ClinVar Miner

List of variants in gene MTHFR reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile) rs373076763 0.00021
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.1699C>T (p.Arg567Ter) rs140277700 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.1069C>T (p.Arg357Cys) rs779993607 0.00001
NM_005957.5(MTHFR):c.1072C>T (p.Arg358Ter) rs377443637 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.202C>G (p.Arg68Gly) rs763539350 0.00001
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met) rs748571395 0.00001
NM_005957.5(MTHFR):c.968T>C (p.Leu323Pro) rs121434297 0.00001
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.1011del (p.Met338fs) rs1380686004
NM_005957.5(MTHFR):c.1015T>G (p.Trp339Gly) rs267606886
NM_005957.5(MTHFR):c.1047G>A (p.Trp349Ter)
NM_005957.5(MTHFR):c.1063_1075del (p.Pro355fs) rs2100527918
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.1252_1275del (p.Leu418_Leu425del)
NM_005957.5(MTHFR):c.1262G>A (p.Trp421Ter) 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.1502del (p.Gly501fs)
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.1682G>A (p.Trp561Ter)
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.1750A>T (p.Lys584Ter) rs1644092513
NM_005957.5(MTHFR):c.1768del (p.Leu590fs) rs2100495241
NM_005957.5(MTHFR):c.177G>A (p.Trp59Ter) rs767789270
NM_005957.5(MTHFR):c.1852del (p.Leu618fs) rs2100494177
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.237-1G>T
NM_005957.5(MTHFR):c.237-2A>G
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.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.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.712del (p.Arg238fs)
NM_005957.5(MTHFR):c.778C>T (p.Gln260Ter)
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)

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