ClinVar Miner

List of variants studied for vitamin B12 deficiency by UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242 0.00011
NM_000355.4(TCN2):c.10C>T (p.Leu4Phe) rs572942248 0.00002

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