ClinVar Miner

List of variants reported as likely benign for Homocystinuria due to methylene tetrahydrofolate reductase deficiency by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 401
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.1408G>C (p.Glu470Gln) rs139645527 0.00242
NM_005957.5(MTHFR):c.236+3A>G rs1413355 0.00233
NM_005957.5(MTHFR):c.1409A>T (p.Glu470Val) rs142617551 0.00183
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.1281T>C (p.Ser427=) rs149533586 0.00029
NM_005957.5(MTHFR):c.1719C>T (p.Thr573=) rs149585376 0.00029
NM_005957.5(MTHFR):c.513C>A (p.Gly171=) rs150963282 0.00019
NM_005957.5(MTHFR):c.762C>T (p.Pro254=) rs200789362 0.00016
NM_005957.5(MTHFR):c.1401G>A (p.Leu467=) rs146554888 0.00014
NM_005957.5(MTHFR):c.781-12T>C rs376833963 0.00014
NM_005957.5(MTHFR):c.903G>A (p.Leu301=) rs147979890 0.00014
NM_005957.5(MTHFR):c.1734C>G (p.Val578=) rs145052308 0.00009
NM_005957.5(MTHFR):c.1155T>C (p.Pro385=) rs113989925 0.00008
NM_005957.5(MTHFR):c.136C>T (p.Arg46Trp) rs138189536 0.00008
NM_005957.5(MTHFR):c.885C>G (p.Arg295=) rs371474040 0.00007
NM_005957.5(MTHFR):c.1146C>T (p.Asp382=) rs761540678 0.00006
NM_005957.5(MTHFR):c.1378C>T (p.Leu460=) rs200180238 0.00005
NM_005957.5(MTHFR):c.1491C>T (p.Ile497=) rs143480693 0.00005
NM_005957.5(MTHFR):c.1065C>A (p.Pro355=) rs1156478570 0.00004
NM_005957.5(MTHFR):c.1134C>T (p.Thr378=) rs767306503 0.00004
NM_005957.5(MTHFR):c.1722A>T (p.Val574=) rs936532190 0.00004
NM_005957.5(MTHFR):c.336C>T (p.Ile112=) rs777803896 0.00004
NM_005957.5(MTHFR):c.681G>A (p.Thr227=) rs774825800 0.00004
NM_005957.5(MTHFR):c.90G>A (p.Ser30=) rs765167328 0.00004
NM_005957.5(MTHFR):c.1068G>A (p.Lys356=) rs749442724 0.00003
NM_005957.5(MTHFR):c.1368C>T (p.Asn456=) rs201105692 0.00003
NM_005957.5(MTHFR):c.1411C>T (p.Leu471=) rs370996045 0.00003
NM_005957.5(MTHFR):c.1467C>T (p.Asn489=) rs374026519 0.00003
NM_005957.5(MTHFR):c.1752+11C>T rs45598534 0.00003
NM_005957.5(MTHFR):c.18A>G (p.Arg6=) rs748686763 0.00003
NM_005957.5(MTHFR):c.237-9C>T rs765794234 0.00003
NM_005957.5(MTHFR):c.756C>T (p.Ile252=) rs1379249594 0.00003
NM_005957.5(MTHFR):c.783C>G (p.Gly261=) rs960207316 0.00003
NM_005957.5(MTHFR):c.819G>A (p.Lys273=) rs757497217 0.00003
NM_005957.5(MTHFR):c.918C>T (p.Cys306=) rs45498098 0.00003
NM_005957.5(MTHFR):c.1011G>A (p.Gly337=) rs755483936 0.00002
NM_005957.5(MTHFR):c.1482C>T (p.Ser494=) rs765736104 0.00002
NM_005957.5(MTHFR):c.1752+12G>A rs541364916 0.00002
NM_005957.5(MTHFR):c.1770G>A (p.Leu590=) rs554668389 0.00002
NM_005957.5(MTHFR):c.1857C>T (p.Val619=) rs572292225 0.00002
NM_005957.5(MTHFR):c.236+8C>T rs778531212 0.00002
NM_005957.5(MTHFR):c.376C>T (p.Leu126=) rs775190597 0.00002
NM_005957.5(MTHFR):c.453G>A (p.Lys151=) rs750818024 0.00002
NM_005957.5(MTHFR):c.606C>T (p.Pro202=) rs13306554 0.00002
NM_005957.5(MTHFR):c.813G>A (p.Leu271=) rs781214043 0.00002
NM_005957.5(MTHFR):c.1002G>A (p.Lys334=) rs147727428 0.00001
NM_005957.5(MTHFR):c.1062C>T (p.His354=) rs776606131 0.00001
NM_005957.5(MTHFR):c.1158C>T (p.Asn386=) rs764444752 0.00001
NM_005957.5(MTHFR):c.1182C>A (p.Ser394=) rs1394785767 0.00001
NM_005957.5(MTHFR):c.1230C>T (p.Ser410=) rs748977409 0.00001
NM_005957.5(MTHFR):c.123G>T (p.Arg41=) rs1465286858 0.00001
NM_005957.5(MTHFR):c.1251G>A (p.Leu417=) rs1448262865 0.00001
NM_005957.5(MTHFR):c.1308T>C (p.Val436=) rs373524607 0.00001
NM_005957.5(MTHFR):c.1348-11G>A rs201696223 0.00001
NM_005957.5(MTHFR):c.1356C>T (p.Cys452=) rs1379967274 0.00001
NM_005957.5(MTHFR):c.1371T>C (p.Asp457=) rs1428673436 0.00001
NM_005957.5(MTHFR):c.1383G>A (p.Ala461=) rs199517455 0.00001
NM_005957.5(MTHFR):c.1449C>T (p.Asn483=) rs1644188320 0.00001
NM_005957.5(MTHFR):c.1531-5C>T rs563840479 0.00001
NM_005957.5(MTHFR):c.1531-9C>G rs1433996363 0.00001
NM_005957.5(MTHFR):c.1539A>G (p.Leu513=) rs1454380592 0.00001
NM_005957.5(MTHFR):c.1566G>A (p.Ala522=) rs539932473 0.00001
NM_005957.5(MTHFR):c.157T>C (p.Leu53=) rs1205350004 0.00001
NM_005957.5(MTHFR):c.1596C>T (p.Tyr532=) rs776430173 0.00001
NM_005957.5(MTHFR):c.1633-8C>A rs1347437811 0.00001
NM_005957.5(MTHFR):c.1641C>T (p.Asn547=) rs764655005 0.00001
NM_005957.5(MTHFR):c.1668G>A (p.Pro556=) rs778486116 0.00001
NM_005957.5(MTHFR):c.1731C>T (p.Pro577=) rs926145376 0.00001
NM_005957.5(MTHFR):c.1755C>T (p.Asp585=) rs375119199 0.00001
NM_005957.5(MTHFR):c.1779G>A (p.Glu593=) rs372169679 0.00001
NM_005957.5(MTHFR):c.1812G>A (p.Pro604=) rs1407988165 0.00001
NM_005957.5(MTHFR):c.1839C>T (p.His613=) rs199730437 0.00001
NM_005957.5(MTHFR):c.1887C>T (p.Asp629=) rs780005836 0.00001
NM_005957.5(MTHFR):c.1968A>G (p.Pro656=) rs774321998 0.00001
NM_005957.5(MTHFR):c.198T>A (p.Pro66=) rs1300486433 0.00001
NM_005957.5(MTHFR):c.237-10C>T rs367693626 0.00001
NM_005957.5(MTHFR):c.282C>T (p.Thr94=) rs143347952 0.00001
NM_005957.5(MTHFR):c.294A>T (p.Ala98=) rs1265447449 0.00001
NM_005957.5(MTHFR):c.321C>T (p.Thr107=) rs769916813 0.00001
NM_005957.5(MTHFR):c.423T>C (p.His141=) rs1339869041 0.00001
NM_005957.5(MTHFR):c.522C>T (p.Tyr174=) rs941382680 0.00001
NM_005957.5(MTHFR):c.534G>A (p.Leu178=) rs746368113 0.00001
NM_005957.5(MTHFR):c.654G>A (p.Val218=) rs756691180 0.00001
NM_005957.5(MTHFR):c.660G>A (p.Ala220=) rs141060174 0.00001
NM_005957.5(MTHFR):c.666C>T (p.Ala222=) rs776956662 0.00001
NM_005957.5(MTHFR):c.69T>C (p.Ser23=) rs757868254 0.00001
NM_005957.5(MTHFR):c.735C>T (p.Asp245=) rs941214983 0.00001
NM_005957.5(MTHFR):c.765G>A (p.Gly255=) rs770611205 0.00001
NM_005957.5(MTHFR):c.789C>T (p.His263=) rs774637461 0.00001
NM_005957.5(MTHFR):c.846C>T (p.Asp282=) rs1451895576 0.00001
NM_005957.5(MTHFR):c.957C>T (p.His319=) rs763699944 0.00001
NM_005957.5(MTHFR):c.966C>T (p.Thr322=) rs138748774 0.00001
NM_005957.5(MTHFR):c.969C>T (p.Leu323=) rs769659626 0.00001
NM_005957.5(MTHFR):c.997C>T (p.Leu333=) rs1318966127 0.00001
NM_005957.5(MTHFR):c.9C>T (p.Asn3=) rs773463208 0.00001
NM_005957.5(MTHFR):c.1008G>A (p.Leu336=) rs2100530121
NM_005957.5(MTHFR):c.1023G>A (p.Glu341=)
NM_005957.5(MTHFR):c.1026C>T (p.Asp342=) rs763896620
NM_005957.5(MTHFR):c.1029C>T (p.Pro343=)
NM_005957.5(MTHFR):c.1031+12G>A
NM_005957.5(MTHFR):c.1031+15C>T
NM_005957.5(MTHFR):c.1031+20G>A
NM_005957.5(MTHFR):c.1031+8C>T
NM_005957.5(MTHFR):c.1032-11T>A
NM_005957.5(MTHFR):c.1032-12A>T
NM_005957.5(MTHFR):c.1032-14C>T
NM_005957.5(MTHFR):c.1032-16C>T
NM_005957.5(MTHFR):c.1032-17del
NM_005957.5(MTHFR):c.1032-20C>T
NM_005957.5(MTHFR):c.1032-4C>T rs943653758
NM_005957.5(MTHFR):c.1032-7C>T
NM_005957.5(MTHFR):c.1038C>T (p.Pro346=)
NM_005957.5(MTHFR):c.1059C>T (p.Ala353=) rs2100528167
NM_005957.5(MTHFR):c.105G>C (p.Pro35=)
NM_005957.5(MTHFR):c.105G>T (p.Pro35=)
NM_005957.5(MTHFR):c.1083T>C (p.Asp361=) rs1486854528
NM_005957.5(MTHFR):c.1089T>A (p.Arg363=) rs2100527802
NM_005957.5(MTHFR):c.1108A>C (p.Arg370=) rs2100527712
NM_005957.5(MTHFR):c.1113A>G (p.Pro371=) rs2100527693
NM_005957.5(MTHFR):c.111G>A (p.Leu37=) rs1553188013
NM_005957.5(MTHFR):c.1125C>T (p.Ile375=)
NM_005957.5(MTHFR):c.1166+12C>T
NM_005957.5(MTHFR):c.1166+18T>C
NM_005957.5(MTHFR):c.1166+7G>A
NM_005957.5(MTHFR):c.1166+8C>T
NM_005957.5(MTHFR):c.1166+9C>T
NM_005957.5(MTHFR):c.1167-12C>T
NM_005957.5(MTHFR):c.1167-14C>A
NM_005957.5(MTHFR):c.1167-14C>T
NM_005957.5(MTHFR):c.1167-18T>C
NM_005957.5(MTHFR):c.1167-7C>T
NM_005957.5(MTHFR):c.1188C>T (p.Ala396=) rs771601940
NM_005957.5(MTHFR):c.1197G>A (p.Glu399=) rs1367495674
NM_005957.5(MTHFR):c.120G>A (p.Glu40=) rs1394958095
NM_005957.5(MTHFR):c.121C>A (p.Arg41=)
NM_005957.5(MTHFR):c.1221C>T (p.Tyr407=) rs2100525246
NM_005957.5(MTHFR):c.1233G>A (p.Lys411=)
NM_005957.5(MTHFR):c.1245G>A (p.Glu415=)
NM_005957.5(MTHFR):c.1248G>A (p.Glu416=) rs2100524560
NM_005957.5(MTHFR):c.1266G>A (p.Gly422=) rs2100524088
NM_005957.5(MTHFR):c.1275G>A (p.Leu425=)
NM_005957.5(MTHFR):c.1278C>G (p.Thr426=) rs2100523738
NM_005957.5(MTHFR):c.1278C>T (p.Thr426=)
NM_005957.5(MTHFR):c.1290T>C (p.Ser430=)
NM_005957.5(MTHFR):c.1293C>G (p.Val431=)
NM_005957.5(MTHFR):c.1329A>C (p.Pro443=) rs2100522480
NM_005957.5(MTHFR):c.1332C>T (p.Asn444=)
NM_005957.5(MTHFR):c.1335G>C (p.Arg445=)
NM_005957.5(MTHFR):c.1344C>T (p.His448=) rs745497522
NM_005957.5(MTHFR):c.1347+14_1347+80del
NM_005957.5(MTHFR):c.1347+16G>T
NM_005957.5(MTHFR):c.1347+9T>C
NM_005957.5(MTHFR):c.1348-12C>T
NM_005957.5(MTHFR):c.1348-15C>G
NM_005957.5(MTHFR):c.1348-15C>T
NM_005957.5(MTHFR):c.1348-17C>T
NM_005957.5(MTHFR):c.1348-4C>G rs2100519965
NM_005957.5(MTHFR):c.1348-5C>T rs1644192802
NM_005957.5(MTHFR):c.1357C>T (p.Leu453=)
NM_005957.5(MTHFR):c.1362C>G (p.Pro454=) rs1570472454
NM_005957.5(MTHFR):c.136C>A (p.Arg46=) rs138189536
NM_005957.5(MTHFR):c.1374G>A (p.Glu458=)
NM_005957.5(MTHFR):c.1380G>A (p.Leu460=)
NM_005957.5(MTHFR):c.1386T>A (p.Ala462=)
NM_005957.5(MTHFR):c.138G>A (p.Arg46=)
NM_005957.5(MTHFR):c.1408_1409delinsCT (p.Glu470Leu) rs886043349
NM_005957.5(MTHFR):c.1416G>T (p.Leu472=) rs2100519362
NM_005957.5(MTHFR):c.1425C>T (p.Asn475=)
NM_005957.5(MTHFR):c.1428C>T (p.Arg476=)
NM_005957.5(MTHFR):c.1440C>T (p.Leu480=) rs1644188527
NM_005957.5(MTHFR):c.1455G>A (p.Gln485=) rs545002537
NM_005957.5(MTHFR):c.1458C>T (p.Pro486=) rs2100518947
NM_005957.5(MTHFR):c.1470G>A (p.Gly490=) rs2100518831
NM_005957.5(MTHFR):c.1479C>G (p.Ser493=)
NM_005957.5(MTHFR):c.1485C>T (p.Asp495=)
NM_005957.5(MTHFR):c.1503C>A (p.Gly501=)
NM_005957.5(MTHFR):c.1509C>T (p.Ser503=)
NM_005957.5(MTHFR):c.1515C>T (p.Gly505=) rs376927238
NM_005957.5(MTHFR):c.1518T>C (p.Tyr506=) rs2100518329
NM_005957.5(MTHFR):c.1530+14G>A
NM_005957.5(MTHFR):c.1530+17C>T
NM_005957.5(MTHFR):c.1530+18G>A
NM_005957.5(MTHFR):c.1530+19G>A
NM_005957.5(MTHFR):c.1530+7T>C
NM_005957.5(MTHFR):c.1530+8A>G rs772858015
NM_005957.5(MTHFR):c.1530+8A>T rs772858015
NM_005957.5(MTHFR):c.1531-11C>G
NM_005957.5(MTHFR):c.1531-16C>G
NM_005957.5(MTHFR):c.1531-19G>A
NM_005957.5(MTHFR):c.1531-7C>T rs777858766
NM_005957.5(MTHFR):c.1531-8T>C rs2100507748
NM_005957.5(MTHFR):c.1533C>G (p.Ala511=)
NM_005957.5(MTHFR):c.1536C>T (p.Tyr512=)
NM_005957.5(MTHFR):c.1542G>A (p.Glu514=)
NM_005957.5(MTHFR):c.1557C>A (p.Arg519=) rs780544969
NM_005957.5(MTHFR):c.1557C>T (p.Arg519=) rs780544969
NM_005957.5(MTHFR):c.1563A>G (p.Thr521=) rs2100507296
NM_005957.5(MTHFR):c.1575T>G (p.Leu525=)
NM_005957.5(MTHFR):c.1578G>A (p.Leu526=)
NM_005957.5(MTHFR):c.1584G>A (p.Val528=)
NM_005957.5(MTHFR):c.1593G>A (p.Lys531=) rs113615972
NM_005957.5(MTHFR):c.1605G>A (p.Arg535=)
NM_005957.5(MTHFR):c.1611T>C (p.Asn537=) rs796064511
NM_005957.5(MTHFR):c.162A>G (p.Glu54=) rs753692902
NM_005957.5(MTHFR):c.1632+10G>T
NM_005957.5(MTHFR):c.1632+11C>T
NM_005957.5(MTHFR):c.1632+13C>T
NM_005957.5(MTHFR):c.1632+15A>G
NM_005957.5(MTHFR):c.1632+35G>C
NM_005957.5(MTHFR):c.1632+9G>C
NM_005957.5(MTHFR):c.1633-10A>C
NM_005957.5(MTHFR):c.1633-15_1633-14delinsTT
NM_005957.5(MTHFR):c.1633-18C>A
NM_005957.5(MTHFR):c.1633-20C>A
NM_005957.5(MTHFR):c.1633-5C>T
NM_005957.5(MTHFR):c.1633-7C>A
NM_005957.5(MTHFR):c.1633-7C>T rs776084278
NM_005957.5(MTHFR):c.1650T>C (p.Asn550=) rs2100499565
NM_005957.5(MTHFR):c.1668G>T (p.Pro556=) rs778486116
NM_005957.5(MTHFR):c.1674T>C (p.Ala558=) rs933241629
NM_005957.5(MTHFR):c.1677C>T (p.Val559=) rs754425084
NM_005957.5(MTHFR):c.1680T>C (p.Thr560=) rs1644095203
NM_005957.5(MTHFR):c.1686C>T (p.Gly562=)
NM_005957.5(MTHFR):c.168T>C (p.Gly56=)
NM_005957.5(MTHFR):c.1698G>A (p.Gly566=) rs2100499222
NM_005957.5(MTHFR):c.1701A>G (p.Arg567=)
NM_005957.5(MTHFR):c.1704G>A (p.Glu568=) rs1644094379
NM_005957.5(MTHFR):c.171C>T (p.Asp57=) rs1570497974
NM_005957.5(MTHFR):c.1722A>G (p.Val574=) rs936532190
NM_005957.5(MTHFR):c.1737C>T (p.Ser579=)
NM_005957.5(MTHFR):c.1752+12G>T
NM_005957.5(MTHFR):c.1752+16G>C
NM_005957.5(MTHFR):c.1753-10GT[6]
NM_005957.5(MTHFR):c.1753-12_1753-9dup rs1644075708
NM_005957.5(MTHFR):c.1753-13T>C
NM_005957.5(MTHFR):c.1753-14G>A
NM_005957.5(MTHFR):c.1753-15G>C
NM_005957.5(MTHFR):c.1753-18G>T
NM_005957.5(MTHFR):c.1753-19C>T
NM_005957.5(MTHFR):c.1753-20G>T
NM_005957.5(MTHFR):c.1753-25TG[2] rs751611452
NM_005957.5(MTHFR):c.1753-34_1753-19dup
NM_005957.5(MTHFR):c.1753-37_1753-20dup
NM_005957.5(MTHFR):c.1753-4G>A
NM_005957.5(MTHFR):c.1753-4G>T rs543808715
NM_005957.5(MTHFR):c.1753-8G>C
NM_005957.5(MTHFR):c.1767C>T (p.Ala589=)
NM_005957.5(MTHFR):c.1788A>G (p.Gly596=) rs776182425
NM_005957.5(MTHFR):c.1803G>A (p.Glu601=)
NM_005957.5(MTHFR):c.1806G>A (p.Glu602=) rs2100494839
NM_005957.5(MTHFR):c.1815C>T (p.Ser605=) rs1293653587
NM_005957.5(MTHFR):c.1830G>A (p.Gln610=)
NM_005957.5(MTHFR):c.1832A>G (p.Tyr611Cys) rs756615138
NM_005957.5(MTHFR):c.1833C>T (p.Tyr611=)
NM_005957.5(MTHFR):c.1836C>T (p.Ile612=) rs2100494373
NM_005957.5(MTHFR):c.183C>G (p.Ser61=) rs2100577499
NM_005957.5(MTHFR):c.1845C>T (p.Asn615=)
NM_005957.5(MTHFR):c.1863G>C (p.Leu621=) rs2100494045
NM_005957.5(MTHFR):c.1866G>A (p.Val622=)
NM_005957.5(MTHFR):c.1875C>T (p.Asp625=) rs2100493955
NM_005957.5(MTHFR):c.1878C>T (p.Phe626=)
NM_005957.5(MTHFR):c.1896C>T (p.Leu632=) rs1360182594
NM_005957.5(MTHFR):c.1902G>A (p.Gln634=) rs2100493744
NM_005957.5(MTHFR):c.1905G>A (p.Val635=) rs1383645963
NM_005957.5(MTHFR):c.1918T>C (p.Leu640=) rs558230616
NM_005957.5(MTHFR):c.1944G>A (p.Gln648=)
NM_005957.5(MTHFR):c.1947T>C (p.Asn649=) rs2100493398
NM_005957.5(MTHFR):c.1950G>A (p.Ala650=) rs1300052327
NM_005957.5(MTHFR):c.1953A>G (p.Arg651=) rs2100493280
NM_005957.5(MTHFR):c.1970G>A (p.Ter657=) rs749490263
NM_005957.5(MTHFR):c.225T>C (p.Asn75=) rs2100577290
NM_005957.5(MTHFR):c.228C>T (p.Leu76=) rs2100577261
NM_005957.5(MTHFR):c.234A>G (p.Ser78=) rs771782125
NM_005957.5(MTHFR):c.236+10T>C
NM_005957.5(MTHFR):c.236+13A>G
NM_005957.5(MTHFR):c.236+15G>A rs2100577025
NM_005957.5(MTHFR):c.236+20A>T
NM_005957.5(MTHFR):c.236+7T>A
NM_005957.5(MTHFR):c.236+9A>C rs1253089753
NM_005957.5(MTHFR):c.236+9A>T rs1253089753
NM_005957.5(MTHFR):c.237-10C>A
NM_005957.5(MTHFR):c.237-15A>G
NM_005957.5(MTHFR):c.237-20C>T
NM_005957.5(MTHFR):c.237-4A>G rs1372519713
NM_005957.5(MTHFR):c.237-8C>T
NM_005957.5(MTHFR):c.243C>T (p.Asp81=)
NM_005957.5(MTHFR):c.261C>T (p.Gly87=)
NM_005957.5(MTHFR):c.264C>T (p.Pro88=) rs1311706078
NM_005957.5(MTHFR):c.273A>C (p.Ile91=)
NM_005957.5(MTHFR):c.288C>T (p.His96=) rs748688171
NM_005957.5(MTHFR):c.315G>A (p.Lys105=) rs2100568147
NM_005957.5(MTHFR):c.318G>A (p.Glu106=) rs2100568106
NM_005957.5(MTHFR):c.324C>A (p.Ser108=)
NM_005957.5(MTHFR):c.339C>G (p.Ala113=)
NM_005957.5(MTHFR):c.339C>T (p.Ala113=)
NM_005957.5(MTHFR):c.345C>A (p.Thr115=) rs2066461
NM_005957.5(MTHFR):c.345C>T (p.Thr115=) rs2066461
NM_005957.5(MTHFR):c.348C>G (p.Ala116=)
NM_005957.5(MTHFR):c.354C>T (p.Asn118=)
NM_005957.5(MTHFR):c.357C>T (p.Tyr119=)
NM_005957.5(MTHFR):c.36C>T (p.Asn12=) rs1046343781
NM_005957.5(MTHFR):c.387C>T (p.Thr129=)
NM_005957.5(MTHFR):c.390C>T (p.Cys130=) rs1185978577
NM_005957.5(MTHFR):c.402C>A (p.Arg134=) rs2100567232
NM_005957.5(MTHFR):c.408G>A (p.Glu136=)
NM_005957.5(MTHFR):c.417G>C (p.Thr139=) rs2066466
NM_005957.5(MTHFR):c.417G>T (p.Thr139=) rs2066466
NM_005957.5(MTHFR):c.426G>T (p.Leu142=) rs1553187352
NM_005957.5(MTHFR):c.42C>T (p.Cys14=)
NM_005957.5(MTHFR):c.43T>C (p.Leu15=) rs2100578574
NM_005957.5(MTHFR):c.444G>T (p.Leu148=) rs1644375978
NM_005957.5(MTHFR):c.447C>T (p.Gly149=)
NM_005957.5(MTHFR):c.448C>T (p.Leu150=) rs2100566876
NM_005957.5(MTHFR):c.456C>T (p.Asn152=) rs2100566808
NM_005957.5(MTHFR):c.465G>A (p.Ala155=) rs566125423
NM_005957.5(MTHFR):c.465G>T (p.Ala155=) rs566125423
NM_005957.5(MTHFR):c.469C>A (p.Arg157=) rs776195746
NM_005957.5(MTHFR):c.475+10C>T
NM_005957.5(MTHFR):c.475+17C>A
NM_005957.5(MTHFR):c.475+8G>A
NM_005957.5(MTHFR):c.476-13A>G
NM_005957.5(MTHFR):c.476-6C>T rs1219357233
NM_005957.5(MTHFR):c.476-8C>T rs1282906772
NM_005957.5(MTHFR):c.48G>A (p.Glu16=)
NM_005957.5(MTHFR):c.507G>A (p.Glu169=)
NM_005957.5(MTHFR):c.516C>T (p.Phe172=)
NM_005957.5(MTHFR):c.519C>T (p.Asn173=)
NM_005957.5(MTHFR):c.531C>T (p.Asp177=) rs2100561654
NM_005957.5(MTHFR):c.576C>A (p.Ile192=)
NM_005957.5(MTHFR):c.57C>A (p.Ala19=) rs2100578481
NM_005957.5(MTHFR):c.586+11G>A
NM_005957.5(MTHFR):c.586+15C>T
NM_005957.5(MTHFR):c.586+18C>G
NM_005957.5(MTHFR):c.586+20T>C
NM_005957.5(MTHFR):c.587-11C>T
NM_005957.5(MTHFR):c.587-12C>A
NM_005957.5(MTHFR):c.587-12C>T
NM_005957.5(MTHFR):c.587-14A>G
NM_005957.5(MTHFR):c.587-15C>T
NM_005957.5(MTHFR):c.587-19C>T
NM_005957.5(MTHFR):c.587-4G>A
NM_005957.5(MTHFR):c.587-7T>C rs775136816
NM_005957.5(MTHFR):c.587-8A>C
NM_005957.5(MTHFR):c.587-9T>C
NM_005957.5(MTHFR):c.594C>G (p.Pro198=) rs2100541366
NM_005957.5(MTHFR):c.603C>T (p.His201=) rs964885613
NM_005957.5(MTHFR):c.606C>G (p.Pro202=) rs13306554
NM_005957.5(MTHFR):c.60C>T (p.Ser20=)
NM_005957.5(MTHFR):c.615G>A (p.Gly205=) rs779138021
NM_005957.5(MTHFR):c.621T>C (p.Phe207=)
NM_005957.5(MTHFR):c.624G>A (p.Glu208=) rs2100540661
NM_005957.5(MTHFR):c.651G>A (p.Lys217=) rs1644255213
NM_005957.5(MTHFR):c.657T>G (p.Ser219=) rs2100539860
NM_005957.5(MTHFR):c.665_666delinsTT (p.Ala222Val)
NM_005957.5(MTHFR):c.675C>T (p.Ile225=) rs1644254284
NM_005957.5(MTHFR):c.678C>A (p.Ile226=)
NM_005957.5(MTHFR):c.681G>C (p.Thr227=) rs774825800
NM_005957.5(MTHFR):c.687T>C (p.Leu229=)
NM_005957.5(MTHFR):c.690C>T (p.Phe230=) rs2100539064
NM_005957.5(MTHFR):c.699T>C (p.Ala233=)
NM_005957.5(MTHFR):c.714C>G (p.Arg238=)
NM_005957.5(MTHFR):c.717T>C (p.Phe239=)
NM_005957.5(MTHFR):c.774C>T (p.Pro258=) rs777367515
NM_005957.5(MTHFR):c.780+11C>T
NM_005957.5(MTHFR):c.780+13G>A
NM_005957.5(MTHFR):c.780+16G>A
NM_005957.5(MTHFR):c.780+18G>T
NM_005957.5(MTHFR):c.780+8G>A rs771375720
NM_005957.5(MTHFR):c.781-10dup rs2100532208
NM_005957.5(MTHFR):c.781-13A>G
NM_005957.5(MTHFR):c.781-13A>T
NM_005957.5(MTHFR):c.781-14C>T
NM_005957.5(MTHFR):c.781-16C>G
NM_005957.5(MTHFR):c.781-5G>A rs2100532176
NM_005957.5(MTHFR):c.786C>T (p.Tyr262=) rs1644229819
NM_005957.5(MTHFR):c.78C>T (p.Ser26=)
NM_005957.5(MTHFR):c.804T>C (p.Leu268=)
NM_005957.5(MTHFR):c.810G>A (p.Lys270=) rs755932312
NM_005957.5(MTHFR):c.828G>A (p.Val276=) rs2100531623
NM_005957.5(MTHFR):c.831A>G (p.Pro277=)
NM_005957.5(MTHFR):c.840C>T (p.Ile280=)
NM_005957.5(MTHFR):c.843G>A (p.Lys281=) rs2100531529
NM_005957.5(MTHFR):c.849G>A (p.Val283=)
NM_005957.5(MTHFR):c.84T>C (p.Asp28=)
NM_005957.5(MTHFR):c.87T>C (p.Ser29=) rs2100578276
NM_005957.5(MTHFR):c.891T>C (p.Tyr297=) rs367992906
NM_005957.5(MTHFR):c.897C>T (p.Ile299=)
NM_005957.5(MTHFR):c.906C>T (p.Ala302=) rs13306555
NM_005957.5(MTHFR):c.909G>A (p.Val303=) rs1570475497
NM_005957.5(MTHFR):c.913C>T (p.Leu305=) rs2100530817
NM_005957.5(MTHFR):c.915G>C (p.Leu305=) rs1308637124
NM_005957.5(MTHFR):c.915G>T (p.Leu305=)
NM_005957.5(MTHFR):c.927T>C (p.Leu309=)
NM_005957.5(MTHFR):c.945G>A (p.Val315=)
NM_005957.5(MTHFR):c.954C>T (p.Leu318=) rs1335006530
NM_005957.5(MTHFR):c.969C>G (p.Leu323=)
NM_005957.5(MTHFR):c.972C>T (p.Asn324=)
NM_005957.5(MTHFR):c.975C>T (p.Arg325=)

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