ClinVar Miner

List of variants in gene ATP7A studied for not specified

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Total variants: 65
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HGVS dbSNP gnomAD frequency
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.2299G>C (p.Val767Leu) rs2227291 0.24533
NM_000052.7(ATP7A):c.327G>A (p.Lys109=) rs61747968 0.00978
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.610+8G>A rs144616937 0.00506
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130 0.00500
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.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.3931A>G (p.Met1311Val) rs139781067 0.00058
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.3449T>C (p.Ile1150Thr) rs201225704 0.00018
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met) rs539177302 0.00012
NM_000052.7(ATP7A):c.2407-14G>T rs782184126 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.3565A>G (p.Ile1189Val) rs368917354 0.00007
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.3117G>T (p.Lys1039Asn) rs1057520234 0.00005
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val) rs369419911 0.00004
NM_000052.7(ATP7A):c.4227-1G>A rs782283173 0.00002
NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met) rs373634671 0.00001
NM_000052.7(ATP7A):c.1289C>T (p.Thr430Met) rs782018636 0.00001
NM_000052.7(ATP7A):c.1802C>A (p.Thr601Asn) rs371777895 0.00001
NM_000052.7(ATP7A):c.2071G>A (p.Glu691Lys) rs944415019 0.00001
NM_000052.7(ATP7A):c.3174A>G (p.Gln1058=) rs1057518370 0.00001
NM_000052.7(ATP7A):c.3416A>G (p.Asp1139Gly) rs782154314 0.00001
NM_000052.7(ATP7A):c.3532T>C (p.Tyr1178His) rs1139445 0.00001
NM_000052.7(ATP7A):c.3658+13A>G rs797045381 0.00001
NM_000052.7(ATP7A):c.3659-5A>G rs1557238245 0.00001
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys) rs782062633 0.00001
NM_000052.7(ATP7A):c.-22+13T>G rs563965187
NM_000052.7(ATP7A):c.-54T>C rs797045324
NM_000052.7(ATP7A):c.1013T>A (p.Val338Glu) rs797045326
NM_000052.7(ATP7A):c.1299A>T (p.Gly433=) rs797045328
NM_000052.7(ATP7A):c.1618C>G (p.Pro540Ala)
NM_000052.7(ATP7A):c.1707+6T>A rs797045334
NM_000052.7(ATP7A):c.1708-11G>T rs797045335
NM_000052.7(ATP7A):c.1758C>T (p.Leu586=) rs1557234088
NM_000052.7(ATP7A):c.1788C>T (p.Ser596=) rs368747913
NM_000052.7(ATP7A):c.2006T>C (p.Ile669Thr) rs2234935
NM_000052.7(ATP7A):c.2068G>C (p.Glu690Gln)
NM_000052.7(ATP7A):c.2106G>T (p.Glu702Asp) rs797045345
NM_000052.7(ATP7A):c.2131G>C (p.Val711Leu) rs782268170
NM_000052.7(ATP7A):c.2916+2402del rs371747549
NM_000052.7(ATP7A):c.3044G>C (p.Gly1015Ala) rs2149104921
NM_000052.7(ATP7A):c.3132T>C (p.Asp1044=) rs797045370
NM_000052.7(ATP7A):c.3278C>T (p.Thr1093Ile) rs996808810
NM_000052.7(ATP7A):c.3295-12_3295-3del rs1557237409
NM_000052.7(ATP7A):c.3295-6del rs1557237411
NM_000052.7(ATP7A):c.3337G>A (p.Val1113Ile) rs879254006
NM_000052.7(ATP7A):c.3778A>G (p.Thr1260Ala) rs1603390837
NM_000052.7(ATP7A):c.3902A>G (p.Asp1301Gly) rs1557238588
NM_000052.7(ATP7A):c.4048= (p.Lys1350=) rs4826245
NM_000052.7(ATP7A):c.4385C>G (p.Ala1462Gly)
NM_000052.7(ATP7A):c.972C>T (p.Ser324=) rs1002928416

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