ClinVar Miner

List of variants reported as pathogenic for Transcobalamin II deficiency by Invitae

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Total variants: 4
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HGVS dbSNP
NC_000022.10:g.(?_31008840)_(31011794_?)del
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000355.4(TCN2):c.428-2_428-1del
NM_000355.4(TCN2):c.766dup (p.Ser256fs) rs1555895066

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