.913A>G (p.Ser305Gly) rs782778928
NM_000489.5(ATRX):c.983A>G (p.Glu328Gly) rs1557142526
NM_000489.6(ATRX):c.1039A>G (p.Ile347Val)
NM_000489.6(ATRX):c.1042G>T (p.Val348Leu)
NM_000489.6(ATRX):c.1297A>G (p.Lys433Glu)
NM_000489.6(ATRX):c.1412G>T (p.Ser471Ile)
NM_000489.6(ATRX):c.1516C>T (p.Pro506Ser)
NM_000489.6(ATRX):c.1529C>G (p.Ser510Cys)
NM_000489.6(ATRX):c.1727C>A (p.Ser576Ter)
NM_000489.6(ATRX):c.180C>T (p.Ser60=)
NM_000489.6(ATRX):c.1880G>A (p.Cys627Tyr)
NM_000489.6(ATRX):c.18G>A (p.Met6Ile)
NM_000489.6(ATRX):c.2200A>G (p.Met734Val)
NM_000489.6(ATRX):c.2348G>C (p.Ser783Thr)
NM_000489.6(ATRX):c.253A>G (p.Ile85Val)
NM_000489.6(ATRX):c.2657A>G (p.Glu886Gly)
NM_000489.6(ATRX):c.2686G>C (p.Asp896His)
NM_000489.6(ATRX):c.2695A>G (p.Thr899Ala)
NM_000489.6(ATRX):c.2962G>A (p.Gly988Arg)
NM_000489.6(ATRX):c.3200C>T (p.Ser1067Leu)
NM_000489.6(ATRX):c.3336T>A (p.Thr1112=)
NM_000489.6(ATRX):c.3437C>A (p.Thr1146Asn)
NM_000489.6(ATRX):c.3504G>C (p.Lys1168Asn)
NM_000489.6(ATRX):c.370+5T>C
NM_000489.6(ATRX):c.3884A>G (p.Glu1295Gly)
NM_000489.6(ATRX):c.4072A>G (p.Thr1358Ala)
NM_000489.6(ATRX):c.4116_4119del (p.Arg1372_Lys1373insTer)
NM_000489.6(ATRX):c.448A>G (p.Ser150Gly)
NM_000489.6(ATRX):c.4660A>G (p.Arg1554Gly)
NM_000489.6(ATRX):c.5751A>T (p.Glu1917Asp)
NM_000489.6(ATRX):c.5957G>A (p.Ser1986Asn)
NM_000489.6(ATRX):c.6223G>A (p.Gly2075Arg)
NM_000489.6(ATRX):c.70C>T (p.His24Tyr)
NM_138270.4(ATRX):c.5854_5856TCT[2] (p.Ser1954del) rs782391479

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.