ClinVar Miner

List of variants in gene MTHFR reported as likely pathogenic for homocystinuria

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00011
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.137G>A (p.Arg46Gln) rs776483190 0.00003
NM_005957.5(MTHFR):c.1163G>A (p.Arg388His) rs769953411 0.00002
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln) rs121434295 0.00002
NM_005957.5(MTHFR):c.1033C>T (p.Arg345Cys) rs759031330 0.00001
NM_005957.5(MTHFR):c.1263G>C (p.Trp421Cys) rs200688214 0.00001
NM_005957.5(MTHFR):c.1316T>C (p.Leu439Pro) rs545086633 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.968T>C (p.Leu323Pro) rs121434297 0.00001
NM_005957.5(MTHFR):c.1003C>T (p.Arg335Cys)
NM_005957.5(MTHFR):c.1011G>T (p.Gly337=)
NM_005957.5(MTHFR):c.1032-12_1038del rs2100528352
NM_005957.5(MTHFR):c.1032-1G>C
NM_005957.5(MTHFR):c.1070G>A (p.Arg357His) rs977038830
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del) rs1297161027
NM_005957.5(MTHFR):c.1249del (p.Leu417fs)
NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser) rs200137991
NM_005957.5(MTHFR):c.1267dup (p.Glu423fs) rs1557761665
NM_005957.5(MTHFR):c.1270G>T (p.Glu424Ter) rs1476689323
NM_005957.5(MTHFR):c.1348-1G>C
NM_005957.5(MTHFR):c.1516T>G (p.Tyr506Asp) rs786204026
NM_005957.5(MTHFR):c.1530+1G>A
NM_005957.5(MTHFR):c.1530+1G>T
NM_005957.5(MTHFR):c.1531-1G>C
NM_005957.5(MTHFR):c.1538T>G (p.Leu513Ter) rs1553185069
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs) rs764338697
NM_005957.5(MTHFR):c.1596C>G (p.Tyr532Ter)
NM_005957.5(MTHFR):c.1603C>T (p.Arg535Trp)
NM_005957.5(MTHFR):c.1749_1752+7del
NM_005957.5(MTHFR):c.1750A>T (p.Lys584Ter) rs1644092513
NM_005957.5(MTHFR):c.1752+1G>T rs747846362
NM_005957.5(MTHFR):c.1793T>G (p.Leu598Arg) rs786204034
NM_005957.5(MTHFR):c.237-2A>C rs1644381879
NM_005957.5(MTHFR):c.237G>T (p.Arg79Ser) rs1553187509
NM_005957.5(MTHFR):c.264_302dup (p.Leu89_Pro101dup) rs786204010
NM_005957.5(MTHFR):c.337G>A (p.Ala113Thr) rs147257424
NM_005957.5(MTHFR):c.337G>T (p.Ala113Ser) 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.474A>T (p.Gly158=) rs199476142
NM_005957.5(MTHFR):c.475+1G>A rs748397580
NM_005957.5(MTHFR):c.475+1G>T rs748397580
NM_005957.5(MTHFR):c.476-1G>A rs2100562061
NM_005957.5(MTHFR):c.476A>G (p.Asp159Gly) rs1644355976
NM_005957.5(MTHFR):c.584C>T (p.Ala195Val) rs760161369
NM_005957.5(MTHFR):c.671TCA[2] (p.Ile226del) rs786204016
NM_005957.5(MTHFR):c.704_705del (p.Thr235fs)
NM_005957.5(MTHFR):c.780+1G>A
NM_005957.5(MTHFR):c.781-6G>A
NM_005957.5(MTHFR):c.971A>G (p.Asn324Ser) rs267606887

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