List of variants in gene MTHFR reported as likely pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln)	rs754980119	0.00004
NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter)	rs140277700	0.00003
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln)	rs574132670	0.00003
NM_005957.5(MTHFR):c.1263G>C (p.Trp421Cys)	rs200688214	0.00001
NM_005957.5(MTHFR):c.1632+2T>G	rs749765738	0.00001
NM_005957.5(MTHFR):c.1A>G (p.Met1Val)	rs776734688	0.00001
NM_005957.5(MTHFR):c.1365G>A (p.Trp455Ter)	rs1553185497
NM_005957.5(MTHFR):c.1538T>G (p.Leu513Ter)	rs1553185069
NM_005957.5(MTHFR):c.202C>T (p.Arg68Ter)	rs763539350

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