List of variants reported as pathogenic for Wilson disease by OMIM

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)	rs76151636	0.00100
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)	rs121907998	0.00041
NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly)	rs121907993	0.00013
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)	rs28942074	0.00010
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln)	rs121907996	0.00006
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)	rs121907992	0.00006
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro)	rs121908000	0.00005
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr)	rs60431989	0.00004
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)	rs121907990	0.00003
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter)	rs121907999	0.00003
NM_000053.4(ATP7B):c.1708-1G>C	rs137853280	0.00001
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn)	rs28942075	0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)	rs121907994	0.00001
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)	rs28942076	0.00001
NM_000053.3(ATP7B):c.[3443T>C;3526G>A]
NM_000053.4(ATP7B):c.-436_-422del	rs1484840087
NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer)	rs779904655
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg)	rs121908001
NM_000053.4(ATP7B):c.2297C>G (p.Thr766Arg)	rs121907997
NM_000053.4(ATP7B):c.2513del (p.Lys838fs)	rs777362050
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs)	rs137853281
NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter)	rs748924063
NM_000053.4(ATP7B):c.3889GTC[1] (p.Val1298del)	rs2138570625

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