List of variants reported as pathogenic for Wilson disease by Revvity Omics, Revvity

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Total variants: 29

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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.2305A>G (p.Met769Val)	rs193922103	0.00015
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met)	rs72552255	0.00011
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)	rs374094065	0.00009
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter)	rs193922109	0.00009
NM_000053.4(ATP7B):c.2731-2A>G	rs367956522	0.00008
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln)	rs121907996	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.2332C>T (p.Arg778Trp)	rs137853284	0.00003
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)	rs750019452	0.00003
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)	rs121907990	0.00003
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)	rs756029120	0.00002
NM_000053.4(ATP7B):c.1708-1G>C	rs137853280	0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)	rs121907994	0.00001
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser)	rs761632029	0.00001
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr)	rs560952220	0.00001
NM_000053.4(ATP7B):c.1531C>T (p.Gln511Ter)	rs1449610384
NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer)	rs779904655
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs)	rs768729972
NM_000053.4(ATP7B):c.2304dup (p.Met769fs)	rs137853287
NM_000053.4(ATP7B):c.2513del (p.Lys838fs)	rs777362050
NM_000053.4(ATP7B):c.2997dup (p.Gly1000fs)	rs1957654399
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg)	rs786204483
NM_000053.4(ATP7B):c.3334_3335del (p.Ile1112fs)	rs2138851041
NM_000053.4(ATP7B):c.3805dup (p.Val1269fs)	rs2138580919
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe)	rs776848753
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)	rs572147914

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