ClinVar Miner

List of variants reported as benign for vitamin B12 deficiency by Mendelics

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000355.4(TCN2):c.776G>C (p.Arg259Pro) rs1801198 0.63049
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593 0.57816
NM_005050.4(ABCD4):c.184T>C (p.Leu62=) rs2301345 0.29779
NM_000355.4(TCN2):c.643C>T (p.Arg215Trp) rs35838082 0.07162
NM_000254.3(MTR):c.*16del rs67705775
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171

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