ClinVar Miner

List of variants reported as uncertain significance for Wilson disease by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00151
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00145
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met) rs368545738 0.00010
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) rs751202110 0.00003
NM_000053.4(ATP7B):c.3589G>A (p.Ala1197Thr) rs758025913 0.00003
NM_000053.4(ATP7B):c.3434C>G (p.Ser1145Cys) rs754759064 0.00001
NM_000053.4(ATP7B):c.365A>G (p.Glu122Gly) rs1452064392 0.00001
NM_000053.4(ATP7B):c.431T>C (p.Val144Ala) rs547221110 0.00001
NM_000053.4(ATP7B):c.1460C>A (p.Pro487Gln) rs767312670
NM_000053.4(ATP7B):c.1544-3C>G
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2212A>C (p.Ser738Arg) rs2547715779
NM_000053.4(ATP7B):c.254G>C (p.Gly85Ala) rs786204643
NM_000053.4(ATP7B):c.2759T>G (p.Phe920Cys) rs754990925
NM_000053.4(ATP7B):c.2837A>T (p.Asp946Val) rs2139186921
NM_000053.4(ATP7B):c.2842G>A (p.Gly948Ser)
NM_000053.4(ATP7B):c.3707T>C (p.Ile1236Thr) rs2547569881
NM_000053.4(ATP7B):c.3832G>A (p.Ala1278Thr)
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly) rs557577836

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