ClinVar Miner

List of variants in gene ATP7B reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Total variants: 16
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HGVS dbSNP
NM_000053.3(ATP7B):c.-54G>T rs115564351
NM_000053.3(ATP7B):c.19_20delCA (p.Gln7Aspfs) rs749363958
NM_000053.3(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.3(ATP7B):c.3106G>A (p.Val1036Ile) rs761147984
NM_000053.3(ATP7B):c.347T>C (p.Ile116Thr) rs199773340
NM_000053.3(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704
NM_000053.3(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972
NM_000053.3(ATP7B):c.670A>T (p.Ile224Phe) rs200563529
NM_001005918.2(ATP7B):c.-116G>A
NM_001005918.2(ATP7B):c.1595A>G (p.Tyr532Cys)
NM_001005918.2(ATP7B):c.1829C>T (p.Pro610Leu) rs368381292
NM_001005918.2(ATP7B):c.2222T>G (p.Val741Gly)
NM_001005918.2(ATP7B):c.226A>G (p.Ile76Val)
NM_001005918.2(ATP7B):c.352G>A (p.Asp118Asn) rs769655497
NM_001005918.2(ATP7B):c.3669delG (p.Ser1224Profs) rs1555282185
NM_001005918.2(ATP7B):c.496C>T (p.Arg166Trp)

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