ClinVar Miner

List of variants in gene MTHFR reported as uncertain significance by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 126
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.780+3G>A rs369259702 0.00022
NM_005957.5(MTHFR):c.1949C>T (p.Ala650Val) rs145544233 0.00019
NM_005957.5(MTHFR):c.260G>A (p.Gly87Asp) rs145302631 0.00019
NM_005957.5(MTHFR):c.868A>G (p.Asn290Asp) rs368735885 0.00018
NM_005957.5(MTHFR):c.1720G>A (p.Val574Ile) rs202153689 0.00015
NM_005957.5(MTHFR):c.1162C>T (p.Arg388Cys) rs200138092 0.00013
NM_005957.5(MTHFR):c.400C>T (p.Arg134Cys) rs45550133 0.00011
NM_005957.5(MTHFR):c.907G>A (p.Val303Met) rs143466425 0.00010
NM_005957.5(MTHFR):c.1816C>T (p.Arg606Cys) rs373747884 0.00009
NM_005957.5(MTHFR):c.1333C>T (p.Arg445Trp) rs138469955 0.00008
NM_005957.5(MTHFR):c.853G>A (p.Glu285Lys) rs372258648 0.00006
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His) rs543016186 0.00005
NM_005957.5(MTHFR):c.1028C>T (p.Pro343Leu) rs775190420 0.00005
NM_005957.5(MTHFR):c.607G>A (p.Glu203Lys) rs1018203291 0.00004
NM_005957.5(MTHFR):c.1073G>A (p.Arg358Gln) rs768873896 0.00003
NM_005957.5(MTHFR):c.151C>T (p.Arg51Trp) rs764131110 0.00003
NM_005957.5(MTHFR):c.1743G>A (p.Met581Ile) rs45590836 0.00003
NM_005957.5(MTHFR):c.245G>A (p.Arg82Gln) rs778417385 0.00003
NM_005957.5(MTHFR):c.62G>A (p.Ser21Asn) rs372125653 0.00003
NM_005957.5(MTHFR):c.712C>T (p.Arg238Cys) rs377571071 0.00003
NM_005957.5(MTHFR):c.867C>A (p.Asp289Glu) rs139786244 0.00003
NM_005957.5(MTHFR):c.1760C>G (p.Ala587Gly) rs761226286 0.00002
NM_005957.5(MTHFR):c.1970G>C (p.Ter657Ser) rs749490263 0.00002
NM_005957.5(MTHFR):c.382A>G (p.Met128Val) rs202095816 0.00002
NM_005957.5(MTHFR):c.575T>C (p.Ile192Thr) rs765834557 0.00002
NM_005957.5(MTHFR):c.947C>T (p.Pro316Leu) rs766741086 0.00002
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys) rs371085894 0.00002
NM_005957.5(MTHFR):c.1014G>A (p.Met338Ile) rs766683363 0.00001
NM_005957.5(MTHFR):c.101C>T (p.Thr34Ile) rs753730796 0.00001
NM_005957.5(MTHFR):c.1027C>T (p.Pro343Ser) rs762663885 0.00001
NM_005957.5(MTHFR):c.1034G>A (p.Arg345His) rs753278299 0.00001
NM_005957.5(MTHFR):c.1078G>A (p.Glu360Lys) rs757627437 0.00001
NM_005957.5(MTHFR):c.107G>T (p.Gly36Val) rs376266183 0.00001
NM_005957.5(MTHFR):c.1088G>A (p.Arg363His) rs786204023 0.00001
NM_005957.5(MTHFR):c.1160G>A (p.Gly387Asp) rs1430872491 0.00001
NM_005957.5(MTHFR):c.1204_1206del (p.Asp402del) rs1279238786 0.00001
NM_005957.5(MTHFR):c.1310T>A (p.Leu437His) rs1181242383 0.00001
NM_005957.5(MTHFR):c.1334G>A (p.Arg445Gln) rs774694621 0.00001
NM_005957.5(MTHFR):c.1475C>T (p.Pro492Leu) rs772615731 0.00001
NM_005957.5(MTHFR):c.1622T>C (p.Val541Ala) rs779726227 0.00001
NM_005957.5(MTHFR):c.1667C>T (p.Pro556Leu) rs747712448 0.00001
NM_005957.5(MTHFR):c.1690T>C (p.Phe564Leu) rs2522818037 0.00001
NM_005957.5(MTHFR):c.1700G>A (p.Arg567Gln) rs750272108 0.00001
NM_005957.5(MTHFR):c.1753-3T>G rs1557757184 0.00001
NM_005957.5(MTHFR):c.177G>T (p.Trp59Cys) rs767789270 0.00001
NM_005957.5(MTHFR):c.1817G>A (p.Arg606His) rs753917964 0.00001
NM_005957.5(MTHFR):c.1886A>G (p.Asp629Gly) rs370272345 0.00001
NM_005957.5(MTHFR):c.1945A>G (p.Asn649Asp) rs765930342 0.00001
NM_005957.5(MTHFR):c.1952G>A (p.Arg651Lys) rs1228526408 0.00001
NM_005957.5(MTHFR):c.240T>G (p.Phe80Leu) rs541505625 0.00001
NM_005957.5(MTHFR):c.248T>C (p.Met83Thr) rs1426036757 0.00001
NM_005957.5(MTHFR):c.334A>G (p.Ile112Val) rs1421914910 0.00001
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met) rs1057519360 0.00001
NM_005957.5(MTHFR):c.469C>T (p.Arg157Trp) rs776195746 0.00001
NM_005957.5(MTHFR):c.4G>A (p.Val2Met) rs760971509 0.00001
NM_005957.5(MTHFR):c.638A>G (p.His213Arg) rs780701935 0.00001
NM_005957.5(MTHFR):c.659C>T (p.Ala220Val) rs144920629 0.00001
NM_005957.5(MTHFR):c.733G>A (p.Asp245Asn) rs774725107 0.00001
NM_005957.5(MTHFR):c.767T>A (p.Ile256Asn) rs373398993 0.00001
NM_005957.5(MTHFR):c.797G>A (p.Arg266Gln) rs571238208 0.00001
NM_005957.5(MTHFR):c.815C>T (p.Ser272Phe) rs1160573823 0.00001
NM_005957.5(MTHFR):c.892G>A (p.Gly298Ser) rs745716822 0.00001
NM_005957.5(MTHFR):c.932C>A (p.Ala311Asp) rs765794603 0.00001
NM_005957.5(MTHFR):c.-13-28_-13-12del rs2522983268
NM_005957.5(MTHFR):c.-13-28_-13-27del rs1553188112
NM_005957.5(MTHFR):c.1004G>C (p.Arg335Pro) rs543016186
NM_005957.5(MTHFR):c.1012A>C (p.Met338Leu)
NM_005957.5(MTHFR):c.1037C>G (p.Pro346Arg) rs766410193
NM_005957.5(MTHFR):c.1060C>T (p.His354Tyr) rs786204022
NM_005957.5(MTHFR):c.10G>A (p.Glu4Lys) rs772252042
NM_005957.5(MTHFR):c.1117A>T (p.Ser373Cys) rs1570474242
NM_005957.5(MTHFR):c.1167G>C (p.Trp389Cys) rs1570473609
NM_005957.5(MTHFR):c.1223T>G (p.Leu408Arg) rs1644204223
NM_005957.5(MTHFR):c.1228A>G (p.Ser410Gly) rs2100525175
NM_005957.5(MTHFR):c.1252_1275dup (p.Leu418_Leu425dup) rs1334349459
NM_005957.5(MTHFR):c.1305_1306delinsTA (p.Val436Ile) rs2522864907
NM_005957.5(MTHFR):c.1337A>G (p.Asn446Ser) rs1206497521
NM_005957.5(MTHFR):c.1407G>C (p.Glu469Asp) rs2100519489
NM_005957.5(MTHFR):c.145A>G (p.Met49Val) rs1570498105
NM_005957.5(MTHFR):c.1514G>C (p.Gly505Ala) rs1644186145
NM_005957.5(MTHFR):c.1528A>G (p.Lys510Glu) rs1425929014
NM_005957.5(MTHFR):c.1529A>C (p.Lys510Thr) rs753049408
NM_005957.5(MTHFR):c.1530+6G>A rs760272809
NM_005957.5(MTHFR):c.1556G>A (p.Arg519His) rs45449298
NM_005957.5(MTHFR):c.1571C>G (p.Ala524Gly) rs774934088
NM_005957.5(MTHFR):c.1606G>T (p.Val536Phe) rs786204028
NM_005957.5(MTHFR):c.162A>T (p.Glu54Asp) rs753692902
NM_005957.5(MTHFR):c.1632+6C>G
NM_005957.5(MTHFR):c.1646_1648del (p.Thr549del) rs2522818696
NM_005957.5(MTHFR):c.1753-22_1753-3del rs752911686
NM_005957.5(MTHFR):c.1753-34_1753-19del rs1557757248
NM_005957.5(MTHFR):c.1780C>T (p.Arg594Trp) rs775066323
NM_005957.5(MTHFR):c.1793T>C (p.Leu598Pro) rs786204034
NM_005957.5(MTHFR):c.1798GAG[2] (p.Glu602del) rs765500188
NM_005957.5(MTHFR):c.17G>A (p.Arg6Lys) rs2522982484
NM_005957.5(MTHFR):c.1804_1805inv (p.Glu602Ser)
NM_005957.5(MTHFR):c.1840G>A (p.Asp614Asn) rs879406669
NM_005957.5(MTHFR):c.1934G>A (p.Arg645Lys) rs2522806053
NM_005957.5(MTHFR):c.1947T>G (p.Asn649Lys) rs2100493398
NM_005957.5(MTHFR):c.265C>G (p.Leu89Val) rs1042792109
NM_005957.5(MTHFR):c.271A>G (p.Ile91Val) rs761545364
NM_005957.5(MTHFR):c.29G>C (p.Ser10Thr) rs143428827
NM_005957.5(MTHFR):c.36C>A (p.Asn12Lys) rs1046343781
NM_005957.5(MTHFR):c.394C>T (p.Arg132Cys) rs1423805621
NM_005957.5(MTHFR):c.401G>A (p.Arg134His) rs370713424
NM_005957.5(MTHFR):c.421C>G (p.His141Asp) rs2522957103
NM_005957.5(MTHFR):c.475+4T>C rs1269193944
NM_005957.5(MTHFR):c.476-9A>G rs2100562141
NM_005957.5(MTHFR):c.524C>A (p.Ala175Glu) rs2522942416
NM_005957.5(MTHFR):c.571G>A (p.Asp191Asn) rs2522941422
NM_005957.5(MTHFR):c.589T>G (p.Tyr197Asp) rs776901659
NM_005957.5(MTHFR):c.58A>G (p.Ser20Gly) rs1410562479
NM_005957.5(MTHFR):c.643_645del (p.Lys215del) rs746353274
NM_005957.5(MTHFR):c.652G>T (p.Val218Leu) rs1644255161
NM_005957.5(MTHFR):c.676A>G (p.Ile226Val) rs773410203
NM_005957.5(MTHFR):c.707T>C (p.Phe236Ser) rs2522897461
NM_005957.5(MTHFR):c.725C>G (p.Ala242Gly) rs1557764179
NM_005957.5(MTHFR):c.737T>C (p.Met246Thr) rs140241283
NM_005957.5(MTHFR):c.755T>A (p.Ile252Asn) rs2100537636
NM_005957.5(MTHFR):c.760C>T (p.Pro254Ser) rs786204017
NM_005957.5(MTHFR):c.782G>T (p.Gly261Val) rs747665983
NM_005957.5(MTHFR):c.905C>G (p.Ala302Gly) rs747207640
NM_005957.5(MTHFR):c.976G>A (p.Glu326Lys)
NM_005957.5(MTHFR):c.998T>A (p.Leu333Gln) rs2522880425

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.