ClinVar Miner

List of variants reported as likely pathogenic for COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA

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Total variants: 4
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HGVS dbSNP
NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe) rs370444838
NM_005956.4(MTHFD1):c.152T>C (p.Leu51Pro) rs1555336810
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys) rs141210410
NM_005956.4(MTHFD1):c.806C>T (p.Thr269Ile) rs1555337681

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