ClinVar Miner

List of variants in gene ATP7B reported as likely benign by Illumina Clinical Services Laboratory,Illumina

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Gene type:
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Total variants: 12
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HGVS dbSNP
NM_000053.3(ATP7B):c.*1172G>A rs1051332
NM_000053.3(ATP7B):c.*1182C>T rs79490882
NM_000053.3(ATP7B):c.*1708A>G rs17076111
NM_000053.3(ATP7B):c.*1717G>T rs77770386
NM_000053.3(ATP7B):c.*190C>A rs115420019
NM_000053.3(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243
NM_000053.3(ATP7B):c.1366G>C (p.Val456Leu) rs1801244
NM_000053.3(ATP7B):c.2866-13G>C rs7325983
NM_000053.3(ATP7B):c.2973G>A (p.Thr991=) rs1801246
NM_000053.3(ATP7B):c.3009G>A (p.Ala1003=) rs1801247
NM_000053.3(ATP7B):c.3045G>A (p.Leu1015=) rs1801248
NM_000053.3(ATP7B):c.3620A>G (p.His1207Arg) rs7334118

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