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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NM_000053.3(ATP7B):c.3809A>G rs121907990
NM_000053.4(ATP7B):c.1605_1609dup (p.Ile537fs) rs886043238
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) rs753962912
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro) rs121908000
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser) rs137853285
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter) rs137853283
NM_000053.4(ATP7B):c.2532del (p.Val845fs) rs755709270
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met) rs72552255
NM_000053.4(ATP7B):c.3107dup (p.Arg1038fs) rs886043423
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr) rs60431989
NM_000053.4(ATP7B):c.3664del (p.Asp1222fs) rs886042519
NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter) rs786204578
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) rs572147914
NM_000053.4(ATP7B):c.915T>A (p.Cys305Ter) rs398123137

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