ClinVar Miner

List of variants reported as uncertain significance for Wilson disease by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)	rs200911496	0.00048
NM_000053.4(ATP7B):c.2060A>T (p.Asn687Ile)
NM_000053.4(ATP7B):c.3323A>C (p.Asn1108Thr)

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