ClinVar Miner

List of variants in gene MTHFR studied for cognitive disorder

Included ClinVar conditions (266):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 40
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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.1408G>C (p.Glu470Gln) rs139645527 0.00242
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=) rs45572531 0.00190
NM_005957.5(MTHFR):c.1409A>T (p.Glu470Val) rs142617551 0.00183
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys) rs45496998 0.00178
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) rs45449298 0.00118
NM_005957.5(MTHFR):c.788A>C (p.His263Pro) rs142612062 0.00076
NM_005957.5(MTHFR):c.203G>A (p.Arg68Gln) rs2066472 0.00031
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val) rs200100285 0.00026
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile) rs373076763 0.00021
NM_005957.5(MTHFR):c.938G>C (p.Gly313Ala) rs200890679 0.00019
NM_005957.5(MTHFR):c.1720G>A (p.Val574Ile) rs202153689 0.00015
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His) rs543016186 0.00005
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00005
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.151C>T (p.Arg51Trp) rs764131110 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.973C>T (p.Arg325Cys) rs371085894 0.00002
NM_005957.5(MTHFR):c.1316T>C (p.Leu439Pro) rs545086633 0.00001
NM_005957.5(MTHFR):c.1371T>C (p.Asp457=) rs1428673436 0.00001
NM_005957.5(MTHFR):c.1604G>A (p.Arg535Gln) rs773360881 0.00001
NM_005957.5(MTHFR):c.1632+2T>G rs749765738 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.680C>T (p.Thr227Met) rs748571395 0.00001
NM_005957.5(MTHFR):c.968T>C (p.Leu323Pro) rs121434297 0.00001
NM_005957.5(MTHFR):c.1064C>T (p.Pro355Leu) rs794727869
NM_005957.5(MTHFR):c.112G>C (p.Asp38His)
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del) rs1297161027
NM_005957.5(MTHFR):c.1408_1409delinsCT (p.Glu470Leu) rs886043349
NM_005957.5(MTHFR):c.1429C>T (p.Gln477Ter)
NM_005957.5(MTHFR):c.1477T>A (p.Ser493Thr)
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs) rs764338697
NM_005957.5(MTHFR):c.236+1G>A rs1057519359
NM_005957.5(MTHFR):c.727T>G (p.Cys243Gly)
NM_005957.5(MTHFR):c.875C>T (p.Ala292Val)
NM_005957.5(MTHFR):c.976G>A (p.Glu326Lys)

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