ClinVar Miner

List of variants reported as pathogenic for Wilson disease by Mendelics

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 5
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NM_000053.4(ATP7B):c.2304del (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2575+1G>A rs766149114
NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter) rs1566498495
NM_000053.4(ATP7B):c.3061-12T>A rs1045194246
NM_000053.4(ATP7B):c.51+4A>T rs369488210

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