ClinVar Miner

List of variants in gene ATP7B reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 17
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HGVS dbSNP
NM_000053.3(ATP7B):c.1609_1610insGGTCA (p.Ile537Argfs) rs886043238
NM_000053.3(ATP7B):c.1745_1746delTA (p.Ile582Argfs) rs753962912
NM_000053.3(ATP7B):c.2123T>C (p.Leu708Pro) rs121908000
NM_000053.3(ATP7B):c.2128G>A (p.Gly710Ser) rs137853285
NM_000053.3(ATP7B):c.2305A>G (p.Met769Val) rs193922103
NM_000053.3(ATP7B):c.2336G>A (p.Trp779Ter) rs137853283
NM_000053.3(ATP7B):c.2532delA (p.Val845Serfs) rs755709270
NM_000053.3(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.3(ATP7B):c.2930C>T (p.Thr977Met) rs72552255
NM_000053.3(ATP7B):c.3107dupT (p.Arg1038Glnfs) rs886043423
NM_000053.3(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000053.3(ATP7B):c.3443T>C (p.Ile1148Thr) rs60431989
NM_000053.3(ATP7B):c.3664delG (p.Asp1222Thrfs) rs886042519
NM_000053.3(ATP7B):c.3809A>G rs121907990
NM_000053.3(ATP7B):c.4051C>T (p.Gln1351Ter) rs786204578
NM_000053.3(ATP7B):c.813C>A (p.Cys271Ter) rs572147914
NM_000053.3(ATP7B):c.915T>A (p.Cys305Ter) rs398123137

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