ClinVar Miner

List of variants in gene MTHFR reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 141
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile) rs373076763 0.00021
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00011
NM_005957.5(MTHFR):c.136C>T (p.Arg46Trp) rs138189536 0.00008
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His) rs543016186 0.00004
NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys) rs121434296 0.00004
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.155G>A (p.Arg52Gln) rs754980119 0.00004
NM_005957.5(MTHFR):c.137G>A (p.Arg46Gln) rs776483190 0.00003
NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter) rs140277700 0.00003
NM_005957.5(MTHFR):c.1743G>A (p.Met581Ile) rs45590836 0.00003
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln) rs121434295 0.00002
NM_005957.5(MTHFR):c.1013T>C (p.Met338Thr) rs368321176 0.00001
NM_005957.5(MTHFR):c.1033C>T (p.Arg345Cys) rs759031330 0.00001
NM_005957.5(MTHFR):c.1069C>T (p.Arg357Cys) rs779993607 0.00001
NM_005957.5(MTHFR):c.1072C>T (p.Arg358Ter) rs377443637 0.00001
NM_005957.5(MTHFR):c.1088G>A (p.Arg363His) rs786204023 0.00001
NM_005957.5(MTHFR):c.1167-2del rs780014899 0.00001
NM_005957.5(MTHFR):c.1304_1305del (p.Phe435fs) rs756018487 0.00001
NM_005957.5(MTHFR):c.1517A>G (p.Tyr506Cys) rs764650203 0.00001
NM_005957.5(MTHFR):c.1632+2T>G rs749765738 0.00001
NM_005957.5(MTHFR):c.1748G>A (p.Trp583Ter) rs1314085200 0.00001
NM_005957.5(MTHFR):c.1753-18G>A rs777661576 0.00001
NM_005957.5(MTHFR):c.1808C>G (p.Ser603Cys) rs758206023 0.00001
NM_005957.5(MTHFR):c.1969T>C (p.Ter657Arg) rs768434408 0.00001
NM_005957.5(MTHFR):c.1970G>C (p.Ter657Ser) rs749490263 0.00001
NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly) rs763539350 0.00001
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met) rs1057519360 0.00001
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln) rs574132670 0.00001
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met) rs748571395 0.00001
NM_005957.5(MTHFR):c.767T>A (p.Ile256Asn) rs373398993 0.00001
NM_005957.5(MTHFR):c.968T>C (p.Leu323Pro) rs121434297 0.00001
MTHFR, 1081C-T
NC_000001.10:g.(?_11850365)_(11851393_?)del
NC_000001.10:g.(?_11850365)_(11852446_?)del
NC_000001.10:g.(?_11850365)_(11856466_?)del
NC_000001.10:g.(?_11850934)_(11852658_?)del
NC_000001.11:g.11796400del
NM_005957.5(MTHFR):c.-13-28_-13-27del rs1553188112
NM_005957.5(MTHFR):c.1003C>T (p.Arg335Cys)
NM_005957.5(MTHFR):c.1011del (p.Met338fs) rs1380686004
NM_005957.5(MTHFR):c.1015T>G (p.Trp339Gly) rs267606886
NM_005957.5(MTHFR):c.1042C>T (p.Pro348Ser) rs786204021
NM_005957.5(MTHFR):c.1047G>A (p.Trp349Ter)
NM_005957.5(MTHFR):c.1060C>T (p.His354Tyr) rs786204022
NM_005957.5(MTHFR):c.1063_1075del (p.Pro355fs) rs2100527918
NM_005957.5(MTHFR):c.1070G>A (p.Arg357His) rs977038830
NM_005957.5(MTHFR):c.1114A>G (p.Lys372Glu) rs786204024
NM_005957.5(MTHFR):c.1114_1115del (p.Lys372fs) rs1263501260
NM_005957.5(MTHFR):c.1121dup (p.Tyr374Ter) rs2100527601
NM_005957.5(MTHFR):c.1142G>A (p.Trp381Ter)
NM_005957.5(MTHFR):c.1144del (p.Asp382fs) rs747668376
NM_005957.5(MTHFR):c.1166+5G>C rs1483632178
NM_005957.5(MTHFR):c.1167G>A (p.Trp389Ter)
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del) rs1297161027
NM_005957.5(MTHFR):c.1252_1275del (p.Leu418_Leu425del)
NM_005957.5(MTHFR):c.1262G>A (p.Trp421Ter) rs200137991
NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser) rs200137991
NM_005957.5(MTHFR):c.1297G>T (p.Glu433Ter)
NM_005957.5(MTHFR):c.1347+1G>A
NM_005957.5(MTHFR):c.136del (p.Arg46fs)
NM_005957.5(MTHFR):c.1378del (p.Leu460fs)
NM_005957.5(MTHFR):c.1408G>T (p.Glu470Ter) rs139645527
NM_005957.5(MTHFR):c.1500G>A (p.Trp500Ter) rs116620395
NM_005957.5(MTHFR):c.1502del (p.Gly501fs)
NM_005957.5(MTHFR):c.1516T>G (p.Tyr506Asp) rs786204026
NM_005957.5(MTHFR):c.1530+2T>C rs786204027
NM_005957.5(MTHFR):c.1530G>A (p.Lys510=) rs765586205
NM_005957.5(MTHFR):c.1539dup (p.Glu514fs)
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs) rs764338697
NM_005957.5(MTHFR):c.154C>T (p.Arg52Ter) rs986604359
NM_005957.5(MTHFR):c.1552del (p.Ser518fs) rs2100507511
NM_005957.5(MTHFR):c.1588AAG[1] (p.Lys531del) rs763186690
NM_005957.5(MTHFR):c.1593del (p.Lys531fs) rs1057519363
NM_005957.5(MTHFR):c.1606G>T (p.Val536Phe) rs786204028
NM_005957.5(MTHFR):c.1657G>T (p.Glu553Ter) rs2100499494
NM_005957.5(MTHFR):c.1682G>A (p.Trp561Ter)
NM_005957.5(MTHFR):c.1683G>A (p.Trp561Ter) rs786204030
NM_005957.5(MTHFR):c.16del (p.Arg6fs)
NM_005957.5(MTHFR):c.1711C>T (p.Gln571Ter)
NM_005957.5(MTHFR):c.1712del (p.Gln571fs) rs2100499107
NM_005957.5(MTHFR):c.1715C>T (p.Pro572Leu)
NM_005957.5(MTHFR):c.1724T>G (p.Val575Gly) rs786204031
NM_005957.5(MTHFR):c.1750A>T (p.Lys584Ter) rs1644092513
NM_005957.5(MTHFR):c.1752+1G>T rs747846362
NM_005957.5(MTHFR):c.1768del (p.Leu590fs) rs2100495241
NM_005957.5(MTHFR):c.176G>C (p.Trp59Ser) rs786204007
NM_005957.5(MTHFR):c.177G>A (p.Trp59Ter) rs767789270
NM_005957.5(MTHFR):c.1793T>C (p.Leu598Pro) rs786204034
NM_005957.5(MTHFR):c.1797_1798delinsGT (p.Tyr599_Glu600delinsTer) rs786204035
NM_005957.5(MTHFR):c.1852del (p.Leu618fs) rs2100494177
NM_005957.5(MTHFR):c.1883T>C (p.Leu628Pro) rs786204037
NM_005957.5(MTHFR):c.191del (p.Phe64fs) rs2100577466
NM_005957.5(MTHFR):c.1A>G (p.Met1Val) rs776734688
NM_005957.5(MTHFR):c.202C>T (p.Arg68Ter) rs763539350
NM_005957.5(MTHFR):c.233C>G (p.Ser78Ter) rs776969786
NM_005957.5(MTHFR):c.236+1G>A rs1057519359
NM_005957.5(MTHFR):c.237-1G>T
NM_005957.5(MTHFR):c.237-2A>G
NM_005957.5(MTHFR):c.244C>T (p.Arg82Trp) rs786204009
NM_005957.5(MTHFR):c.264_302dup (p.Leu89_Pro101dup) rs786204010
NM_005957.5(MTHFR):c.273dup (p.Asp92fs) rs2100568604
NM_005957.5(MTHFR):c.2T>A (p.Met1Lys)
NM_005957.5(MTHFR):c.2T>C (p.Met1Thr)
NM_005957.5(MTHFR):c.337G>A (p.Ala113Thr) rs147257424
NM_005957.5(MTHFR):c.346G>A (p.Ala116Thr) rs1056919085
NM_005957.5(MTHFR):c.379C>T (p.His127Tyr) rs769381688
NM_005957.5(MTHFR):c.388T>C (p.Cys130Arg) rs786204012
NM_005957.5(MTHFR):c.440A>C (p.Gln147Pro) rs786204013
NM_005957.5(MTHFR):c.446_447delinsTT (p.Gly149Val) rs1644375837
NM_005957.5(MTHFR):c.451A>T (p.Lys151Ter) rs2100566841
NM_005957.5(MTHFR):c.474A>T (p.Gly158=) rs199476142
NM_005957.5(MTHFR):c.475+1G>T rs748397580
NM_005957.5(MTHFR):c.495G>A (p.Trp165Ter) rs774118546
NM_005957.5(MTHFR):c.523G>A (p.Ala175Thr) rs1182635980
NM_005957.5(MTHFR):c.547C>T (p.Arg183Ter) rs121434294
NM_005957.5(MTHFR):c.552del (p.Ser184fs) rs1644354028
NM_005957.5(MTHFR):c.587G>A (p.Gly196Asp) rs786204014
NM_005957.5(MTHFR):c.604C>A (p.Pro202Thr) rs1057519361
NM_005957.5(MTHFR):c.643_645del (p.Lys215del) rs746353274
NM_005957.5(MTHFR):c.662del (p.Gly221fs) rs1057519362
NM_005957.5(MTHFR):c.671TCA[2] (p.Ile226del) rs786204016
NM_005957.5(MTHFR):c.673A>C (p.Ile225Leu) rs200100285
NM_005957.5(MTHFR):c.712del (p.Arg238fs)
NM_005957.5(MTHFR):c.760C>T (p.Pro254Ser) rs786204017
NM_005957.5(MTHFR):c.764G>T (p.Gly255Val) rs786204018
NM_005957.5(MTHFR):c.769T>G (p.Phe257Val) rs786204019
NM_005957.5(MTHFR):c.778C>T (p.Gln260Ter)
NM_005957.5(MTHFR):c.780+1G>T rs786204020
NM_005957.5(MTHFR):c.781-1G>A
NM_005957.5(MTHFR):c.790del (p.Ser264fs)
NM_005957.5(MTHFR):c.835G>T (p.Glu279Ter)
NM_005957.5(MTHFR):c.860_863del (p.Ile287fs) rs1644227167
NM_005957.5(MTHFR):c.863_864del (p.Lys288fs) rs1644227125
NM_005957.5(MTHFR):c.867_868insG (p.Asn290fs) rs1644227005
NM_005957.5(MTHFR):c.872_875dup (p.Ala293fs)
NM_005957.5(MTHFR):c.906del (p.Ala302_Val303insTer)
NM_005957.5(MTHFR):c.934del (p.Ser312fs)
NM_005957.5(MTHFR):c.963C>A (p.Tyr321Ter)
NM_005957.5(MTHFR):c.971A>G (p.Asn324Ser) rs267606887

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.