ClinVar Miner

List of variants in gene ATP7A reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 61
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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.1009G>A (p.Ala337Thr) rs138039591 0.00069
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.2452A>G (p.Thr818Ala) rs201788154 0.00039
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.1737A>G (p.Val579=) rs189353691 0.00015
NM_000052.7(ATP7A):c.3153C>T (p.His1051=) rs142998552 0.00014
NM_000052.7(ATP7A):c.3621G>A (p.Glu1207=) rs141535376 0.00013
NM_000052.7(ATP7A):c.1138G>A (p.Val380Met) rs149523862 0.00012
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys) rs374162669 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.2531G>A (p.Arg844His) rs367775730 0.00009
NM_000052.7(ATP7A):c.922A>G (p.Ile308Val) rs782351352 0.00008
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.3480G>A (p.Ser1160=) rs144293453 0.00005
NM_000052.7(ATP7A):c.2499-7T>C rs782260332 0.00004
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile) rs782702847 0.00003
NM_000052.7(ATP7A):c.2582G>A (p.Arg861His) rs782174967 0.00003
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val) rs782237314 0.00003
NM_000052.7(ATP7A):c.1082C>T (p.Ser361Leu) rs782651571 0.00002
NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg) rs782664014 0.00002
NM_000052.7(ATP7A):c.2948C>T (p.Thr983Met) rs782094358 0.00002
NM_000052.7(ATP7A):c.317C>T (p.Thr106Ile) rs782647620 0.00002
NM_000052.7(ATP7A):c.3434C>T (p.Ala1145Val) rs374154862 0.00002
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe) rs782364202 0.00002
NM_000052.7(ATP7A):c.1211G>A (p.Gly404Asp) rs782000271 0.00001
NM_000052.7(ATP7A):c.1252A>T (p.Thr418Ser) rs782505393 0.00001
NM_000052.7(ATP7A):c.1384C>G (p.Pro462Ala) rs781964005 0.00001
NM_000052.7(ATP7A):c.2375C>T (p.Ala792Val) rs782770209 0.00001
NM_000052.7(ATP7A):c.2565A>G (p.Lys855=) rs1557235088 0.00001
NM_000052.7(ATP7A):c.2581C>T (p.Arg861Cys) rs781892236 0.00001
NM_000052.7(ATP7A):c.2687A>G (p.Gln896Arg) rs1324162252 0.00001
NM_000052.7(ATP7A):c.4310A>G (p.His1437Arg) rs1557239111 0.00001
NM_000052.7(ATP7A):c.514G>A (p.Val172Met) rs782248978 0.00001
NC_000023.11:g.77910214G>C
NC_000023.11:g.77910249G>A
NM_000052.7(ATP7A):c.1083A>C (p.Ser361=)
NM_000052.7(ATP7A):c.1142T>A (p.Ile381Lys)
NM_000052.7(ATP7A):c.1326T>C (p.Ala442=) rs2149083467
NM_000052.7(ATP7A):c.1483A>G (p.Thr495Ala) rs2149087878
NM_000052.7(ATP7A):c.1592G>T (p.Arg531Met) rs782048861
NM_000052.7(ATP7A):c.1602T>G (p.Pro534=)
NM_000052.7(ATP7A):c.1621A>G (p.Met541Val) rs1557233382
NM_000052.7(ATP7A):c.1770A>G (p.Arg590=)
NM_000052.7(ATP7A):c.1877G>A (p.Gly626Asp)
NM_000052.7(ATP7A):c.1885G>A (p.Ala629Thr) rs72554639
NM_000052.7(ATP7A):c.2669T>C (p.Ile890Thr) rs2149099646
NM_000052.7(ATP7A):c.3039G>A (p.Met1013Ile)
NM_000052.7(ATP7A):c.3529C>T (p.Gln1177Ter) rs2078030343
NM_000052.7(ATP7A):c.3950C>A (p.Ala1317Asp) rs1569550334
NM_000052.7(ATP7A):c.3969T>C (p.Asp1323=) rs369114635
NM_000052.7(ATP7A):c.4063A>G (p.Ile1355Val) rs1603391264
NM_000052.7(ATP7A):c.47G>T (p.Gly16Val)
NM_000052.7(ATP7A):c.806G>A (p.Arg269Lys)
NM_000052.7(ATP7A):c.941A>G (p.Asn314Ser) rs1064797375

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