ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP
NM_000355.4(TCN2):c.427+2T>G rs606231119
NM_000355.4(TCN2):c.581-176A>T rs372866837
NM_000355.4(TCN2):c.927_930del (p.Cys309fs) rs1157135425
TCN2, 2,152-BP DEL AND 4-BP INS

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