List of variants studied for Neural tube defects, folate-sensitive; Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_005956.4(MTHFD1):c.983C>T (p.Pro328Leu)	rs147367593	0.00099
NM_005956.4(MTHFD1):c.1390A>G (p.Ile464Val)	rs139264994	0.00017
NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe)	rs370444838	0.00011
NM_005956.4(MTHFD1):c.1096C>T (p.Arg366Trp)	rs139612806	0.00008
NM_005956.4(MTHFD1):c.1913C>T (p.Pro638Leu)	rs149492308	0.00007
NM_005956.4(MTHFD1):c.109C>T (p.Arg37Cys)	rs111509453	0.00006
NM_005956.4(MTHFD1):c.2584A>G (p.Ile862Val)	rs746400551	0.00002
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)	rs747933171
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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