ClinVar Miner

List of variants in gene MTHFR reported as pathogenic for Homocysteinemia due to MTHFR deficiency

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Total variants: 56
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HGVS dbSNP
NM_005957.4(MTHFR):c.-13-28_-13-27del rs1553188112
NM_005957.4(MTHFR):c.1004G>A (p.Arg335His) rs543016186
NM_005957.4(MTHFR):c.1013T>C (p.Met338Thr)
NM_005957.4(MTHFR):c.1033C>T (p.Arg345Cys) rs759031330
NM_005957.4(MTHFR):c.1042C>T (p.Pro348Ser) rs786204021
NM_005957.4(MTHFR):c.1060C>T (p.His354Tyr) rs786204022
NM_005957.4(MTHFR):c.1072C>T (p.Arg358Ter) rs377443637
NM_005957.4(MTHFR):c.1088G>A (p.Arg363His) rs786204023
NM_005957.4(MTHFR):c.1114A>G (p.Lys372Glu) rs786204024
NM_005957.4(MTHFR):c.1167-2del rs780014899
NM_005957.4(MTHFR):c.1262G>C (p.Trp421Ser) rs200137991
NM_005957.4(MTHFR):c.1320G>A (p.Ser440=) rs367585605
NM_005957.4(MTHFR):c.136C>T (p.Arg46Trp) rs138189536
NM_005957.4(MTHFR):c.137G>A (p.Arg46Gln) rs776483190
NM_005957.4(MTHFR):c.1408G>T (p.Glu470Ter)
NM_005957.4(MTHFR):c.1516T>G (p.Tyr506Asp) rs786204026
NM_005957.4(MTHFR):c.1530+2T>C rs786204027
NM_005957.4(MTHFR):c.1530G>A (p.Lys510=) rs765586205
NM_005957.4(MTHFR):c.154C>T (p.Arg52Ter) rs986604359
NM_005957.4(MTHFR):c.155G>A (p.Arg52Gln)
NM_005957.4(MTHFR):c.1593del (p.Lys531fs) rs1057519363
NM_005957.4(MTHFR):c.1606G>T (p.Val536Phe) rs786204028
NM_005957.4(MTHFR):c.1632+2T>G rs749765738
NM_005957.4(MTHFR):c.1683G>A (p.Trp561Ter) rs786204030
NM_005957.4(MTHFR):c.1699C>T (p.Arg567Ter)
NM_005957.4(MTHFR):c.1724T>G (p.Val575Gly) rs786204031
NM_005957.4(MTHFR):c.1743G>A (p.Met581Ile) rs45590836
NM_005957.4(MTHFR):c.1752+1G>T rs747846362
NM_005957.4(MTHFR):c.1753-18G>A rs777661576
NM_005957.4(MTHFR):c.176G>C (p.Trp59Ser) rs786204007
NM_005957.4(MTHFR):c.1793T>C (p.Leu598Pro) rs786204034
NM_005957.4(MTHFR):c.1797_1798delinsGT (p.Tyr599_Glu600delinsTer) rs786204035
NM_005957.4(MTHFR):c.1808C>G (p.Ser603Cys) rs758206023
NM_005957.4(MTHFR):c.1883T>C (p.Leu628Pro) rs786204037
NM_005957.4(MTHFR):c.1969T>C (p.Ter657Arg) rs768434408
NM_005957.4(MTHFR):c.202C>G (p.Arg68Gly) rs763539350
NM_005957.4(MTHFR):c.236+1G>A rs1057519359
NM_005957.4(MTHFR):c.244C>T (p.Arg82Trp) rs786204009
NM_005957.4(MTHFR):c.264_302dup (p.Leu89_Pro101dup) rs786204010
NM_005957.4(MTHFR):c.337G>A (p.Ala113Thr) rs147257424
NM_005957.4(MTHFR):c.379C>T (p.His127Tyr) rs769381688
NM_005957.4(MTHFR):c.388T>C (p.Cys130Arg) rs786204012
NM_005957.4(MTHFR):c.416C>T (p.Thr139Met) rs1057519360
NM_005957.4(MTHFR):c.440A>C (p.Gln147Pro) rs786204013
NM_005957.4(MTHFR):c.548G>A (p.Arg183Gln) rs574132670
NM_005957.4(MTHFR):c.587G>A (p.Gly196Asp) rs786204014
NM_005957.4(MTHFR):c.604C>A (p.Pro202Thr) rs1057519361
NM_005957.4(MTHFR):c.643_645del (p.Lys215del) rs746353274
NM_005957.4(MTHFR):c.662del (p.Gly221fs) rs1057519362
NM_005957.4(MTHFR):c.671_673TCA[2] (p.Ile226del) rs786204016
NM_005957.4(MTHFR):c.673A>C (p.Ile225Leu) rs200100285
NM_005957.4(MTHFR):c.760C>T (p.Pro254Ser) rs786204017
NM_005957.4(MTHFR):c.764G>T (p.Gly255Val) rs786204018
NM_005957.4(MTHFR):c.767T>A (p.Ile256Asn) rs373398993
NM_005957.4(MTHFR):c.769T>G (p.Phe257Val) rs786204019
NM_005957.4(MTHFR):c.780+1G>T rs786204020

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