ClinVar Miner

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

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Total variants: 23
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HGVS dbSNP gnomAD frequency
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.2531G>A (p.Arg844His) rs367775730 0.00009
NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe) rs372898963 0.00006
NM_000052.7(ATP7A):c.2499-7T>C rs782260332 0.00004
NM_000052.7(ATP7A):c.2582G>A (p.Arg861His) rs782174967 0.00003
NM_000052.7(ATP7A):c.1082C>T (p.Ser361Leu) rs782651571 0.00002
NM_000052.7(ATP7A):c.2948C>T (p.Thr983Met) rs782094358 0.00002
NM_000052.7(ATP7A):c.1211G>A (p.Gly404Asp) rs782000271 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.4310A>G (p.His1437Arg) rs1557239111 0.00001
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.1621A>G (p.Met541Val) rs1557233382
NM_000052.7(ATP7A):c.1885G>A (p.Ala629Thr) rs72554639
NM_000052.7(ATP7A):c.3039G>A (p.Met1013Ile)
NM_000052.7(ATP7A):c.3950C>A (p.Ala1317Asp) rs1569550334
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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