List of variants reported as likely pathogenic for vitamin B12 deficiency by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_052845.4(MMAB):c.562G>A (p.Val188Met)	rs768176676	0.00005
NM_018368.4(LMBRD1):c.562+1G>A	rs372279393	0.00001
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)	rs200577967	0.00001
NM_000254.3(MTR):c.2406-1G>A
NM_005142.3(CBLIF):c.395_396delinsAA (p.Phe132Ter)
NM_015506.3(MMACHC):c.616del (p.Arg206fs)	rs1163462384
NM_030943.4(AMN):c.43+5G>A
NM_172250.3(MMAA):c.821del

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