ClinVar Miner

List of variants in gene MTHFR reported as likely benign by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976 0.04451
NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met) rs35737219 0.01399
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.708C>T (p.Phe236=) rs34279942 0.00134
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) rs45449298 0.00118
NM_005957.5(MTHFR):c.-13-9C>T rs34889587 0.00090
NM_005957.5(MTHFR):c.732C>T (p.Thr244=) rs45486194 0.00082
NM_005957.5(MTHFR):c.1625A>C (p.Asn542Thr) rs145641996 0.00073
NM_005957.5(MTHFR):c.1392C>T (p.Thr464=) rs79157191 0.00064
NM_005957.5(MTHFR):c.1032-6A>G rs2066464 0.00061
NM_005957.5(MTHFR):c.1719C>T (p.Thr573=) rs149585376 0.00029
NM_005957.5(MTHFR):c.1281T>C (p.Ser427=) rs149533586 0.00027
NM_005957.5(MTHFR):c.780+3G>A rs369259702 0.00022
NM_005957.5(MTHFR):c.513C>A (p.Gly171=) rs150963282 0.00019
NM_005957.5(MTHFR):c.1401G>A (p.Leu467=) rs146554888 0.00014
NM_005957.5(MTHFR):c.762C>T (p.Pro254=) rs200789362 0.00014
NM_005957.5(MTHFR):c.1932C>A (p.Asn644Lys) rs200947520 0.00002
NM_005957.5(MTHFR):c.-13-284T>C rs1424439878 0.00001
NM_005957.5(MTHFR):c.1158C>T (p.Asn386=) rs764444752 0.00001
NM_005957.5(MTHFR):c.-13-380C>T rs13306558
NM_005957.5(MTHFR):c.1753-25TG[2] rs751611452
NM_005957.5(MTHFR):c.465G>T (p.Ala155=) rs566125423
NM_005957.5(MTHFR):c.781-7T>C rs1570476002

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.