List of variants in gene MTHFR reported by Department of Pathology and Laboratory Medicine, Sinai Health System

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)	rs1801133	0.27446
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)	rs1801131	0.25830
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.1555C>T (p.Arg519Cys)	rs45496998	0.00178
NM_005957.5(MTHFR):c.788A>C (p.His263Pro)	rs142612062	0.00076
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His)	rs543016186	0.00005
NM_005957.5(MTHFR):c.1070G>A (p.Arg357His)	rs977038830	0.00001
NM_005957.5(MTHFR):c.469C>T (p.Arg157Trp)	rs776195746	0.00001
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)

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