ClinVar Miner

List of variants in gene ATP7B reported as likely pathogenic by Invitae

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Total variants: 13
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HGVS dbSNP
NC_000013.10:g.(?_52511392)_(52513349_?)del
NM_000053.3(ATP7B):c.-676A>G rs1021025464
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His) rs72552285
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala) rs1555291285
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly) rs1555291147
NM_000053.4(ATP7B):c.2355+4A>G rs776572343
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.3079G>C (p.Asp1027His)
NM_000053.4(ATP7B):c.3243+2T>C
NM_000053.4(ATP7B):c.3284A>C (p.Gln1095Pro) rs1555285891

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