ClinVar Miner

List of variants studied for Wilson disease by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00145
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter) rs193922109 0.00009
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718 0.00002
NM_000053.4(ATP7B):c.1907C>A (p.Pro636His) rs1593739354
NM_000053.4(ATP7B):c.2701A>G (p.Lys901Glu) rs1593695760

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