ClinVar Miner

List of variants in gene MTHFR studied for Neural tube defects, folate-sensitive

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Gene type:
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Total variants: 83
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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.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_005957.5(MTHFR):c.*174del rs776554158 0.00121
NM_005957.5(MTHFR):c.1162C>T (p.Arg388Cys) rs200138092 0.00014
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00011
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.470G>A (p.Arg157Gln) rs121434295 0.00002
NM_005957.5(MTHFR):c.*367_*369dup rs886045191 0.00001
NM_005957.5(MTHFR):c.1013T>C (p.Met338Thr) rs368321176 0.00001
NM_005957.5(MTHFR):c.1167-2del rs780014899 0.00001
NM_005957.5(MTHFR):c.1316T>C (p.Leu439Pro) rs545086633 0.00001
NM_005957.5(MTHFR):c.1632+2T>G rs749765738 0.00001
NM_005957.5(MTHFR):c.1753-18G>A rs777661576 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.968T>C (p.Leu323Pro) rs121434297 0.00001
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys) rs371085894 0.00001
NM_005957.5(MTHFR):c.*1018A>G rs886045187
NM_005957.5(MTHFR):c.*372_*373insTACC rs886045190
NM_005957.5(MTHFR):c.*702del rs775036001
NM_005957.5(MTHFR):c.-69_-63del rs886045194
NM_005957.5(MTHFR):c.1003C>T (p.Arg335Cys)
NM_005957.5(MTHFR):c.1011dup (p.Met338fs)
NM_005957.5(MTHFR):c.1070G>A (p.Arg357His) rs977038830
NM_005957.5(MTHFR):c.112del (p.Asp38fs)
NM_005957.5(MTHFR):c.1151_1152delinsG (p.Phe384fs)
NM_005957.5(MTHFR):c.1166+1G>T
NM_005957.5(MTHFR):c.1166+5G>C rs1483632178
NM_005957.5(MTHFR):c.1246G>T (p.Glu416Ter)
NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser) rs200137991
NM_005957.5(MTHFR):c.1279del (p.Ser427fs)
NM_005957.5(MTHFR):c.1304T>C (p.Phe435Ser)
NM_005957.5(MTHFR):c.1347+1G>A
NM_005957.5(MTHFR):c.1347+2T>C
NM_005957.5(MTHFR):c.1348-1G>C
NM_005957.5(MTHFR):c.1408G>T (p.Glu470Ter) rs139645527
NM_005957.5(MTHFR):c.1499G>A (p.Trp500Ter)
NM_005957.5(MTHFR):c.1502_1503del (p.Gly501fs)
NM_005957.5(MTHFR):c.1525C>T (p.Gln509Ter)
NM_005957.5(MTHFR):c.1530+1G>T
NM_005957.5(MTHFR):c.1530G>A (p.Lys510=) rs765586205
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs) rs764338697
NM_005957.5(MTHFR):c.1547dup (p.Thr517fs)
NM_005957.5(MTHFR):c.154C>T (p.Arg52Ter) rs986604359
NM_005957.5(MTHFR):c.1603C>T (p.Arg535Trp)
NM_005957.5(MTHFR):c.1604G>A (p.Arg535Gln)
NM_005957.5(MTHFR):c.1640dup (p.Asn547fs)
NM_005957.5(MTHFR):c.1663C>T (p.Gln555Ter)
NM_005957.5(MTHFR):c.1683G>A (p.Trp561Ter) rs786204030
NM_005957.5(MTHFR):c.1711C>T (p.Gln571Ter)
NM_005957.5(MTHFR):c.1750A>T (p.Lys584Ter) rs1644092513
NM_005957.5(MTHFR):c.1750_1752+1del
NM_005957.5(MTHFR):c.1752+1G>T rs747846362
NM_005957.5(MTHFR):c.1753-14dup rs758514539
NM_005957.5(MTHFR):c.1768del (p.Leu590fs) rs2100495241
NM_005957.5(MTHFR):c.176G>A (p.Trp59Ter)
NM_005957.5(MTHFR):c.1786G>T (p.Gly596Ter)
NM_005957.5(MTHFR):c.1828del (p.Gln610fs)
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.237-2A>G
NM_005957.5(MTHFR):c.273dup (p.Asp92fs) rs2100568604
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.474A>T (p.Gly158=) rs199476142
NM_005957.5(MTHFR):c.475+1G>T rs748397580
NM_005957.5(MTHFR):c.476-2A>T
NM_005957.5(MTHFR):c.509del (p.Gly170fs)
NM_005957.5(MTHFR):c.523G>A (p.Ala175Thr) rs1182635980
NM_005957.5(MTHFR):c.532_540delinsT (p.Leu178fs)
NM_005957.5(MTHFR):c.591C>A (p.Tyr197Ter)
NM_005957.5(MTHFR):c.655dup (p.Ser219fs)
NM_005957.5(MTHFR):c.781-1G>A
NM_005957.5(MTHFR):c.867_868insG (p.Asn290fs) rs1644227005

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