List of variants reported as pathogenic for Wilson disease by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)	rs191312027	0.00101
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)	rs76151636	0.00100
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter)	rs193922109	0.00009
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter)	rs121907999	0.00003
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln)	rs752850609	0.00001
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)	rs28942076	0.00001
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs)	rs749363958

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