ClinVar Miner

List of variants in gene MTHFR reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 209
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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.348C>T (p.Ala116=) rs144921426 0.00217
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys) rs45496998 0.00176
NM_005957.5(MTHFR):c.1761C>T (p.Ala587=) rs115049252 0.00145
NM_005957.5(MTHFR):c.708C>T (p.Phe236=) rs34279942 0.00134
NM_005957.5(MTHFR):c.*174del rs776554158 0.00121
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.1625A>C (p.Asn542Thr) rs145641996 0.00073
NM_005957.5(MTHFR):c.667G>A (p.Asp223Asn) rs150847674 0.00068
NM_005957.5(MTHFR):c.1392C>T (p.Thr464=) rs79157191 0.00064
NM_005957.5(MTHFR):c.1032-6A>G rs2066464 0.00061
NM_005957.5(MTHFR):c.-13-304G>A rs564397537 0.00031
NM_005957.5(MTHFR):c.203G>A (p.Arg68Gln) rs2066472 0.00031
NM_005957.5(MTHFR):c.1719C>T (p.Thr573=) rs149585376 0.00029
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val) rs200100285 0.00028
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile) rs373076763 0.00021
NM_005957.5(MTHFR):c.938G>C (p.Gly313Ala) rs200890679 0.00021
NM_005957.5(MTHFR):c.1949C>T (p.Ala650Val) rs145544233 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 0.00014
NM_005957.5(MTHFR):c.903G>A (p.Leu301=) rs147979890 0.00014
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.1333C>T (p.Arg445Trp) rs138469955 0.00009
NM_005957.5(MTHFR):c.853G>A (p.Glu285Lys) rs372258648 0.00006
NM_005957.5(MTHFR):c.1028C>T (p.Pro343Leu) rs775190420 0.00005
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.1426C>T (p.Arg476Cys) rs757784497 0.00004
NM_005957.5(MTHFR):c.607G>A (p.Glu203Lys) rs1018203291 0.00004
NM_005957.5(MTHFR):c.700G>A (p.Asp234Asn) rs45589033 0.00004
NM_005957.5(MTHFR):c.90G>A (p.Ser30=) rs765167328 0.00004
NM_005957.5(MTHFR):c.*7G>A rs547574100 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.867C>A (p.Asp289Glu) rs139786244 0.00003
NM_005957.5(MTHFR):c.1163G>A (p.Arg388His) rs769953411 0.00002
NM_005957.5(MTHFR):c.1571C>A (p.Ala524Glu) rs774934088 0.00002
NM_005957.5(MTHFR):c.1760C>G (p.Ala587Gly) rs761226286 0.00002
NM_005957.5(MTHFR):c.330G>C (p.Met110Ile) rs781158269 0.00002
NM_005957.5(MTHFR):c.575T>C (p.Ile192Thr) rs765834557 0.00002
NM_005957.5(MTHFR):c.815C>T (p.Ser272Phe) rs1160573823 0.00002
NM_005957.5(MTHFR):c.*367_*369dup rs886045191 0.00001
NM_005957.5(MTHFR):c.1002G>A (p.Lys334=) rs147727428 0.00001
NM_005957.5(MTHFR):c.1014G>A (p.Met338Ile) rs766683363 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.1088G>A (p.Arg363His) rs786204023 0.00001
NM_005957.5(MTHFR):c.1263G>C (p.Trp421Cys) rs200688214 0.00001
NM_005957.5(MTHFR):c.1462A>G (p.Ile488Val) rs1235405305 0.00001
NM_005957.5(MTHFR):c.1517A>G (p.Tyr506Cys) rs764650203 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.177G>T (p.Trp59Cys) rs767789270 0.00001
NM_005957.5(MTHFR):c.1970G>C (p.Ter657Ser) rs749490263 0.00001
NM_005957.5(MTHFR):c.248T>C (p.Met83Thr) rs1426036757 0.00001
NM_005957.5(MTHFR):c.382A>G (p.Met128Val) rs202095816 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.680C>T (p.Thr227Met) rs748571395 0.00001
NM_005957.5(MTHFR):c.767T>A (p.Ile256Asn) rs373398993 0.00001
NM_005957.5(MTHFR):c.773C>G (p.Pro258Arg) rs1553186124 0.00001
NM_005957.5(MTHFR):c.797G>A (p.Arg266Gln) rs571238208 0.00001
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys) rs371085894 0.00001
NC_000001.11:g.11806049C>T rs1337903078
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.-13-28_-13-12del
NM_005957.5(MTHFR):c.-13-28_-13-27del rs1553188112
NM_005957.5(MTHFR):c.-69_-63del rs886045194
NM_005957.5(MTHFR):c.1004G>C (p.Arg335Pro)
NM_005957.5(MTHFR):c.101C>T (p.Thr34Ile)
NM_005957.5(MTHFR):c.1037C>G (p.Pro346Arg)
NM_005957.5(MTHFR):c.1060C>T (p.His354Tyr) rs786204022
NM_005957.5(MTHFR):c.1064C>T (p.Pro355Leu) rs794727869
NM_005957.5(MTHFR):c.1073G>A (p.Arg358Gln)
NM_005957.5(MTHFR):c.1078G>A (p.Glu360Lys)
NM_005957.5(MTHFR):c.107G>T (p.Gly36Val)
NM_005957.5(MTHFR):c.10G>A (p.Glu4Lys)
NM_005957.5(MTHFR):c.1117A>T (p.Ser373Cys) rs1570474242
NM_005957.5(MTHFR):c.111G>A (p.Leu37=) rs1553188013
NM_005957.5(MTHFR):c.1129C>A (p.Arg377Ser)
NM_005957.5(MTHFR):c.1160G>A (p.Gly387Asp)
NM_005957.5(MTHFR):c.1167G>C (p.Trp389Cys) rs1570473609
NM_005957.5(MTHFR):c.1175C>T (p.Ser392Phe)
NM_005957.5(MTHFR):c.1204_1206del (p.Asp402del)
NM_005957.5(MTHFR):c.1223T>G (p.Leu408Arg)
NM_005957.5(MTHFR):c.1228A>G (p.Ser410Gly) rs2100525175
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del) rs1297161027
NM_005957.5(MTHFR):c.1235C>G (p.Ser412Cys)
NM_005957.5(MTHFR):c.1252_1275dup (p.Leu418_Leu425dup) rs1334349459
NM_005957.5(MTHFR):c.1273C>G (p.Leu425Val)
NM_005957.5(MTHFR):c.1288A>G (p.Ser430Gly)
NM_005957.5(MTHFR):c.1305_1306delinsTA (p.Val436Ile)
NM_005957.5(MTHFR):c.1310T>A (p.Leu437His)
NM_005957.5(MTHFR):c.1320G>T (p.Ser440=) rs367585605
NM_005957.5(MTHFR):c.1334G>A (p.Arg445Gln)
NM_005957.5(MTHFR):c.1337A>G (p.Asn446Ser)
NM_005957.5(MTHFR):c.1407G>C (p.Glu469Asp) rs2100519489
NM_005957.5(MTHFR):c.1408_1409delinsCT (p.Glu470Leu) rs886043349
NM_005957.5(MTHFR):c.1417C>T (p.Arg473Trp)
NM_005957.5(MTHFR):c.1418G>A (p.Arg473Gln)
NM_005957.5(MTHFR):c.145A>G (p.Met49Val) rs1570498105
NM_005957.5(MTHFR):c.1475C>T (p.Pro492Leu)
NM_005957.5(MTHFR):c.1514G>C (p.Gly505Ala)
NM_005957.5(MTHFR):c.1515C>T (p.Gly505=) rs376927238
NM_005957.5(MTHFR):c.151C>G (p.Arg51Gly)
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
NM_005957.5(MTHFR):c.1531-12T>A
NM_005957.5(MTHFR):c.1556G>A (p.Arg519His)
NM_005957.5(MTHFR):c.1571C>G (p.Ala524Gly) rs774934088
NM_005957.5(MTHFR):c.1604G>A (p.Arg535Gln)
NM_005957.5(MTHFR):c.1606G>T (p.Val536Phe) rs786204028
NM_005957.5(MTHFR):c.1616A>G (p.His539Arg)
NM_005957.5(MTHFR):c.1621G>T (p.Val541Phe) rs1644131560
NM_005957.5(MTHFR):c.162A>T (p.Glu54Asp) rs753692902
NM_005957.5(MTHFR):c.1646_1648del (p.Thr549del)
NM_005957.5(MTHFR):c.1685G>A (p.Gly562Asp) rs1161759917
NM_005957.5(MTHFR):c.1690T>C (p.Phe564Leu)
NM_005957.5(MTHFR):c.1700G>A (p.Arg567Gln)
NM_005957.5(MTHFR):c.1739del (p.Phe580fs) rs193921032
NM_005957.5(MTHFR):c.1753-14dup rs758514539
NM_005957.5(MTHFR):c.1753-16G>A
NM_005957.5(MTHFR):c.1753-22_1753-3del rs752911686
NM_005957.5(MTHFR):c.1753-34_1753-19del
NM_005957.5(MTHFR):c.1753-3T>G
NM_005957.5(MTHFR):c.1780C>T (p.Arg594Trp)
NM_005957.5(MTHFR):c.1793T>C (p.Leu598Pro) rs786204034
NM_005957.5(MTHFR):c.1796A>G (p.Tyr599Cys) rs2100495013
NM_005957.5(MTHFR):c.1798GAG[2] (p.Glu602del)
NM_005957.5(MTHFR):c.17G>A (p.Arg6Lys)
NM_005957.5(MTHFR):c.1804_1805inv (p.Glu602Ser)
NM_005957.5(MTHFR):c.1811C>T (p.Pro604Leu)
NM_005957.5(MTHFR):c.1816C>T (p.Arg606Cys)
NM_005957.5(MTHFR):c.1817G>A (p.Arg606His)
NM_005957.5(MTHFR):c.1823T>A (p.Ile608Asn)
NM_005957.5(MTHFR):c.1840G>A (p.Asp614Asn) rs879406669
NM_005957.5(MTHFR):c.1859A>G (p.Asn620Ser)
NM_005957.5(MTHFR):c.1860C>G (p.Asn620Lys)
NM_005957.5(MTHFR):c.1886A>G (p.Asp629Gly)
NM_005957.5(MTHFR):c.1892G>A (p.Cys631Tyr)
NM_005957.5(MTHFR):c.1934G>A (p.Arg645Lys)
NM_005957.5(MTHFR):c.1945A>G (p.Asn649Asp)
NM_005957.5(MTHFR):c.1947T>G (p.Asn649Lys)
NM_005957.5(MTHFR):c.1952G>A (p.Arg651Lys)
NM_005957.5(MTHFR):c.199C>T (p.Pro67Ser) rs1644422806
NM_005957.5(MTHFR):c.240T>G (p.Phe80Leu) rs541505625
NM_005957.5(MTHFR):c.245G>A (p.Arg82Gln)
NM_005957.5(MTHFR):c.260G>A (p.Gly87Asp)
NM_005957.5(MTHFR):c.260G>T (p.Gly87Val)
NM_005957.5(MTHFR):c.265C>G (p.Leu89Val) rs1042792109
NM_005957.5(MTHFR):c.271A>G (p.Ile91Val)
NM_005957.5(MTHFR):c.277G>A (p.Val93Met)
NM_005957.5(MTHFR):c.29G>C (p.Ser10Thr)
NM_005957.5(MTHFR):c.334A>G (p.Ile112Val) rs1421914910
NM_005957.5(MTHFR):c.346G>A (p.Ala116Thr) rs1056919085
NM_005957.5(MTHFR):c.36C>A (p.Asn12Lys)
NM_005957.5(MTHFR):c.379C>T (p.His127Tyr) rs769381688
NM_005957.5(MTHFR):c.394C>T (p.Arg132Cys)
NM_005957.5(MTHFR):c.395G>A (p.Arg132His)
NM_005957.5(MTHFR):c.401G>A (p.Arg134His)
NM_005957.5(MTHFR):c.421C>G (p.His141Asp)
NM_005957.5(MTHFR):c.426G>T (p.Leu142=) rs1553187352
NM_005957.5(MTHFR):c.469C>A (p.Arg157=) rs776195746
NM_005957.5(MTHFR):c.475+4T>C
NM_005957.5(MTHFR):c.476-9A>G rs2100562141
NM_005957.5(MTHFR):c.4G>A (p.Val2Met)
NM_005957.5(MTHFR):c.524C>A (p.Ala175Glu)
NM_005957.5(MTHFR):c.526_529delinsCCAGGGAGGCTTC (p.Val176_Asp177delinsProGlyArgLeuHis) rs2100561692
NM_005957.5(MTHFR):c.566A>G (p.Tyr189Cys)
NM_005957.5(MTHFR):c.571G>A (p.Asp191Asn)
NM_005957.5(MTHFR):c.587-11C>G
NM_005957.5(MTHFR):c.589T>G (p.Tyr197Asp) rs776901659
NM_005957.5(MTHFR):c.58A>G (p.Ser20Gly)
NM_005957.5(MTHFR):c.62G>A (p.Ser21Asn)
NM_005957.5(MTHFR):c.638A>G (p.His213Arg)
NM_005957.5(MTHFR):c.643_645del (p.Lys215del) rs746353274
NM_005957.5(MTHFR):c.649_651del (p.Lys217del) rs2100540023
NM_005957.5(MTHFR):c.652G>T (p.Val218Leu) rs1644255161
NM_005957.5(MTHFR):c.659C>T (p.Ala220Val)
NM_005957.5(MTHFR):c.676A>G (p.Ile226Val) rs773410203
NM_005957.5(MTHFR):c.707T>C (p.Phe236Ser)
NM_005957.5(MTHFR):c.708C>G (p.Phe236Leu)
NM_005957.5(MTHFR):c.712C>T (p.Arg238Cys)
NM_005957.5(MTHFR):c.713G>A (p.Arg238His)
NM_005957.5(MTHFR):c.725C>G (p.Ala242Gly)
NM_005957.5(MTHFR):c.733G>A (p.Asp245Asn)
NM_005957.5(MTHFR):c.737T>C (p.Met246Thr)
NM_005957.5(MTHFR):c.755T>A (p.Ile252Asn) rs2100537636
NM_005957.5(MTHFR):c.755T>G (p.Ile252Ser)
NM_005957.5(MTHFR):c.760C>T (p.Pro254Ser) rs786204017
NM_005957.5(MTHFR):c.776T>C (p.Ile259Thr) rs1570478057
NM_005957.5(MTHFR):c.779A>G (p.Gln260Arg)
NM_005957.5(MTHFR):c.780+3G>A
NM_005957.5(MTHFR):c.782G>T (p.Gly261Val) rs747665983
NM_005957.5(MTHFR):c.82G>A (p.Asp28Asn) rs2100578318
NM_005957.5(MTHFR):c.871G>A (p.Asp291Asn)
NM_005957.5(MTHFR):c.892G>A (p.Gly298Ser)
NM_005957.5(MTHFR):c.89C>T (p.Ser30Leu) rs886043815
NM_005957.5(MTHFR):c.905C>G (p.Ala302Gly)
NM_005957.5(MTHFR):c.932C>A (p.Ala311Asp)
NM_005957.5(MTHFR):c.947C>T (p.Pro316Leu)
NM_005957.5(MTHFR):c.998T>A (p.Leu333Gln)

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