ClinVar Miner

List of variants in gene ATP7A reported as uncertain significance for not provided

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Gene type:
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Total variants: 152
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HGVS dbSNP gnomAD frequency
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563 0.00089
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.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.2903A>G (p.Glu968Gly) rs138958687 0.00046
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile) rs782268170 0.00025
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr) rs781786942 0.00024
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val) rs372318616 0.00020
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met) rs539177302 0.00012
NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu) rs201999500 0.00009
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His) rs367775730 0.00009
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly) rs782196306 0.00008
NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe) rs372898963 0.00006
NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met) rs782076879 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.1561G>A (p.Val521Met) rs139902461 0.00003
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=) rs72554638 0.00003
NM_000052.7(ATP7A):c.2582G>A (p.Arg861His) rs782174967 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.1306G>A (p.Glu436Lys) rs782717793 0.00002
NM_000052.7(ATP7A):c.1375T>C (p.Ser459Pro) rs374530062 0.00002
NM_000052.7(ATP7A):c.1756C>G (p.Leu586Val) rs782444523 0.00002
NM_000052.7(ATP7A):c.1789G>A (p.Val597Met) rs781959472 0.00002
NM_000052.7(ATP7A):c.2710G>A (p.Ala904Thr) rs1427317043 0.00002
NM_000052.7(ATP7A):c.2948C>T (p.Thr983Met) rs782094358 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.1211G>A (p.Gly404Asp) rs782000271 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.142G>A (p.Ala48Thr) rs1557231562 0.00001
NM_000052.7(ATP7A):c.1448A>G (p.Glu483Gly) rs781834607 0.00001
NM_000052.7(ATP7A):c.1474A>G (p.Ile492Val) rs781874593 0.00001
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe) rs1331470313 0.00001
NM_000052.7(ATP7A):c.1630G>C (p.Glu544Gln) rs782491733 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.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.2375C>T (p.Ala792Val) rs782770209 0.00001
NM_000052.7(ATP7A):c.2687A>G (p.Gln896Arg) rs1324162252 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.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.4180G>T (p.Ala1394Ser) rs189818149 0.00001
NM_000052.7(ATP7A):c.4268G>A (p.Arg1423Gln) rs368091927 0.00001
NM_000052.7(ATP7A):c.4310A>G (p.His1437Arg) rs1557239111 0.00001
NM_000052.7(ATP7A):c.4363C>T (p.Arg1455Trp) rs1457236338 0.00001
NM_000052.7(ATP7A):c.4426A>T (p.Ser1476Cys) rs1557239144 0.00001
NM_000052.7(ATP7A):c.760C>T (p.Arg254Cys) rs374855698 0.00001
NM_000052.7(ATP7A):c.843C>A (p.Phe281Leu) rs1039952708 0.00001
NM_000052.7(ATP7A):c.1142T>G (p.Ile381Arg) rs1057522517
NM_000052.7(ATP7A):c.120+5G>A rs1569549379
NM_000052.7(ATP7A):c.1256T>C (p.Val419Ala)
NM_000052.7(ATP7A):c.1352T>C (p.Leu451Ser)
NM_000052.7(ATP7A):c.136A>G (p.Lys46Glu) rs1603381269
NM_000052.7(ATP7A):c.1483A>G (p.Thr495Ala) rs2149087878
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.1533G>T (p.Arg511Ser) rs2149087902
NM_000052.7(ATP7A):c.1534C>T (p.Arg512Trp) rs1030215501
NM_000052.7(ATP7A):c.1570A>G (p.Met524Val) rs2149090232
NM_000052.7(ATP7A):c.1588G>A (p.Val530Ile) rs398123134
NM_000052.7(ATP7A):c.1592G>T (p.Arg531Met) rs782048861
NM_000052.7(ATP7A):c.1597A>G (p.Asn533Asp) rs1057524455
NM_000052.7(ATP7A):c.1621A>G (p.Met541Val) rs1557233382
NM_000052.7(ATP7A):c.1721C>G (p.Thr574Arg) rs782076879
NM_000052.7(ATP7A):c.1795C>G (p.Leu599Val) rs2149093539
NM_000052.7(ATP7A):c.1814A>G (p.His605Arg) rs1020034878
NM_000052.7(ATP7A):c.1870-3T>A rs1557234394
NM_000052.7(ATP7A):c.1885G>A (p.Ala629Thr) rs72554639
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.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.2219A>G (p.Lys740Arg) rs2077837209
NM_000052.7(ATP7A):c.2251G>A (p.Val751Met)
NM_000052.7(ATP7A):c.2263A>G (p.Thr755Ala)
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.2444T>C (p.Leu815Pro)
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.2570C>T (p.Pro857Leu) rs886044908
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.278C>G (p.Thr93Arg) rs539177302
NM_000052.7(ATP7A):c.2815G>A (p.Gly939Ser) rs1569550056
NM_000052.7(ATP7A):c.2963C>T (p.Ala988Val) rs2149104863
NM_000052.7(ATP7A):c.3028_3038delinsGTGGCTGTGGA (p.Thr1010_Met1013delinsValAlaValGlu) rs2149104906
NM_000052.7(ATP7A):c.3039G>A (p.Met1013Ile)
NM_000052.7(ATP7A):c.3044G>C (p.Gly1015Ala) rs2149104921
NM_000052.7(ATP7A):c.3071T>A (p.Ile1024Lys) rs797044648
NM_000052.7(ATP7A):c.3077T>C (p.Ile1026Thr) rs2149104943
NM_000052.7(ATP7A):c.3103G>A (p.Ala1035Thr) rs2077968562
NM_000052.7(ATP7A):c.3112-3C>T
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.3788C>G (p.Ser1263Cys) rs372066609
NM_000052.7(ATP7A):c.3812C>T (p.Thr1271Ile) rs932523090
NM_000052.7(ATP7A):c.3816G>C (p.Lys1272Asn) rs2149111723
NM_000052.7(ATP7A):c.392C>G (p.Pro131Arg)
NM_000052.7(ATP7A):c.3950C>A (p.Ala1317Asp) rs1569550334
NM_000052.7(ATP7A):c.3970G>A (p.Val1324Ile) rs782692001
NM_000052.7(ATP7A):c.4063A>G (p.Ile1355Val) rs1603391264
NM_000052.7(ATP7A):c.4094A>T (p.Tyr1365Phe) rs1569550339
NM_000052.7(ATP7A):c.4102G>A (p.Val1368Ile) rs782483019
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.4489G>A (p.Asp1497Asn)
NM_000052.7(ATP7A):c.47G>T (p.Gly16Val)
NM_000052.7(ATP7A):c.553T>A (p.Cys185Ser)
NM_000052.7(ATP7A):c.641T>C (p.Val214Ala)
NM_000052.7(ATP7A):c.686T>C (p.Ile229Thr) rs1557231750
NM_000052.7(ATP7A):c.729G>T (p.Lys243Asn) rs782326318
NM_000052.7(ATP7A):c.751G>A (p.Asp251Asn)
NM_000052.7(ATP7A):c.806G>A (p.Arg269Lys)
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.92G>A (p.Gly31Glu) rs1569549378
NM_000052.7(ATP7A):c.941A>G (p.Asn314Ser) rs1064797375
NM_000052.7(ATP7A):c.954_955delinsAT (p.Val319Leu)
NM_000052.7(ATP7A):c.961T>C (p.Tyr321His) rs2149083216

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