ClinVar Miner

List of variants in gene ATP7A reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 221
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HGVS dbSNP gnomAD frequency
NM_000052.7(ATP7A):c.-22+117T>C rs2184780 0.99913
NM_000052.7(ATP7A):c.2407-184G>T rs5959964 0.26375
NM_000052.7(ATP7A):c.2782-29C>A rs113968994 0.25602
NM_000052.7(ATP7A):c.2781+141G>A rs7053543 0.25168
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291 0.24533
NM_000052.7(ATP7A):c.4123+288A>G rs112181954 0.24240
NM_000052.7(ATP7A):c.120+328G>C rs113665704 0.05655
NM_000052.7(ATP7A):c.3658+136_3658+137del rs10591781 0.05437
NM_000052.7(ATP7A):c.*267A>G rs151132335 0.02304
NM_000052.7(ATP7A):c.4226+48A>G rs17218310 0.01515
NM_000052.7(ATP7A):c.*208A>G rs142059968 0.01260
NM_000052.7(ATP7A):c.327G>A (p.Lys109=) rs61747968 0.00978
NM_000052.7(ATP7A):c.120+194A>G rs139196328 0.00889
NM_000052.7(ATP7A):c.1544-155G>T rs111544036 0.00886
NM_000052.7(ATP7A):c.1708-264C>A rs113529215 0.00865
NM_000052.7(ATP7A):c.2498+113A>G rs181240427 0.00831
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597 0.00750
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447 0.00731
NM_000052.7(ATP7A):c.2406+164A>T rs192353701 0.00702
NM_000052.7(ATP7A):c.3294+605C>G rs147306552 0.00647
NM_000052.7(ATP7A):c.3802-302A>G rs188655939 0.00635
NM_000052.7(ATP7A):c.3294+907C>T rs139339244 0.00521
NM_000052.7(ATP7A):c.610+8G>A rs144616937 0.00506
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130 0.00500
NM_000052.7(ATP7A):c.2627-202C>T rs150538110 0.00476
NM_000052.7(ATP7A):c.2498+121A>G rs185690492 0.00475
NM_000052.7(ATP7A):c.3111+266G>A rs143063698 0.00399
NM_000052.7(ATP7A):c.4226+11T>C rs200009243 0.00383
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys) rs61742278 0.00380
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn) rs144655617 0.00356
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp) rs148765730 0.00280
NM_000052.7(ATP7A):c.120+43G>A rs200365512 0.00247
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly) rs146887876 0.00117
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563 0.00089
NM_000052.7(ATP7A):c.2173-24A>G rs373061724 0.00086
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049 0.00082
NM_000052.7(ATP7A):c.3475A>G (p.Thr1159Ala) rs138154934 0.00078
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr) rs138039591 0.00069
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938 0.00066
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150 0.00060
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr) rs150526992 0.00060
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val) rs139781067 0.00058
NM_000052.7(ATP7A):c.3801+6T>C rs181665434 0.00048
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00046
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154 0.00039
NM_000052.7(ATP7A):c.610+19A>G rs367724628 0.00036
NM_000052.7(ATP7A):c.864T>C (p.Cys288=) rs142521666 0.00036
NM_000052.7(ATP7A):c.2172+117C>G rs782456456 0.00030
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=) rs140838569 0.00028
NM_000052.7(ATP7A):c.282G>A (p.Ala94=) rs370700841 0.00027
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile) rs782268170 0.00025
NM_000052.7(ATP7A):c.177A>G (p.Pro59=) rs142463642 0.00022
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val) rs372318616 0.00020
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr) rs201225704 0.00018
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp) rs372489000 0.00018
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691 0.00015
NM_000052.7(ATP7A):c.312A>G (p.Gln104=) rs146414063 0.00014
NM_000052.7(ATP7A):c.3153C>T (p.His1051=) rs142998552 0.00014
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys) rs374162669 0.00012
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met) rs539177302 0.00012
NM_000052.7(ATP7A):c.3210C>T (p.His1070=) rs185917115 0.00012
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr) rs368622356 0.00010
NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu) rs201999500 0.00009
NM_000052.7(ATP7A):c.2407-14G>T rs782184126 0.00009
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His) rs367775730 0.00009
NM_000052.7(ATP7A):c.3623G>T (p.Arg1208Ile) rs146392305 0.00009
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly) rs782196306 0.00008
NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln) rs147848649 0.00008
NM_000052.7(ATP7A):c.922A>G (p.Ile308Val) rs782351352 0.00008
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val) rs368917354 0.00007
NM_000052.7(ATP7A):c.1677T>G (p.Ala559=) rs149841982 0.00006
NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe) rs372898963 0.00006
NM_000052.7(ATP7A):c.1934G>A (p.Arg645Gln) rs782729433 0.00006
NM_000052.7(ATP7A):c.-22+13T>C rs563965187 0.00005
NM_000052.7(ATP7A):c.1273C>T (p.Leu425=) rs781950759 0.00005
NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met) rs782076879 0.00005
NM_000052.7(ATP7A):c.1722G>A (p.Thr574=) rs207478437 0.00005
NM_000052.7(ATP7A):c.2241C>T (p.Asp747=) rs781928652 0.00005
NM_000052.7(ATP7A):c.3117G>T (p.Lys1039Asn) rs1057520234 0.00005
NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile) rs782682493 0.00005
NM_000052.7(ATP7A):c.673A>G (p.Met225Val) rs782619990 0.00005
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val) rs369419911 0.00004
NM_000052.7(ATP7A):c.2499-7T>C rs782260332 0.00004
NM_000052.7(ATP7A):c.645T>C (p.Tyr215=) rs782587854 0.00004
NM_000052.7(ATP7A):c.1386G>A (p.Pro462=) rs1297787618 0.00003
NM_000052.7(ATP7A):c.1561G>A (p.Val521Met) rs139902461 0.00003
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser) rs782774219 0.00003
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val) rs782237314 0.00003
NM_000052.7(ATP7A):c.1019C>T (p.Pro340Leu) rs1557231845 0.00002
NM_000052.7(ATP7A):c.1082C>T (p.Ser361Leu) rs782651571 0.00002
NM_000052.7(ATP7A):c.1375T>C (p.Ser459Pro) rs374530062 0.00002
NM_000052.7(ATP7A):c.1543+9C>G rs367977602 0.00002
NM_000052.7(ATP7A):c.1789G>A (p.Val597Met) rs781959472 0.00002
NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg) rs782664014 0.00002
NM_000052.7(ATP7A):c.2710G>A (p.Ala904Thr) rs1427317043 0.00002
NM_000052.7(ATP7A):c.3434C>T (p.Ala1145Val) rs374154862 0.00002
NM_000052.7(ATP7A):c.4058A>G (p.Lys1353Arg) rs781912153 0.00002
NM_000052.7(ATP7A):c.406G>A (p.Ala136Thr) rs781912401 0.00002
NM_000052.7(ATP7A):c.4227-1G>A rs782283173 0.00002
NM_000052.7(ATP7A):c.1040T>C (p.Ile347Thr) rs368982547 0.00001
NM_000052.7(ATP7A):c.1106A>G (p.Asn369Ser) rs1557231866 0.00001
NM_000052.7(ATP7A):c.1141A>G (p.Ile381Val) rs1349223430 0.00001
NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met) rs373634671 0.00001
NM_000052.7(ATP7A):c.1313T>C (p.Met438Thr) rs377651753 0.00001
NM_000052.7(ATP7A):c.1376C>T (p.Ser459Leu) rs1557232786 0.00001
NM_000052.7(ATP7A):c.1384C>G (p.Pro462Ala) rs781964005 0.00001
NM_000052.7(ATP7A):c.142G>A (p.Ala48Thr) rs1557231562 0.00001
NM_000052.7(ATP7A):c.1474A>G (p.Ile492Val) rs781874593 0.00001
NM_000052.7(ATP7A):c.1630G>C (p.Glu544Gln) rs782491733 0.00001
NM_000052.7(ATP7A):c.1802C>A (p.Thr601Asn) rs371777895 0.00001
NM_000052.7(ATP7A):c.1829C>T (p.Pro610Leu) rs781872960 0.00001
NM_000052.7(ATP7A):c.1867G>A (p.Glu623Lys) rs1382569560 0.00001
NM_000052.7(ATP7A):c.1993A>C (p.Met665Leu) rs879254156 0.00001
NM_000052.7(ATP7A):c.2047C>T (p.His683Tyr) rs782729792 0.00001
NM_000052.7(ATP7A):c.2071G>A (p.Glu691Lys) rs944415019 0.00001
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys) rs782006661 0.00001
NM_000052.7(ATP7A):c.2287A>G (p.Ile763Val) rs2077837721 0.00001
NM_000052.7(ATP7A):c.2313G>C (p.Glu771Asp) rs1443260520 0.00001
NM_000052.7(ATP7A):c.2924A>G (p.Asn975Ser) rs1557236698 0.00001
NM_000052.7(ATP7A):c.2939G>A (p.Arg980Gln) rs1057522925 0.00001
NM_000052.7(ATP7A):c.2957G>A (p.Arg986Gln) rs781995242 0.00001
NM_000052.7(ATP7A):c.3112G>A (p.Val1038Ile) rs181435872 0.00001
NM_000052.7(ATP7A):c.3174A>G (p.Gln1058=) rs1057518370 0.00001
NM_000052.7(ATP7A):c.3659-5A>G rs1557238245 0.00001
NM_000052.7(ATP7A):c.3894G>C (p.Met1298Ile) rs782499160 0.00001
NM_000052.7(ATP7A):c.3895G>T (p.Val1299Leu) rs782628250 0.00001
NM_000052.7(ATP7A):c.4006-11T>A rs1325784914 0.00001
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) rs370736173 0.00001
NM_000052.7(ATP7A):c.4180G>T (p.Ala1394Ser) rs189818149 0.00001
NM_000052.7(ATP7A):c.4268G>A (p.Arg1423Gln) rs368091927 0.00001
NM_000052.7(ATP7A):c.513C>T (p.Val171=) rs782643553 0.00001
NM_000052.7(ATP7A):c.760C>T (p.Arg254Cys) rs374855698 0.00001
NM_000052.7(ATP7A):c.*310del rs200579535
NM_000052.7(ATP7A):c.*40C>G rs148698322
NM_000052.7(ATP7A):c.-22+13T>G rs563965187
NM_000052.7(ATP7A):c.1142T>G (p.Ile381Arg) rs1057522517
NM_000052.7(ATP7A):c.121-2del rs1287511385
NM_000052.7(ATP7A):c.1251G>T (p.Gly417=) rs781846400
NM_000052.7(ATP7A):c.136A>G (p.Lys46Glu) rs1603381269
NM_000052.7(ATP7A):c.1486G>T (p.Gly496Cys) rs1249256780
NM_000052.7(ATP7A):c.1498G>A (p.Ala500Thr) rs2149087885
NM_000052.7(ATP7A):c.1534C>T (p.Arg512Trp) rs1030215501
NM_000052.7(ATP7A):c.1543+240dup rs782274914
NM_000052.7(ATP7A):c.1543+86dup rs112508476
NM_000052.7(ATP7A):c.1544-273AC[19] rs781808445
NM_000052.7(ATP7A):c.1544-273AC[20] rs781808445
NM_000052.7(ATP7A):c.1544-273AC[21] rs781808445
NM_000052.7(ATP7A):c.1544-273AC[23] rs781808445
NM_000052.7(ATP7A):c.1544-273AC[24] rs781808445
NM_000052.7(ATP7A):c.1544-273AC[25] rs781808445
NM_000052.7(ATP7A):c.1570A>G (p.Met524Val) rs2149090232
NM_000052.7(ATP7A):c.1597A>G (p.Asn533Asp) rs1057524455
NM_000052.7(ATP7A):c.1707+6_1707+9del rs879253938
NM_000052.7(ATP7A):c.1758C>T (p.Leu586=) rs1557234088
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.1795C>G (p.Leu599Val) rs2149093539
NM_000052.7(ATP7A):c.1870-3T>A rs1557234394
NM_000052.7(ATP7A):c.1892T>C (p.Leu631Ser) rs876661241
NM_000052.7(ATP7A):c.1903G>A (p.Asp635Asn) rs2149094962
NM_000052.7(ATP7A):c.1906C>T (p.Arg636Trp) rs1057523112
NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg) rs781900997
NM_000052.7(ATP7A):c.1947-65G>A rs142953341
NM_000052.7(ATP7A):c.1958C>G (p.Ser653Cys)
NM_000052.7(ATP7A):c.2019_2021dup (p.Val673_Met674insIle) rs1569549885
NM_000052.7(ATP7A):c.209G>C (p.Gly70Ala)
NM_000052.7(ATP7A):c.2131G>C (p.Val711Leu) rs782268170
NM_000052.7(ATP7A):c.2161G>A (p.Val721Ile) rs1557234543
NM_000052.7(ATP7A):c.2173-269del rs782360257
NM_000052.7(ATP7A):c.2173-269dup rs782360257
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg) rs72554644
NM_000052.7(ATP7A):c.2219A>G (p.Lys740Arg) rs2077837209
NM_000052.7(ATP7A):c.2251G>A (p.Val751Met)
NM_000052.7(ATP7A):c.2269G>A (p.Ala757Thr)
NM_000052.7(ATP7A):c.2329C>A (p.Pro777Thr) rs879254312
NM_000052.7(ATP7A):c.2353C>A (p.Pro785Thr) rs1057523512
NM_000052.7(ATP7A):c.2380G>C (p.Gly794Arg)
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000052.7(ATP7A):c.2485A>T (p.Asn829Tyr) rs1163453293
NM_000052.7(ATP7A):c.2540T>C (p.Ile847Thr) rs2149097365
NM_000052.7(ATP7A):c.2551G>A (p.Val851Ile) rs2149097373
NM_000052.7(ATP7A):c.2626+4del
NM_000052.7(ATP7A):c.2669T>C (p.Ile890Thr) rs2149099646
NM_000052.7(ATP7A):c.2711C>T (p.Ala904Val)
NM_000052.7(ATP7A):c.2773A>G (p.Thr925Ala) rs782777820
NM_000052.7(ATP7A):c.2782-253del rs200190598
NM_000052.7(ATP7A):c.278C>G (p.Thr93Arg) rs539177302
NM_000052.7(ATP7A):c.2815G>A (p.Gly939Ser) rs1569550056
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter) rs72554650
NM_000052.7(ATP7A):c.3028_3038delinsGTGGCTGTGGA (p.Thr1010_Met1013delinsValAlaValGlu) rs2149104906
NM_000052.7(ATP7A):c.3044G>C (p.Gly1015Ala) rs2149104921
NM_000052.7(ATP7A):c.3077T>C (p.Ile1026Thr) rs2149104943
NM_000052.7(ATP7A):c.3112-66= rs5902762
NM_000052.7(ATP7A):c.3137C>T (p.Thr1046Ile) rs1064796648
NM_000052.7(ATP7A):c.3294+2T>C
NM_000052.7(ATP7A):c.3337G>A (p.Val1113Ile) rs879254006
NM_000052.7(ATP7A):c.3521A>T (p.Asn1174Ile) rs876661235
NM_000052.7(ATP7A):c.3659-257G>C rs138431566
NM_000052.7(ATP7A):c.3659-42= rs5913631
NM_000052.7(ATP7A):c.3788C>G (p.Ser1263Cys) rs372066609
NM_000052.7(ATP7A):c.3802-21_3802-11dup rs782271446
NM_000052.7(ATP7A):c.3812del (p.Thr1271fs) rs1557238569
NM_000052.7(ATP7A):c.3816G>C (p.Lys1272Asn) rs2149111723
NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser) rs151340632
NM_000052.7(ATP7A):c.392C>G (p.Pro131Arg)
NM_000052.7(ATP7A):c.3935C>A (p.Ala1312Asp) rs2149111820
NM_000052.7(ATP7A):c.4048= (p.Lys1350=) rs4826245
NM_000052.7(ATP7A):c.4102G>A (p.Val1368Ile) rs782483019
NM_000052.7(ATP7A):c.4123+241dup rs781972709
NM_000052.7(ATP7A):c.4267C>A (p.Arg1423=) rs149079962
NM_000052.7(ATP7A):c.435A>T (p.Glu145Asp)
NM_000052.7(ATP7A):c.4391T>A (p.Ile1464Lys) rs2149114089
NM_000052.7(ATP7A):c.4425C>A (p.Asn1475Lys) rs1557239142
NM_000052.7(ATP7A):c.553T>A (p.Cys185Ser)
NM_000052.7(ATP7A):c.610+108G>A rs148390231
NM_000052.7(ATP7A):c.686T>C (p.Ile229Thr) rs1557231750
NM_000052.7(ATP7A):c.751G>A (p.Asp251Asn)
NM_000052.7(ATP7A):c.839C>T (p.Thr280Ile)
NM_000052.7(ATP7A):c.899C>G (p.Ser300Cys)
NM_000052.7(ATP7A):c.905T>G (p.Leu302Arg) rs2149083172
NM_000052.7(ATP7A):c.972C>T (p.Ser324=) rs1002928416

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