ClinVar Miner

List of variants studied for Wilson disease by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000053.4(ATP7B):c.383del (p.Gly128fs) rs797045083

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