List of variants reported as likely pathogenic for Transcobalamin II deficiency

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs)	rs778381859
NM_000355.4(TCN2):c.258-1G>A
NM_000355.4(TCN2):c.428-2A>G	rs2087581122
NM_000355.4(TCN2):c.580+1G>C
NM_000355.4(TCN2):c.65-1_65delinsTT	rs2145536487
NM_000355.4(TCN2):c.700del (p.Gln234fs)	rs2087597945
NM_000355.4(TCN2):c.941-2A>G

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