ClinVar Miner

List of variants in gene ATP7A reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597 0.00750
NM_000052.7(ATP7A):c.3658+13A>G rs797045381 0.00001
NM_000052.7(ATP7A):c.-54T>C rs797045324
NM_000052.7(ATP7A):c.1299A>T (p.Gly433=) rs797045328
NM_000052.7(ATP7A):c.1707+6T>A rs797045334
NM_000052.7(ATP7A):c.1708-11G>T rs797045335
NM_000052.7(ATP7A):c.2106G>T (p.Glu702Asp) rs797045345
NM_000052.7(ATP7A):c.3295-12_3295-3del rs1557237409

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