ClinVar Miner

List of variants studied for Wilson disease by OMIM

Included ClinVar conditions (1):
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Total variants: 23
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ATP7B, 1-BP DEL, 2337C
ATP7B, 1-BP DEL, 2511A
ATP7B, 1-BP INS, NT2487
ATP7B, 15-BP DEL, NT-441
ATP7B, 3-BP DEL, 3892GTC
ATP7B, 7-BP DEL, NT2010
NM_000053.3(ATP7B):c.3809A>G rs121907990
NM_000053.4(ATP7B):c.1708-1G>C rs137853280
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg) rs121908001
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro) rs121908000
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn) rs28942075
NM_000053.4(ATP7B):c.2297C>G (p.Thr766Arg) rs121907997
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994
NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly) rs121907993
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) rs28942076
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln) rs121907996
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr) rs60431989
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) rs121907999

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