ClinVar Miner

List of variants reported as likely pathogenic for Wilson disease by Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)	rs201038679	0.00001
NM_000053.4(ATP7B):c.3168del (p.Leu1057fs)	rs2138950870
NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly)	rs778914828

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