ClinVar Miner

List of variants in gene ATRX studied for ATR-X syndrome

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Gene type:
ClinVar version:
Total variants: 133
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HGVS dbSNP
ATRX, IVSAS, T-A, -10
NC_000023.10:g.(?_76763809)_(76972740_?)dup
NM_000489.3(ATRX):c.4377_4379delGGA (p.Glu1464del) rs398123423
NM_000489.4(ATRX):c.1077G>T (p.Leu359=) rs782504858
NM_000489.4(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.4(ATRX):c.1256C>T (p.Ala419Val) rs374958282
NM_000489.4(ATRX):c.1448A>C (p.Gln483Pro) rs781820428
NM_000489.4(ATRX):c.1633C>G (p.Gln545Glu) rs35738915
NM_000489.4(ATRX):c.1781C>G (p.Ser594Cys) rs782774889
NM_000489.4(ATRX):c.2000C>T (p.Pro667Leu) rs61752457
NM_000489.4(ATRX):c.2064A>G (p.Lys688=) rs781991929
NM_000489.4(ATRX):c.2105A>G (p.Asn702Ser) rs782409603
NM_000489.4(ATRX):c.2169G>C (p.Glu723Asp) rs61752456
NM_000489.4(ATRX):c.222A>G (p.Ser74=) rs782427200
NM_000489.4(ATRX):c.228G>A (p.Ser76=) rs5959371
NM_000489.4(ATRX):c.2304G>C (p.Lys768Asn) rs1557139920
NM_000489.4(ATRX):c.2472G>C (p.Glu824Asp) rs1557139572
NM_000489.4(ATRX):c.2484G>C (p.Met828Ile) rs782705007
NM_000489.4(ATRX):c.2524C>T (p.Pro842Ser) rs782196312
NM_000489.4(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.4(ATRX):c.2696C>T (p.Thr899Met) rs782757975
NM_000489.4(ATRX):c.2785G>C (p.Glu929Gln) rs3088074
NM_000489.4(ATRX):c.2794A>G (p.Thr932Ala) rs1557138839
NM_000489.4(ATRX):c.2859A>G (p.Thr953=) rs782180867
NM_000489.4(ATRX):c.288A>G (p.Lys96=) rs45574238
NM_000489.4(ATRX):c.2968G>A (p.Glu990Lys) rs376883807
NM_000489.4(ATRX):c.3091G>A (p.Gly1031Ser) rs782781078
NM_000489.4(ATRX):c.3218G>C (p.Ser1073Thr) rs781825074
NM_000489.4(ATRX):c.3541G>C (p.Val1181Leu) rs61758732
NM_000489.4(ATRX):c.3546G>C (p.Lys1182Asn) rs1490780716
NM_000489.4(ATRX):c.3559A>G (p.Asn1187Asp) rs782146598
NM_000489.4(ATRX):c.357G>C (p.Gln119His) rs959739617
NM_000489.4(ATRX):c.3801T>C (p.Pro1267=) rs149717199
NM_000489.4(ATRX):c.3880G>C (p.Asp1294His) rs782386546
NM_000489.4(ATRX):c.4031A>G (p.Lys1344Arg) rs782556767
NM_000489.4(ATRX):c.4120+4A>C rs200420513
NM_000489.4(ATRX):c.4177G>C (p.Val1393Leu) rs147331649
NM_000489.4(ATRX):c.4214+6A>G rs782562759
NM_000489.4(ATRX):c.4347_4358delAGAAGAGGAGGA (p.Glu1461_Glu1464del) rs1557117424
NM_000489.4(ATRX):c.4350_4352delAGA (p.Glu1464del) rs587780288
NM_000489.4(ATRX):c.4635C>A (p.Thr1545=) rs148975763
NM_000489.4(ATRX):c.4659T>C (p.His1553=) rs25641
NM_000489.4(ATRX):c.4826A>G (p.His1609Arg) rs122445093
NM_000489.4(ATRX):c.4840T>C (p.Cys1614Arg) rs122445094
NM_000489.4(ATRX):c.4950G>T (p.Lys1650Asn) rs122445095
NM_000489.4(ATRX):c.5221A>C (p.Arg1741=) rs782633224
NM_000489.4(ATRX):c.546A>G (p.Gln182=) rs375794120
NM_000489.4(ATRX):c.5536C>T (p.Leu1846Phe) rs1557097008
NM_000489.4(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.4(ATRX):c.568C>G (p.Pro190Ala) rs122445103
NM_000489.4(ATRX):c.570T>G (p.Pro190=) rs188831993
NM_000489.4(ATRX):c.5787-8_5787-5delGTTT rs782072699
NM_000489.4(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002
NM_000489.4(ATRX):c.6104A>T (p.Asp2035Val) rs122445096
NM_000489.4(ATRX):c.6122G>A (p.Ser2041Asn) rs1060499658
NM_000489.4(ATRX):c.6240C>T (p.Asn2080=) rs1557069232
NM_000489.4(ATRX):c.6250T>C (p.Tyr2084His) rs122445097
NM_000489.4(ATRX):c.6405C>T (p.Phe2135=) rs148659669
NM_000489.4(ATRX):c.6488A>G (p.Tyr2163Cys) rs122445098
NM_000489.4(ATRX):c.6863G>A (p.Arg2288His) rs1135401774
NM_000489.4(ATRX):c.7156C>T (p.Arg2386Ter) rs122445099
NM_000489.4(ATRX):c.7162G>T (p.Glu2388Ter) rs122445100
NM_000489.4(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.4(ATRX):c.7435A>G (p.Met2479Val) rs200478641
NM_000489.4(ATRX):c.846C>T (p.Ser282=) rs148015780
NM_000489.5(ATRX):c.12G>A (p.Glu4=) rs782765957
NM_000489.5(ATRX):c.1322_1324del (p.Thr441del)
NM_000489.5(ATRX):c.1509A>G (p.Gln503=)
NM_000489.5(ATRX):c.1625T>C (p.Val542Ala) rs782158232
NM_000489.5(ATRX):c.1674T>A (p.Ser558Arg)
NM_000489.5(ATRX):c.167T>A (p.Met56Lys)
NM_000489.5(ATRX):c.1798A>G (p.Ile600Val)
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)
NM_000489.5(ATRX):c.2247_2249del (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.2316G>T (p.Gly772=) rs1187990991
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.2615A>T (p.Gln872Leu)
NM_000489.5(ATRX):c.2680A>C (p.Thr894Pro) rs145807475
NM_000489.5(ATRX):c.2720G>A (p.Arg907Gln) rs143413618
NM_000489.5(ATRX):c.2730G>C (p.Lys910Asn)
NM_000489.5(ATRX):c.2763C>T (p.Val921=) rs782004945
NM_000489.5(ATRX):c.2770C>A (p.Leu924Ile)
NM_000489.5(ATRX):c.2806G>C (p.Val936Leu) rs149232501
NM_000489.5(ATRX):c.2901A>G (p.Lys967=) rs782680197
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)
NM_000489.5(ATRX):c.3498_3500del (p.Lys1169del) rs782695846
NM_000489.5(ATRX):c.3505A>C (p.Lys1169Gln)
NM_000489.5(ATRX):c.3538A>G (p.Ile1180Val)
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.3987A>G (p.Glu1329=) rs147160114
NM_000489.5(ATRX):c.4004G>T (p.Arg1335Ile)
NM_000489.5(ATRX):c.4070A>G (p.Lys1357Arg) rs1064796812
NM_000489.5(ATRX):c.4096G>A (p.Val1366Ile)
NM_000489.5(ATRX):c.4210A>G (p.Thr1404Ala) rs781835568
NM_000489.5(ATRX):c.4215-5G>A rs111833322
NM_000489.5(ATRX):c.4239A>G (p.Glu1413=) rs141974120
NM_000489.5(ATRX):c.4317G>A (p.Lys1439=)
NM_000489.5(ATRX):c.4359_4361del (p.Glu1464del) rs782630348
NM_000489.5(ATRX):c.4366G>A (p.Glu1456Lys)
NM_000489.5(ATRX):c.480C>T (p.Arg160=) rs1422750101
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.5039T>C (p.Ile1680Thr) rs1557106482
NM_000489.5(ATRX):c.5225G>A (p.Arg1742Lys) rs122445104
NM_000489.5(ATRX):c.5406A>G (p.Lys1802=) rs1200376246
NM_000489.5(ATRX):c.5565A>G (p.Thr1855=) rs1557096967
NM_000489.5(ATRX):c.5698-7dup rs781820607
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.5974_5976delTCT (p.Ser1992del)
NM_000489.5(ATRX):c.6484G>A (p.Val2162Ile)
NM_000489.5(ATRX):c.6718C>T (p.Leu2240Phe) rs199474698
NM_000489.5(ATRX):c.6730C>T (p.His2244Tyr)
NM_000489.5(ATRX):c.6794A>G (p.Glu2265Gly) rs1557042387
NM_000489.5(ATRX):c.6869A>G (p.Asn2290Ser) rs368498507
NM_000489.5(ATRX):c.6927T>A (p.Ile2309=) rs1557041797
NM_000489.5(ATRX):c.6978C>A (p.Asp2326Glu)
NM_000489.5(ATRX):c.7083C>T (p.Asn2361=) rs3027525
NM_000489.5(ATRX):c.7192C>T (p.Gln2398Ter)
NM_000489.5(ATRX):c.7379A>G (p.Tyr2460Cys)
NM_000489.5(ATRX):c.751A>G (p.Lys251Glu)
NM_000489.5(ATRX):c.798C>T (p.Tyr266=) rs376341197
NM_000489.5(ATRX):c.829G>C (p.Val277Leu)
NM_000489.5(ATRX):c.913A>G (p.Ser305Gly) rs782778928

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