ClinVar Miner

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

Included ClinVar conditions (26):
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu) rs121913578 0.00009
NM_052845.4(MMAB):c.562G>A (p.Val188Met) rs768176676 0.00005
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_018368.4(LMBRD1):c.562+1G>A rs372279393 0.00001
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln) rs200577967 0.00001
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) rs1029096863 0.00001
NM_000254.3(MTR):c.2406-1G>A
NM_000355.4(TCN2):c.3G>A (p.Met1Ile)
NM_000355.4(TCN2):c.64+4A>T
NM_001081.4(CUBN):c.3220T>A (p.Cys1074Ser)
NM_001081.4(CUBN):c.591C>G (p.Tyr197Ter)
NM_005142.3(CBLIF):c.395_396delinsAA (p.Phe132Ter)
NM_005334.3(HCFC1):c.481G>A (p.Asp161Asn)
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) rs796052000
NM_015506.3(MMACHC):c.352C>T (p.Gln118Ter) rs2149323575
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr) rs372010149
NM_015506.3(MMACHC):c.616del (p.Arg206fs) rs1163462384
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783
NM_015702.3(MMADHC):c.329A>G (p.Glu110Gly)
NM_016579.4(CD320):c.142G>C (p.Gly48Arg)
NM_030943.4(AMN):c.43+5G>A
NM_052845.4(MMAB):c.659T>C (p.Leu220Pro)
NM_172250.3(MMAA):c.821del

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