ClinVar Miner

List of variants in gene ATP7B reported as likely pathogenic for not provided

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Total variants: 16
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HGVS dbSNP
NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs) rs1176709391
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val) rs587783301
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr) rs1057520235
NM_000053.4(ATP7B):c.2901del (p.Ile968fs) rs1064796054
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) rs774028495
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) rs193922104
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496
NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser) rs1131691741
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) rs121907999

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