ClinVar Miner

List of variants studied for combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe) rs370444838 0.00011
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys) rs141210410 0.00007
NM_005956.4(MTHFD1):c.673G>T (p.Glu225Ter) rs760889414 0.00002
NM_005956.4(MTHFD1):c.152T>C (p.Leu51Pro) rs1555336810
NM_005956.4(MTHFD1):c.806C>T (p.Thr269Ile) rs1555337681

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