ClinVar Miner

List of variants in gene ATP7A studied for not provided

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Total variants: 85
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HGVS dbSNP
NM_000052.7(ATP7A):c.-22+117T>C
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.1030A>G (p.Arg344Gly) rs782196306
NM_000052.7(ATP7A):c.1040T>C (p.Ile347Thr) rs368982547
NM_000052.7(ATP7A):c.1082C>T (p.Ser361Leu) rs782651571
NM_000052.7(ATP7A):c.1142T>G (p.Ile381Arg) rs1057522517
NM_000052.7(ATP7A):c.120+194A>G
NM_000052.7(ATP7A):c.120+5G>A rs1569549379
NM_000052.7(ATP7A):c.1205del (p.Lys402fs) rs398123133
NM_000052.7(ATP7A):c.121-2del rs1287511385
NM_000052.7(ATP7A):c.1251G>T (p.Gly417=)
NM_000052.7(ATP7A):c.1306G>A (p.Glu436Lys) rs782717793
NM_000052.7(ATP7A):c.1375T>C (p.Ser459Pro) rs374530062
NM_000052.7(ATP7A):c.142G>A (p.Ala48Thr) rs1557231562
NM_000052.7(ATP7A):c.1435C>T (p.Gln479Ter) rs1569549695
NM_000052.7(ATP7A):c.1534C>T (p.Arg512Trp) rs1030215501
NM_000052.7(ATP7A):c.1543+9C>G
NM_000052.7(ATP7A):c.1588G>A (p.Val530Ile) rs398123134
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.1630G>C (p.Glu544Gln) rs782491733
NM_000052.7(ATP7A):c.1707+6_1707+9del rs879253938
NM_000052.7(ATP7A):c.1721C>G (p.Thr574Arg) rs782076879
NM_000052.7(ATP7A):c.1722G>A (p.Thr574=)
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.177A>G (p.Pro59=) rs142463642
NM_000052.7(ATP7A):c.1870-3T>A rs1557234394
NM_000052.7(ATP7A):c.1892T>C (p.Leu631Ser) rs876661241
NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe) rs372898963
NM_000052.7(ATP7A):c.1906C>T (p.Arg636Trp) rs1057523112
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000052.7(ATP7A):c.1934G>A (p.Arg645Gln) rs782729433
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563
NM_000052.7(ATP7A):c.1974_1977dup (p.Phe660fs) rs886044769
NM_000052.7(ATP7A):c.1993A>C (p.Met665Leu) rs879254156
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150
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.2375C>T (p.Ala792Val) rs782770209
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.2499-7T>C rs782260332
NM_000052.7(ATP7A):c.2570C>T (p.Pro857Leu) rs886044908
NM_000052.7(ATP7A):c.2694del (p.Ser899fs) rs886044881
NM_000052.7(ATP7A):c.278C>G (p.Thr93Arg) rs539177302
NM_000052.7(ATP7A):c.2867G>A (p.Trp956Ter) rs67273048
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000052.7(ATP7A):c.2924A>G (p.Asn975Ser) rs1557236698
NM_000052.7(ATP7A):c.2939G>A (p.Arg980Gln) rs1057522925
NM_000052.7(ATP7A):c.2957G>A (p.Arg986Gln) rs781995242
NM_000052.7(ATP7A):c.3013G>A (p.Gly1005Arg) rs1569550143
NM_000052.7(ATP7A):c.3071T>A (p.Ile1024Lys) rs797044648
NM_000052.7(ATP7A):c.3112G>A (p.Val1038Ile) rs181435872
NM_000052.7(ATP7A):c.3137C>T (p.Thr1046Ile) rs1064796648
NM_000052.7(ATP7A):c.3294+907C>T
NM_000052.7(ATP7A):c.3337G>A (p.Val1113Ile) rs879254006
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr) rs201225704
NM_000052.7(ATP7A):c.3521A>T (p.Asn1174Ile) rs876661235
NM_000052.7(ATP7A):c.3659-257G>C
NM_000052.7(ATP7A):c.3788C>G (p.Ser1263Cys) rs372066609
NM_000052.7(ATP7A):c.3802-1G>T rs398123135
NM_000052.7(ATP7A):c.3812del (p.Thr1271fs) rs1557238569
NM_000052.7(ATP7A):c.3863A>G (p.Gln1288Arg) rs375788705
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.3915_3921del (p.Asp1305fs) rs1557238590
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.4006A>G (p.Asn1336Asp) rs146651049
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) rs370736173
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.4123+288A>G
NM_000052.7(ATP7A):c.4226+48A>G
NM_000052.7(ATP7A):c.4310A>G (p.His1437Arg) rs1557239111
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=) rs371939448
NM_000052.7(ATP7A):c.4425C>A (p.Asn1475Lys) rs1557239142
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) rs151340633
NM_000052.7(ATP7A):c.610+108G>A
NM_000052.7(ATP7A):c.673A>G (p.Met225Val) rs782619990
NM_000052.7(ATP7A):c.686T>C (p.Ile229Thr) rs1557231750
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr) rs150526992
NM_000052.7(ATP7A):c.941A>G (p.Asn314Ser) rs1064797375

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