ClinVar Miner

List of variants studied for alpha-thalassemia-related diseases

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 132
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HGVS dbSNP
ATRX, IVSAS, T-A, -10
NC_000023.10:g.(?_76763809)_(76972740_?)dup
NC_000023.10:g.(?_76944291)_(76972740_?)del
NM_000489.5(ATRX):c.1004G>C (p.Cys335Ser)
NM_000489.5(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.5(ATRX):c.1111G>C (p.Val371Leu)
NM_000489.5(ATRX):c.1130C>T (p.Ala377Val)
NM_000489.5(ATRX):c.1159A>G (p.Thr387Ala)
NM_000489.5(ATRX):c.1264G>A (p.Ala422Thr)
NM_000489.5(ATRX):c.1322_1324del (p.Thr441del) rs1569539303
NM_000489.5(ATRX):c.1509A>G (p.Gln503=) rs1039587651
NM_000489.5(ATRX):c.1645A>G (p.Ser549Gly)
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)
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.1878A>G (p.Lys626=) rs1557140595
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.20+1G>A rs587776756
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.2225G>C (p.Ser742Thr)
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.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.236C>G (p.Ser79Ter) rs122445107
NM_000489.5(ATRX):c.2388A>C (p.Lys796Asn)
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)
NM_000489.5(ATRX):c.2494G>A (p.Gly832Ser)
NM_000489.5(ATRX):c.2507C>A (p.Thr836Asn)
NM_000489.5(ATRX):c.2581G>A (p.Asp861Asn) rs782629714
NM_000489.5(ATRX):c.2615A>T (p.Gln872Leu) rs782162927
NM_000489.5(ATRX):c.2658G>C (p.Glu886Asp)
NM_000489.5(ATRX):c.2674G>A (p.Glu892Lys)
NM_000489.5(ATRX):c.2696C>T (p.Thr899Met) rs782757975
NM_000489.5(ATRX):c.2730G>C (p.Lys910Asn) rs1206627354
NM_000489.5(ATRX):c.2752A>G (p.Thr918Ala)
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.2794A>G (p.Thr932Ala) rs1557138839
NM_000489.5(ATRX):c.2875G>T (p.Asp959Tyr) rs1057523431
NM_000489.5(ATRX):c.288A>G (p.Lys96=) rs45574238
NM_000489.5(ATRX):c.2890A>G (p.Ile964Val)
NM_000489.5(ATRX):c.2968G>A (p.Glu990Lys) rs376883807
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.3228T>A (p.Ser1076=) rs1205167045
NM_000489.5(ATRX):c.3349A>G (p.Met1117Val) rs1569538741
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.3538A>G (p.Ile1180Val) rs782554626
NM_000489.5(ATRX):c.3546G>C (p.Lys1182Asn) rs1490780716
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.3664G>A (p.Asp1222Asn) rs782520515
NM_000489.5(ATRX):c.371-4C>G
NM_000489.5(ATRX):c.3801T>C (p.Pro1267=) rs149717199
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.4177G>C (p.Val1393Leu) rs147331649
NM_000489.5(ATRX):c.4210A>G (p.Thr1404Ala) rs781835568
NM_000489.5(ATRX):c.4227_4230delinsT (p.Lys1409_Ala1410delinsAsn)
NM_000489.5(ATRX):c.4233G>T (p.Glu1411Asp)
NM_000489.5(ATRX):c.4317G>A (p.Lys1439=) rs1569535642
NM_000489.5(ATRX):c.4332_4334AGA[1] (p.Glu1448del)
NM_000489.5(ATRX):c.4344_4358del (p.Lys1449_Glu1453del)
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.4366G>A (p.Glu1456Lys) rs782646619
NM_000489.5(ATRX):c.4558-3T>G
NM_000489.5(ATRX):c.4620_4625TGAAGA[1] (p.1540_1541DE[1]) rs797045406
NM_000489.5(ATRX):c.4654G>T (p.Val1552Phe)
NM_000489.5(ATRX):c.4659T>C (p.His1553=) rs25641
NM_000489.5(ATRX):c.480C>T (p.Arg160=) rs1422750101
NM_000489.5(ATRX):c.4826A>G (p.His1609Arg) rs122445093
NM_000489.5(ATRX):c.4840T>C (p.Cys1614Arg) rs122445094
NM_000489.5(ATRX):c.4862C>T (p.Thr1621Met) rs122445106
NM_000489.5(ATRX):c.4865C>T (p.Ala1622Val) rs1135401793
NM_000489.5(ATRX):c.4950G>T (p.Lys1650Asn) rs122445095
NM_000489.5(ATRX):c.5039T>C (p.Ile1680Thr) rs1557106482
NM_000489.5(ATRX):c.5048A>G (p.Tyr1683Cys)
NM_000489.5(ATRX):c.5124G>T (p.Leu1708Phe)
NM_000489.5(ATRX):c.5225G>A (p.Arg1742Lys) rs122445104
NM_000489.5(ATRX):c.5405A>C (p.Lys1802Thr)
NM_000489.5(ATRX):c.5406A>G (p.Lys1802=) rs1200376246
NM_000489.5(ATRX):c.5536C>T (p.Leu1846Phe) rs1557097008
NM_000489.5(ATRX):c.5565A>G (p.Thr1855=) rs1557096967
NM_000489.5(ATRX):c.5573G>A (p.Gly1858Asp)
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.5(ATRX):c.568C>G (p.Pro190Ala) rs122445103
NM_000489.5(ATRX):c.569C>T (p.Pro190Leu) rs1057518708
NM_000489.5(ATRX):c.5799A>G (p.Lys1933=) rs1557085918
NM_000489.5(ATRX):c.5935G>C (p.Val1979Leu)
NM_000489.5(ATRX):c.6104A>G (p.Asp2035Gly)
NM_000489.5(ATRX):c.6104A>T (p.Asp2035Val) rs122445096
NM_000489.5(ATRX):c.6122G>A (p.Ser2041Asn) rs1060499658
NM_000489.5(ATRX):c.6250T>C (p.Tyr2084His) rs122445097
NM_000489.5(ATRX):c.6379G>A (p.Val2127Ile)
NM_000489.5(ATRX):c.6392G>A (p.Arg2131Gln) rs122445101
NM_000489.5(ATRX):c.6484G>A (p.Val2162Ile) rs1569523175
NM_000489.5(ATRX):c.6488A>G (p.Tyr2163Cys) rs122445098
NM_000489.5(ATRX):c.6718C>T (p.Leu2240Phe) rs199474698
NM_000489.5(ATRX):c.6730C>T (p.His2244Tyr) rs1569515985
NM_000489.5(ATRX):c.6794A>G (p.Glu2265Gly) rs1557042387
NM_000489.5(ATRX):c.6863G>A (p.Arg2288His) rs1135401774
NM_000489.5(ATRX):c.6887A>G (p.Asn2296Ser) rs782274478
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.7156C>T (p.Arg2386Ter) rs122445099
NM_000489.5(ATRX):c.7162G>T (p.Glu2388Ter) rs122445100
NM_000489.5(ATRX):c.7192C>T (p.Gln2398Ter) rs1569515457
NM_000489.5(ATRX):c.729C>G (p.Cys243Trp) rs1057524153
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)
NM_000489.5(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136
NM_000489.5(ATRX):c.751A>G (p.Lys251Glu) rs1569539477
NM_000489.5(ATRX):c.829G>C (p.Val277Leu) rs1569539465
NM_000489.5(ATRX):c.913A>G (p.Ser305Gly) rs782778928
NM_138270.4(ATRX):c.370+2746del
NM_138270.4(ATRX):c.5854_5856TCT[2] (p.Ser1954del) rs782391479

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