List of variants in gene MTHFR reported as uncertain significance for Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Neural tube defects, folate-sensitive; Schizophrenia; Thrombophilia due to thrombin defect

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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: 14

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HGVS	dbSNP	gnomAD frequency
NM_005957.5(MTHFR):c.1408G>C (p.Glu470Gln)	rs139645527	0.00242
NM_005957.5(MTHFR):c.1409A>T (p.Glu470Val)	rs142617551	0.00183
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)	rs45449298	0.00118
NM_005957.5(MTHFR):c.788A>C (p.His263Pro)	rs142612062	0.00076
NM_005957.5(MTHFR):c.203G>A (p.Arg68Gln)	rs2066472	0.00031
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val)	rs200100285	0.00026
NM_005957.5(MTHFR):c.1720G>A (p.Val574Ile)	rs202153689	0.00015
NM_005957.5(MTHFR):c.151C>T (p.Arg51Trp)	rs764131110	0.00003
NM_005957.5(MTHFR):c.1064C>T (p.Pro355Leu)	rs794727869
NM_005957.5(MTHFR):c.112G>C (p.Asp38His)
NM_005957.5(MTHFR):c.1408_1409delinsCT (p.Glu470Leu)	rs886043349
NM_005957.5(MTHFR):c.1477T>A (p.Ser493Thr)
NM_005957.5(MTHFR):c.875C>T (p.Ala292Val)
NM_005957.5(MTHFR):c.976G>A (p.Glu326Lys)

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