ClinVar Miner

List of variants studied for Transcobalamin II deficiency by Genome-Nilou Lab

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000355.4(TCN2):c.776G>C (p.Arg259Pro) rs1801198 0.63049
NM_000355.4(TCN2):c.754-31T>C rs2267163 0.62008
NM_000355.4(TCN2):c.753+45_753+46del rs139588634 0.15721

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