ClinVar Miner

List of variants in gene ATP7B reported as uncertain significance for not specified

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Total variants: 31
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HGVS dbSNP
NM_000053.3(ATP7B):c.-54G>T rs115564351
NM_000053.3(ATP7B):c.1129A>G (p.Ile377Val) rs775754066
NM_000053.3(ATP7B):c.1158G>T (p.Gly386=)
NM_000053.3(ATP7B):c.1298C>G (p.Thr433Ser)
NM_000053.3(ATP7B):c.1762A>C (p.Arg588=)
NM_000053.3(ATP7B):c.1869+20A>G
NM_000053.3(ATP7B):c.1947-4C>T rs74904335
NM_000053.3(ATP7B):c.1965G>T (p.Leu655=)
NM_000053.3(ATP7B):c.2028C>T (p.Asn676=)
NM_000053.3(ATP7B):c.2078C>A (p.Ser693Tyr)
NM_000053.3(ATP7B):c.2184C>G (p.Asn728Lys)
NM_000053.3(ATP7B):c.2448-11G>A rs200450017
NM_000053.3(ATP7B):c.2859C>T (p.Tyr953=)
NM_000053.3(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.3(ATP7B):c.3021C>A (p.Ile1007=)
NM_000053.3(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.3(ATP7B):c.3298T>A (p.Cys1100Ser)
NM_000053.3(ATP7B):c.3422C>G (p.Pro1141Arg) rs757549770
NM_000053.3(ATP7B):c.3557-6C>T rs140708492
NM_000053.3(ATP7B):c.3671G>T (p.Arg1224Leu)
NM_000053.3(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496
NM_000053.3(ATP7B):c.3700G>T (p.Val1234Phe) rs193922108
NM_000053.3(ATP7B):c.3749C>G (p.Ala1250Gly)
NM_000053.3(ATP7B):c.3863C>T (p.Thr1288Met) rs373748155
NM_000053.3(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704
NM_000053.3(ATP7B):c.4251A>G (p.Thr1417=)
NM_000053.3(ATP7B):c.4361T>C (p.Leu1454Pro) rs377492122
NM_000053.3(ATP7B):c.670A>T (p.Ile224Phe) rs200563529
NM_001005918.2(ATP7B):c.1829C>T (p.Pro610Leu) rs368381292
NM_001005918.2(ATP7B):c.352G>A (p.Asp118Asn) rs769655497
NM_001005918.2(ATP7B):c.3669delG (p.Ser1224Profs) rs1555282185

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