List of variants reported as likely pathogenic for Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia

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Total variants: 6

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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.152T>C (p.Leu51Pro)	rs1555336810
NM_005956.4(MTHFD1):c.2280-1G>T
NM_005956.4(MTHFD1):c.479-2A>G	rs999121868
NM_005956.4(MTHFD1):c.806C>T (p.Thr269Ile)	rs1555337681

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