ClinVar Miner

List of variants reported as uncertain significance for Wilson disease by CSER _CC_NCGL, University of Washington

Included ClinVar conditions (1):

Wilson disease

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg)	rs74085882	0.00400
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)	rs138427376	0.00329
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)	rs199821556	0.00017

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