List of variants in gene MTHFR reported as likely pathogenic for inherited thrombophilia

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile)	rs373076763	0.00021
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His)	rs543016186	0.00005
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)	rs767890671	0.00005
NM_005957.5(MTHFR):c.1130G>A (p.Arg377His)	rs750323424	0.00004
NM_005957.5(MTHFR):c.1320G>A (p.Ser440=)	rs367585605	0.00004
NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter)	rs140277700	0.00003
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln)	rs121434295	0.00002
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys)	rs371085894	0.00002
NM_005957.5(MTHFR):c.1316T>C (p.Leu439Pro)	rs545086633	0.00001
NM_005957.5(MTHFR):c.1604G>A (p.Arg535Gln)	rs773360881	0.00001
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met)	rs1057519360	0.00001
NM_005957.5(MTHFR):c.968T>C (p.Leu323Pro)	rs121434297	0.00001
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del)	rs1297161027
NM_005957.5(MTHFR):c.1429C>T (p.Gln477Ter)
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs)	rs764338697
NM_005957.5(MTHFR):c.236+1G>A	rs1057519359
NM_005957.5(MTHFR):c.727T>G (p.Cys243Gly)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.