ClinVar Miner

List of variants reported as benign for Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia by Genome-Nilou Lab

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005956.4(MTHFD1):c.401A>G (p.Lys134Arg)	rs1950902	0.82895
NM_005956.4(MTHFD1):c.1958G>A (p.Arg653Gln)	rs2236225	0.38175
NM_005956.4(MTHFD1):c.2136+31G>A	rs2236224	0.32907

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