List of variants in gene MTHFD1 reported as uncertain significance for combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_005956.4(MTHFD1):c.878G>A (p.Arg293His)	rs34181110	0.00241
NM_005956.4(MTHFD1):c.983C>T (p.Pro328Leu)	rs147367593	0.00103
NM_005956.4(MTHFD1):c.1390A>G (p.Ile464Val)	rs139264994	0.00019
NM_005956.4(MTHFD1):c.1096C>T (p.Arg366Trp)	rs139612806	0.00009
NM_005956.4(MTHFD1):c.109C>T (p.Arg37Cys)	rs111509453	0.00006
NM_005956.4(MTHFD1):c.1913C>T (p.Pro638Leu)	rs149492308	0.00006
NM_005956.4(MTHFD1):c.1171A>G (p.Ile391Val)	rs527485062	0.00004
NM_005956.4(MTHFD1):c.1493A>C (p.Lys498Thr)	rs864309594
NM_005956.4(MTHFD1):c.1843_1844dup (p.Met615fs)
NM_005956.4(MTHFD1):c.240+9T>C
NM_005956.4(MTHFD1):c.881T>C (p.Phe294Ser)

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