List of variants reported as likely pathogenic for combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia by Fulgent Genetics, Fulgent Genetics

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Total variants: 8

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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.298C>T (p.Gln100Ter)	rs1329424461	0.00001
NM_005956.4(MTHFD1):c.727+1G>A	rs781065280	0.00001
NM_005956.4(MTHFD1):c.153_154del (p.Ile53fs)
NM_005956.4(MTHFD1):c.1755_1756del (p.Arg585fs)
NM_005956.4(MTHFD1):c.253dup (p.Ile85fs)
NM_005956.4(MTHFD1):c.428_429del (p.Cys143fs)
NM_005956.4(MTHFD1):c.731dup (p.Asp244fs)

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