ClinVar Miner

List of variants studied for combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia by Genome-Nilou Lab

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005956.4(MTHFD1):c.401A>G (p.Lys134Arg) rs1950902 0.82707
NM_005956.4(MTHFD1):c.1958G>A (p.Arg653Gln) rs2236225 0.38175
NM_005956.4(MTHFD1):c.2136+31G>A rs2236224 0.32387

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