ClinVar Miner

List of variants reported as likely pathogenic for Wilson disease by Invitae

Included ClinVar conditions (1):
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Total variants: 17
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HGVS dbSNP
NC_000013.11:g.(?_51937256)_(51939213_?)del
NM_000053.3(ATP7B):c.-676A>G rs1021025464
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp)
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His) rs72552285
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala) rs1555291285
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly) rs1555291147
NM_000053.4(ATP7B):c.2355+4A>G rs776572343
NM_000053.4(ATP7B):c.2486A>G (p.Asp829Gly) rs1566503575
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718
NM_000053.4(ATP7B):c.2784_2786CAT[2] (p.Ile930del)
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) rs371840514
NM_000053.4(ATP7B):c.3061-2A>G
NM_000053.4(ATP7B):c.3079G>C (p.Asp1027His) rs1593672840
NM_000053.4(ATP7B):c.3243+2T>C rs1593671769
NM_000053.4(ATP7B):c.3284A>C (p.Gln1095Pro) rs1555285891

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