ClinVar Miner

List of variants studied for vitamin B12 deficiency by Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.1951C>G (p.Arg651Gly) rs182512508 0.00086
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671 0.00001
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171

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