List of variants reported as pathogenic for Wilson disease by Mendelics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)	rs121907998	0.00041
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)	rs201738967	0.00025
NM_000053.4(ATP7B):c.1285+5G>T	rs370579582	0.00005
NM_000053.4(ATP7B):c.2762G>A (p.Ser921Asn)	rs1230241288	0.00001
NM_000053.4(ATP7B):c.51+4A>T	rs369488210	0.00001
NM_000053.4(ATP7B):c.2304del (p.Met769fs)	rs137853287
NM_000053.4(ATP7B):c.2575+1G>A	rs766149114
NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter)	rs1566498495
NM_000053.4(ATP7B):c.3061-12T>A	rs1045194246

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