ClinVar Miner

List of variants in gene ATP7A reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 240
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HGVS dbSNP
NC_000023.10:g.(?_77227108)_(77305902_?)dup
NC_000023.10:g.(?_77243738)_(77302067_?)dup
NC_000023.10:g.(?_77266653)_(77268629_?)dup
NC_000023.10:g.(?_77271231)_(77271398_?)del
NC_000023.10:g.(?_77276422)_(77276596_?)del
NC_000023.10:g.(?_77284727)_(77302087_?)dup
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr) rs368622356
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr) rs138039591
NM_000052.7(ATP7A):c.1020G>A (p.Pro340=) rs372232940
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly) rs782196306
NM_000052.7(ATP7A):c.112C>T (p.His38Tyr) rs1603378831
NM_000052.7(ATP7A):c.1152T>C (p.Asp384=) rs147225045
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val) rs369419911
NM_000052.7(ATP7A):c.1159A>C (p.Thr387Pro) rs1569549600
NM_000052.7(ATP7A):c.121-2del rs1287511385
NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met)
NM_000052.7(ATP7A):c.1251G>T (p.Gly417=) rs781846400
NM_000052.7(ATP7A):c.1270C>T (p.Leu424=) rs139000596
NM_000052.7(ATP7A):c.1273C>T (p.Leu425=) rs781950759
NM_000052.7(ATP7A):c.1273del (p.Leu424_Leu425insTer)
NM_000052.7(ATP7A):c.1302A>C (p.Ala434=) rs782148279
NM_000052.7(ATP7A):c.1313T>C (p.Met438Thr)
NM_000052.7(ATP7A):c.1327A>G (p.Thr443Ala)
NM_000052.7(ATP7A):c.1384C>G (p.Pro462Ala) rs781964005
NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu) rs201999500
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile) rs782702847
NM_000052.7(ATP7A):c.1478A>G (p.Gln493Arg)
NM_000052.7(ATP7A):c.1487G>C (p.Gly496Ala) rs1193696385
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr) rs781786942
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597
NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter) rs1569549699
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe) rs1331470313
NM_000052.7(ATP7A):c.1574C>G (p.Ala525Gly)
NM_000052.7(ATP7A):c.1583C>G (p.Ala528Gly)
NM_000052.7(ATP7A):c.1597A>G (p.Asn533Asp) rs1057524455
NM_000052.7(ATP7A):c.15G>A (p.Met5Ile) rs781952393
NM_000052.7(ATP7A):c.1615C>A (p.Pro539Thr) rs781817601
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter) rs797045332
NM_000052.7(ATP7A):c.1675G>A (p.Ala559Thr) rs1603383823
NM_000052.7(ATP7A):c.1677T>G (p.Ala559=) rs149841982
NM_000052.7(ATP7A):c.1708-5A>C rs782104249
NM_000052.7(ATP7A):c.1714G>A (p.Gly572Arg)
NM_000052.7(ATP7A):c.1722G>A (p.Thr574=) rs207478437
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=) rs72554638
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691
NM_000052.7(ATP7A):c.1753A>G (p.Ser585Gly)
NM_000052.7(ATP7A):c.1767C>G (p.His589Gln) rs1603384813
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly) rs146887876
NM_000052.7(ATP7A):c.177A>G (p.Pro59=) rs142463642
NM_000052.7(ATP7A):c.1788C>A (p.Ser596=) rs368747913
NM_000052.7(ATP7A):c.1788C>T (p.Ser596=) rs368747913
NM_000052.7(ATP7A):c.17G>A (p.Gly6Asp)
NM_000052.7(ATP7A):c.1802C>A (p.Thr601Asn) rs371777895
NM_000052.7(ATP7A):c.1814A>G (p.His605Arg) rs1020034878
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys) rs61742278
NM_000052.7(ATP7A):c.1850A>G (p.Asp617Gly)
NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe) rs372898963
NM_000052.7(ATP7A):c.1909T>G (p.Ser637Ala)
NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg) rs781900997
NM_000052.7(ATP7A):c.1934G>A (p.Arg645Gln) rs782729433
NM_000052.7(ATP7A):c.1937A>C (p.Glu646Ala)
NM_000052.7(ATP7A):c.1945_1946+2dup
NM_000052.7(ATP7A):c.1947-5A>G rs1557234466
NM_000052.7(ATP7A):c.1954C>T (p.Arg652Trp) rs377714939
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563
NM_000052.7(ATP7A):c.1974G>C (p.Leu658=) rs781957241
NM_000052.7(ATP7A):c.2019_2021dup (p.Met674_Asp675insIle) rs1569549885
NM_000052.7(ATP7A):c.202G>A (p.Asp68Asn) rs782629836
NM_000052.7(ATP7A):c.2039C>T (p.Thr680Ile) rs782455461
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150
NM_000052.7(ATP7A):c.2071G>A (p.Glu691Lys) rs944415019
NM_000052.7(ATP7A):c.207G>A (p.Met69Ile) rs782290331
NM_000052.7(ATP7A):c.2093C>T (p.Ser698Phe)
NM_000052.7(ATP7A):c.209G>A (p.Gly70Asp) rs782415705
NM_000052.7(ATP7A):c.2108G>A (p.Arg703His)
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile) rs782268170
NM_000052.7(ATP7A):c.2172+2C>T
NM_000052.7(ATP7A):c.2172+5G>C rs797045347
NM_000052.7(ATP7A):c.2172+7G>T rs782433802
NM_000052.7(ATP7A):c.2182G>C (p.Gly728Arg)
NM_000052.7(ATP7A):c.219T>C (p.Ala73=) rs1557231581
NM_000052.7(ATP7A):c.2208T>C (p.Tyr736=) rs1557234725
NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg) rs782664014
NM_000052.7(ATP7A):c.2241C>T (p.Asp747=) rs781928652
NM_000052.7(ATP7A):c.2277C>G (p.Ala759=) rs1473914623
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys) rs782006661
NM_000052.7(ATP7A):c.2353C>A (p.Pro785Thr) rs1057523512
NM_000052.7(ATP7A):c.2364T>C (p.Phe788=) rs1557234754
NM_000052.7(ATP7A):c.2365G>T (p.Val789Leu)
NM_000052.7(ATP7A):c.2391G>A (p.Leu797=) rs1603385697
NM_000052.7(ATP7A):c.2406+6G>A
NM_000052.7(ATP7A):c.2437A>G (p.Ile813Val)
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154
NM_000052.7(ATP7A):c.2458G>C (p.Ala820Pro) rs1557234938
NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer) rs1569549974
NM_000052.7(ATP7A):c.2490C>T (p.Ile830=) rs368261204
NM_000052.7(ATP7A):c.2498+3A>T rs1603386005
NM_000052.7(ATP7A):c.2499-7T>C rs782260332
NM_000052.7(ATP7A):c.2499-9T>C rs1557235070
NM_000052.7(ATP7A):c.2513A>G (p.Asp838Gly) rs1603386154
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val) rs372318616
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys) rs374162669
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His) rs367775730
NM_000052.7(ATP7A):c.2532T>G (p.Arg844=) rs782315761
NM_000052.7(ATP7A):c.2556A>T (p.Pro852=) rs781950120
NM_000052.7(ATP7A):c.2581C>T (p.Arg861Cys) rs781892236
NM_000052.7(ATP7A):c.2582G>A (p.Arg861His) rs782174967
NM_000052.7(ATP7A):c.2607A>G (p.Val869=) rs61053012
NM_000052.7(ATP7A):c.2627-7C>T rs1603386991
NM_000052.7(ATP7A):c.2663del (p.Thr888fs)
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=) rs140838569
NM_000052.7(ATP7A):c.2710G>A (p.Ala904Thr) rs1427317043
NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr) rs146119866
NM_000052.7(ATP7A):c.2774C>T (p.Thr925Ile)
NM_000052.7(ATP7A):c.2775A>G (p.Thr925=) rs1603387045
NM_000052.7(ATP7A):c.2778A>G (p.Ser926=) rs1557235619
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met) rs539177302
NM_000052.7(ATP7A):c.2815G>A (p.Gly939Ser) rs1569550056
NM_000052.7(ATP7A):c.282G>A (p.Ala94=) rs370700841
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000052.7(ATP7A):c.2917-9C>T rs188421674
NM_000052.7(ATP7A):c.2948C>T (p.Thr983Met) rs782094358
NM_000052.7(ATP7A):c.2977A>G (p.Ile993Val) rs1353488746
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000052.7(ATP7A):c.3028A>G (p.Thr1010Ala) rs782480109
NM_000052.7(ATP7A):c.3028_3030delinsGTG (p.Thr1010Val) rs1557236745
NM_000052.7(ATP7A):c.3037_3038delinsGA (p.Met1013Glu) rs1557236747
NM_000052.7(ATP7A):c.3070A>G (p.Ile1024Val) rs1341604631
NM_000052.7(ATP7A):c.3094T>C (p.Leu1032=) rs369055537
NM_000052.7(ATP7A):c.3111+1G>A rs1557236762
NM_000052.7(ATP7A):c.3112G>A (p.Val1038Ile) rs181435872
NM_000052.7(ATP7A):c.312A>G (p.Gln104=) rs146414063
NM_000052.7(ATP7A):c.314G>A (p.Ser105Asn) rs782475540
NM_000052.7(ATP7A):c.3153C>A (p.His1051Gln)
NM_000052.7(ATP7A):c.3153C>T (p.His1051=) rs142998552
NM_000052.7(ATP7A):c.3168G>T (p.Val1056=) rs371089220
NM_000052.7(ATP7A):c.317C>T (p.Thr106Ile) rs782647620
NM_000052.7(ATP7A):c.318A>G (p.Thr106=) rs781851530
NM_000052.7(ATP7A):c.3210C>T (p.His1070=) rs185917115
NM_000052.7(ATP7A):c.3245G>A (p.Ser1082Asn) rs1603389390
NM_000052.7(ATP7A):c.3250dup (p.Ser1084fs) rs1603389393
NM_000052.7(ATP7A):c.327G>A (p.Lys109=) rs61747968
NM_000052.7(ATP7A):c.3289A>C (p.Lys1097Gln) rs1557237081
NM_000052.7(ATP7A):c.3294+1G>A rs797045374
NM_000052.7(ATP7A):c.3304A>T (p.Thr1102Ser)
NM_000052.7(ATP7A):c.3374A>G (p.Asn1125Ser) rs782764064
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr) rs201225704
NM_000052.7(ATP7A):c.3457A>G (p.Ser1153Gly) rs1363235909
NM_000052.7(ATP7A):c.3461A>G (p.Asn1154Ser) rs1288867080
NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter) rs1557237451
NM_000052.7(ATP7A):c.3475A>G (p.Thr1159Ala) rs138154934
NM_000052.7(ATP7A):c.3476C>T (p.Thr1159Ile) rs1557237452
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=) rs144293453
NM_000052.7(ATP7A):c.3526C>T (p.Gln1176Ter)
NM_000052.7(ATP7A):c.3553C>T (p.Arg1185Trp) rs781907456
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val) rs368917354
NM_000052.7(ATP7A):c.3587A>G (p.Asn1196Ser) rs782250966
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp) rs148765730
NM_000052.7(ATP7A):c.360T>A (p.Pro120=) rs1557231616
NM_000052.7(ATP7A):c.3613G>C (p.Glu1205Gln) rs782349186
NM_000052.7(ATP7A):c.3621G>A (p.Glu1207=) rs141535376
NM_000052.7(ATP7A):c.3623G>T (p.Arg1208Ile)
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys) rs782664232
NM_000052.7(ATP7A):c.3696G>A (p.Val1232=) rs1557238252
NM_000052.7(ATP7A):c.3701C>G (p.Pro1234Arg) rs1557238254
NM_000052.7(ATP7A):c.3724A>T (p.Ile1242Phe) rs1603390828
NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val)
NM_000052.7(ATP7A):c.373G>T (p.Val125Leu) rs782688596
NM_000052.7(ATP7A):c.3776A>T (p.Lys1259Ile)
NM_000052.7(ATP7A):c.3786A>G (p.Arg1262=) rs1557238272
NM_000052.7(ATP7A):c.3790A>G (p.Ile1264Val) rs782323741
NM_000052.7(ATP7A):c.3801+6T>C rs181665434
NM_000052.7(ATP7A):c.3802-9A>G rs1557238565
NM_000052.7(ATP7A):c.3863A>G (p.Gln1288Arg) rs375788705
NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter) rs1603391120
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp) rs372489000
NM_000052.7(ATP7A):c.3894G>C (p.Met1298Ile) rs782499160
NM_000052.7(ATP7A):c.3903T>C (p.Asp1301=) rs782582761
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val) rs139781067
NM_000052.7(ATP7A):c.4006-1G>A rs1557238665
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049
NM_000052.7(ATP7A):c.4027del (p.Ala1343fs)
NM_000052.7(ATP7A):c.4029A>C (p.Ala1343=) rs1603391248
NM_000052.7(ATP7A):c.4038C>T (p.Asp1346=) rs375819425
NM_000052.7(ATP7A):c.4061G>A (p.Arg1354Lys)
NM_000052.7(ATP7A):c.4062G>C (p.Arg1354Ser) rs1603391261
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) rs370736173
NM_000052.7(ATP7A):c.4067G>A (p.Arg1356Gln) rs782260602
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser)
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser) rs267606672
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130
NM_000052.7(ATP7A):c.420_421AG[1] (p.Glu141fs) rs797045397
NM_000052.7(ATP7A):c.4226+9G>A rs1557239012
NM_000052.7(ATP7A):c.4244A>G (p.Tyr1415Cys) rs1280037924
NM_000052.7(ATP7A):c.4245C>T (p.Tyr1415=) rs782346811
NM_000052.7(ATP7A):c.4246G>A (p.Glu1416Lys)
NM_000052.7(ATP7A):c.4267C>A (p.Arg1423=) rs149079962
NM_000052.7(ATP7A):c.4267C>T (p.Arg1423Trp) rs149079962
NM_000052.7(ATP7A):c.4268G>A (p.Arg1423Gln)
NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile) rs782682493
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe) rs782364202
NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln) rs147848649
NM_000052.7(ATP7A):c.4369G>T (p.Val1457Phe)
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=) rs371939448
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys) rs782062633
NM_000052.7(ATP7A):c.4422A>G (p.Leu1474=) rs1557239138
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser) rs782774219
NM_000052.7(ATP7A):c.4445C>G (p.Pro1482Arg) rs1557239147
NM_000052.7(ATP7A):c.4467G>C (p.Val1489=) rs1603391708
NM_000052.7(ATP7A):c.4490A>G (p.Asp1497Gly) rs1557239152
NM_000052.7(ATP7A):c.453del (p.Thr152fs) rs1603381331
NM_000052.7(ATP7A):c.462dup (p.Lys155fs)
NM_000052.7(ATP7A):c.470C>T (p.Ser157Leu) rs782716555
NM_000052.7(ATP7A):c.475G>A (p.Ala159Thr) rs188836609
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn) rs144655617
NM_000052.7(ATP7A):c.502G>A (p.Ala168Thr) rs781838499
NM_000052.7(ATP7A):c.513C>T (p.Val171=) rs782643553
NM_000052.7(ATP7A):c.514G>A (p.Val172Met)
NM_000052.7(ATP7A):c.556A>C (p.Thr186Pro)
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) rs151340633
NM_000052.7(ATP7A):c.610+8G>A rs144616937
NM_000052.7(ATP7A):c.635C>T (p.Thr212Ile) rs1557231734
NM_000052.7(ATP7A):c.645T>C (p.Tyr215=) rs782587854
NM_000052.7(ATP7A):c.65G>A (p.Cys22Tyr)
NM_000052.7(ATP7A):c.673A>G (p.Met225Val) rs782619990
NM_000052.7(ATP7A):c.705A>C (p.Pro235=) rs199608277
NM_000052.7(ATP7A):c.729G>A (p.Lys243=) rs782326318
NM_000052.7(ATP7A):c.796T>A (p.Ser266Thr)
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val) rs782237314
NM_000052.7(ATP7A):c.84G>A (p.Gln28=) rs1603378828
NM_000052.7(ATP7A):c.864T>C (p.Cys288=) rs142521666
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr) rs150526992
NM_000052.7(ATP7A):c.903A>C (p.Ala301=) rs1557231803
NM_000052.7(ATP7A):c.909A>G (p.Gln303=)
NM_000052.7(ATP7A):c.922A>G (p.Ile308Val) rs782351352
NM_000052.7(ATP7A):c.92G>A (p.Gly31Glu) rs1569549378
NM_000052.7(ATP7A):c.94A>C (p.Lys32Gln)
NM_000052.7(ATP7A):c.963T>C (p.Tyr321=) rs1557231829

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