ClinVar Miner

List of variants in gene MTHFR reported as benign for homocystinuria due to methylene tetrahydrofolate reductase deficiency

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.1305C>T (p.Phe435=) rs4846051 0.90843
NM_005957.5(MTHFR):c.1752+146T>C rs7518348 0.90812
NM_005957.5(MTHFR):c.*372A>C rs4846049 0.63100
NM_005957.5(MTHFR):c.1166+31C>T rs1994798 0.56165
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.1753-48C>G rs3818762 0.22829
NM_005957.5(MTHFR):c.1632+35G>A rs1476413 0.22803
NM_005957.5(MTHFR):c.587-1332C>T rs17421511 0.12649
NM_005957.5(MTHFR):c.1056C>T (p.Ser352=) rs2066462 0.09546
NM_005957.5(MTHFR):c.117C>T (p.Pro39=) rs2066470 0.09092
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976 0.04451
NC_000001.11:g.11806126C>T rs13306560 0.03697
NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met) rs35737219 0.01399
NM_005957.5(MTHFR):c.1476G>A (p.Pro492=) rs35653697 0.00937
NM_005957.5(MTHFR):c.1264G>A (p.Gly422Arg) rs45571736 0.00300
NM_005957.5(MTHFR):c.348C>T (p.Ala116=) rs144921426 0.00217
NM_005957.5(MTHFR):c.276C>T (p.Asp92=) rs45546035 0.00201
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=) rs45572531 0.00190
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys) rs45496998 0.00178
NM_005957.5(MTHFR):c.1761C>T (p.Ala587=) rs115049252 0.00145
NM_005957.5(MTHFR):c.708C>T (p.Phe236=) rs34279942 0.00134
NM_005957.5(MTHFR):c.1347+20G>A rs201780607 0.00128
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) rs45449298 0.00118
NM_005957.5(MTHFR):c.417G>A (p.Thr139=) rs2066466 0.00106
NM_005957.5(MTHFR):c.732C>T (p.Thr244=) rs45486194 0.00082
NM_005957.5(MTHFR):c.1941C>A (p.Thr647=) rs139586522 0.00071
NM_005957.5(MTHFR):c.1032-6A>G rs2066464 0.00061
NM_005957.5(MTHFR):c.870C>T (p.Asn290=) rs141769179 0.00019
NM_005957.5(MTHFR):c.726A>G (p.Ala242=) rs45459991 0.00011
NM_005957.5(MTHFR):c.1626T>C (p.Asn542=) rs190046545 0.00005
NM_005957.5(MTHFR):c.1932C>A (p.Asn644Lys) rs200947520 0.00002
NM_005957.5(MTHFR):c.1632+14del rs2522832945
NM_005957.5(MTHFR):c.1633-18del rs759960805
NM_005957.5(MTHFR):c.1633-18dup rs759960805
NM_005957.5(MTHFR):c.1633-5dup rs2522819005
NM_005957.5(MTHFR):c.1752+16del rs2522816715
NM_005957.5(MTHFR):c.1753-14dup rs758514539

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.