ClinVar Miner

List of variants in gene ATP7B reported as likely pathogenic by Integrated Genetics/Laboratory Corporation of America

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Gene type:
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Total variants: 18
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HGVS dbSNP
NM_000053.4(ATP7B):c.1820dup (p.Phe608fs) rs1057516940
NM_000053.4(ATP7B):c.1946+6T>C rs751287778
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2122-8T>G rs193922102
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met) rs121907997
NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter) rs770020484
NM_000053.4(ATP7B):c.2575+1G>C rs766149114
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
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.3036dup (p.Lys1013fs) rs1555287300
NM_000053.4(ATP7B):c.3298_3300delinsAGTGCCAGGCAGTGCCA (p.Cys1100fs) rs1566468816
NM_000053.4(ATP7B):c.3301_3302insCCAGGCAGTGCCAG (p.Gly1101fs) rs1566468784
NM_000053.4(ATP7B):c.3556+1G>A rs184388696
NM_000053.4(ATP7B):c.3556+1G>T rs184388696
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter) rs911589273

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