ClinVar Miner

List of variants reported as likely pathogenic for Wilson disease by Hadassah Hebrew University Medical Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)	rs755554442	0.00004
NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr)	rs755817220	0.00001

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