ClinVar Miner

List of variants in gene MTHFR reported as pathogenic for disorder of vitamin and non-protein cofactor absorption and transport

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 143
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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.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.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.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.(?_11850737)_(11863214_?)del
NC_000001.10:g.(?_11850934)_(11852658_?)del
NC_000001.10:g.(?_11852300)_(11854940_?)del
NC_000001.10:g.(?_11853954)_(11856466_?)del
NC_000001.11:g.11791327del
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.1488del (p.Ile497fs)
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.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.1736dup (p.Ser579fs)
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

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