ClinVar Miner

List of variants in gene DNMT1 studied for Hereditary sensory neuropathy type IE

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Gene type:
ClinVar version:
Total variants: 162
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HGVS dbSNP
NM_001130823.3(DNMT1):c.1043C>T (p.Pro348Leu)
NM_001130823.3(DNMT1):c.1044-9T>C rs533403196
NM_001130823.3(DNMT1):c.1051A>G (p.Lys351Glu)
NM_001130823.3(DNMT1):c.1053A>G (p.Lys351=) rs139355567
NM_001130823.3(DNMT1):c.1064G>A (p.Arg355His) rs201945078
NM_001130823.3(DNMT1):c.1066G>A (p.Ala356Thr) rs529074384
NM_001130823.3(DNMT1):c.1066G>T (p.Ala356Ser)
NM_001130823.3(DNMT1):c.1095C>T (p.His365=) rs116502459
NM_001130823.3(DNMT1):c.1108A>C (p.Ile370Leu) rs1316802867
NM_001130823.3(DNMT1):c.1170+5G>C
NM_001130823.3(DNMT1):c.118-7C>G
NM_001130823.3(DNMT1):c.1196A>G (p.Asn399Ser)
NM_001130823.3(DNMT1):c.1206G>C (p.Leu402=) rs147235870
NM_001130823.3(DNMT1):c.1281T>C (p.Ser427=) rs1555691724
NM_001130823.3(DNMT1):c.1320C>T (p.Thr440=) rs143925123
NM_001130823.3(DNMT1):c.1378G>C (p.Asp460His) rs1403539644
NM_001130823.3(DNMT1):c.1393C>G (p.Leu465Val)
NM_001130823.3(DNMT1):c.1394T>C (p.Leu465Pro)
NM_001130823.3(DNMT1):c.1500C>T (p.Ala500=) rs75443147
NM_001130823.3(DNMT1):c.150C>T (p.His50=) rs146112081
NM_001130823.3(DNMT1):c.1518_1520delinsATA (p.Asp506_Pro507delinsGluTyr) rs199473691
NM_001130823.3(DNMT1):c.1520C>T (p.Pro507Leu)
NM_001130823.3(DNMT1):c.1531T>C (p.Tyr511His) rs199473692
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001130823.3(DNMT1):c.1608C>T (p.Ser536=) rs553962731
NM_001130823.3(DNMT1):c.1642G>A (p.Glu548Lys)
NM_001130823.3(DNMT1):c.1645-10C>A rs752563425
NM_001130823.3(DNMT1):c.1821G>A (p.Thr607=) rs371848582
NM_001130823.3(DNMT1):c.1833-4G>A rs753887750
NM_001130823.3(DNMT1):c.1845G>A (p.Ala615=) rs761852984
NM_001130823.3(DNMT1):c.1861A>C (p.Arg621=) rs144567470
NM_001130823.3(DNMT1):c.1896G>A (p.Thr632=) rs202058239
NM_001130823.3(DNMT1):c.1911C>T (p.Thr637=) rs745677290
NM_001130823.3(DNMT1):c.1944C>T (p.Phe648=) rs61750052
NM_001130823.3(DNMT1):c.1983G>T (p.Glu661Asp)
NM_001130823.3(DNMT1):c.1986C>T (p.Asn662=) rs377704053
NM_001130823.3(DNMT1):c.1987G>A (p.Ala663Thr)
NM_001130823.3(DNMT1):c.2018A>G (p.Glu673Gly) rs1555691311
NM_001130823.3(DNMT1):c.2020-10C>T rs369373339
NM_001130823.3(DNMT1):c.2030A>G (p.Gln677Arg) rs1568232544
NM_001130823.3(DNMT1):c.2068G>A (p.Val690Ile) rs1568232526
NM_001130823.3(DNMT1):c.206G>A (p.Arg69His) rs61750053
NM_001130823.3(DNMT1):c.2108A>G (p.Gln703Arg)
NM_001130823.3(DNMT1):c.2113C>T (p.Arg705Trp)
NM_001130823.3(DNMT1):c.2211_2213GAA[5] (p.Lys741dup)
NM_001130823.3(DNMT1):c.225+4A>G rs1265807438
NM_001130823.3(DNMT1):c.2268T>C (p.Thr756=) rs374841430
NM_001130823.3(DNMT1):c.229G>A (p.Gly77Ser)
NM_001130823.3(DNMT1):c.2366C>T (p.Pro789Leu)
NM_001130823.3(DNMT1):c.2377G>T (p.Ala793Ser) rs1223065154
NM_001130823.3(DNMT1):c.2382-4C>T rs74505694
NM_001130823.3(DNMT1):c.2383G>A (p.Val795Ile) rs1555690511
NM_001130823.3(DNMT1):c.2387C>T (p.Thr796Met) rs148987580
NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=) rs61750051
NM_001130823.3(DNMT1):c.2472G>A (p.Thr824=) rs45484792
NM_001130823.3(DNMT1):c.2474C>T (p.Ser825Leu) rs1555690467
NM_001130823.3(DNMT1):c.2475G>A (p.Ser825=) rs368834599
NM_001130823.3(DNMT1):c.2625C>T (p.Asp875=) rs200928585
NM_001130823.3(DNMT1):c.2667C>T (p.Tyr889=) rs199832007
NM_001130823.3(DNMT1):c.2689A>G (p.Lys897Glu) rs746143694
NM_001130823.3(DNMT1):c.2711A>T (p.Asn904Ile)
NM_001130823.3(DNMT1):c.2721-10T>A rs377355204
NM_001130823.3(DNMT1):c.2728G>T (p.Val910Leu) rs150863675
NM_001130823.3(DNMT1):c.2794G>A (p.Asp932Asn) rs910412179
NM_001130823.3(DNMT1):c.2836G>A (p.Gly946Ser) rs777416084
NM_001130823.3(DNMT1):c.2836G>T (p.Gly946Cys)
NM_001130823.3(DNMT1):c.2888C>T (p.Thr963Met)
NM_001130823.3(DNMT1):c.290A>G (p.His97Arg) rs16999593
NM_001130823.3(DNMT1):c.2914G>A (p.Val972Met) rs148038464
NM_001130823.3(DNMT1):c.2926C>T (p.Arg976Trp) rs1568226455
NM_001130823.3(DNMT1):c.2979C>T (p.Ser993=) rs771269343
NM_001130823.3(DNMT1):c.299A>G (p.Asn100Ser) rs1375073063
NM_001130823.3(DNMT1):c.301C>T (p.Arg101Trp)
NM_001130823.3(DNMT1):c.302G>A (p.Arg101Gln) rs1401130665
NM_001130823.3(DNMT1):c.3116+3C>G
NM_001130823.3(DNMT1):c.3117-9C>T rs199546819
NM_001130823.3(DNMT1):c.3156C>T (p.His1052=) rs141856197
NM_001130823.3(DNMT1):c.316C>T (p.Arg106Cys) rs759600542
NM_001130823.3(DNMT1):c.3223C>T (p.Arg1075Cys)
NM_001130823.3(DNMT1):c.3232G>A (p.Val1078Met) rs560179619
NM_001130823.3(DNMT1):c.3262G>A (p.Val1088Ile) rs776461147
NM_001130823.3(DNMT1):c.328G>A (p.Gly110Arg) rs376894659
NM_001130823.3(DNMT1):c.3293G>A (p.Arg1098His)
NM_001130823.3(DNMT1):c.3352C>T (p.His1118Tyr)
NM_001130823.3(DNMT1):c.3353A>G (p.His1118Arg) rs150331990
NM_001130823.3(DNMT1):c.3401G>A (p.Gly1134Asp)
NM_001130823.3(DNMT1):c.341G>A (p.Arg114Lys) rs554894511
NM_001130823.3(DNMT1):c.3492C>T (p.Cys1164=) rs140951214
NM_001130823.3(DNMT1):c.3498G>T (p.Gly1166=) rs1186008456
NM_001130823.3(DNMT1):c.3519A>C (p.Gln1173His) rs151305495
NM_001130823.3(DNMT1):c.3523+6C>T rs372240993
NM_001130823.3(DNMT1):c.358G>C (p.Val120Leu) rs75616428
NM_001130823.3(DNMT1):c.3668G>A (p.Arg1223His) rs757460628
NM_001130823.3(DNMT1):c.3806+6C>T rs371779379
NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr) rs146601335
NM_001130823.3(DNMT1):c.382C>T (p.Pro128Ser) rs146601335
NM_001130823.3(DNMT1):c.3830G>A (p.Arg1277Gln)
NM_001130823.3(DNMT1):c.3831G>T (p.Arg1277=) rs1405376714
NM_001130823.3(DNMT1):c.3840C>G (p.Leu1280=) rs1436599621
NM_001130823.3(DNMT1):c.387C>T (p.Pro129=) rs369470867
NM_001130823.3(DNMT1):c.3901C>T (p.Arg1301Cys)
NM_001130823.3(DNMT1):c.3909G>A (p.Leu1303=)
NM_001130823.3(DNMT1):c.390A>G (p.Lys130=) rs373499917
NM_001130823.3(DNMT1):c.3936C>T (p.Phe1312=) rs367637414
NM_001130823.3(DNMT1):c.3939C>T (p.Gly1313=) rs142903301
NM_001130823.3(DNMT1):c.393C>T (p.Pro131=) rs143904813
NM_001130823.3(DNMT1):c.3975T>C (p.Thr1325=) rs768712864
NM_001130823.3(DNMT1):c.4032G>A (p.Pro1344=) rs150774582
NM_001130823.3(DNMT1):c.406C>T (p.Arg136Cys) rs138841970
NM_001130823.3(DNMT1):c.407G>A (p.Arg136His) rs775139340
NM_001130823.3(DNMT1):c.410C>T (p.Thr137Met) rs377146699
NM_001130823.3(DNMT1):c.4140C>T (p.Thr1380=) rs749741623
NM_001130823.3(DNMT1):c.4146G>A (p.Thr1382=) rs184125970
NM_001130823.3(DNMT1):c.4181G>A (p.Arg1394Gln)
NM_001130823.3(DNMT1):c.4193C>T (p.Ser1398Leu) rs375225009
NM_001130823.3(DNMT1):c.4216G>A (p.Gly1406Arg) rs1568220739
NM_001130823.3(DNMT1):c.4293+5T>C rs199506146
NM_001130823.3(DNMT1):c.4327C>A (p.His1443Asn) rs1255037718
NM_001130823.3(DNMT1):c.4368C>T (p.Pro1456=) rs2229858
NM_001130823.3(DNMT1):c.4427A>G (p.His1476Arg) rs765347113
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) rs142647321
NM_001130823.3(DNMT1):c.4483G>A (p.Val1495Met) rs781301028
NM_001130823.3(DNMT1):c.4503C>T (p.Cys1501=) rs149271718
NM_001130823.3(DNMT1):c.451A>G (p.Arg151Gly)
NM_001130823.3(DNMT1):c.4739G>A (p.Arg1580Gln) rs1568218498
NM_001130823.3(DNMT1):c.4741C>T (p.Leu1581Phe) rs1568218491
NM_001130823.3(DNMT1):c.4819G>A (p.Glu1607Lys) rs1568217087
NM_001130823.3(DNMT1):c.483T>C (p.Thr161=) rs764496230
NM_001130823.3(DNMT1):c.4860C>T (p.Ala1620=) rs576877219
NM_001130823.3(DNMT1):c.493+1G>A rs975957081
NM_001130823.3(DNMT1):c.493+7G>A rs1177224966
NM_001130823.3(DNMT1):c.493+8C>T rs138998574
NM_001130823.3(DNMT1):c.520A>C (p.Thr174Pro) rs201319352
NM_001130823.3(DNMT1):c.526A>C (p.Lys176Gln)
NM_001130823.3(DNMT1):c.527A>G (p.Lys176Arg)
NM_001130823.3(DNMT1):c.569+10C>T rs781605215
NM_001130823.3(DNMT1):c.56C>T (p.Ser19Leu) rs747559452
NM_001130823.3(DNMT1):c.633A>G (p.Glu211=) rs141264613
NM_001130823.3(DNMT1):c.63C>A (p.Pro21=) rs1245074338
NM_001130823.3(DNMT1):c.650A>G (p.Asp217Gly) rs1568249130
NM_001130823.3(DNMT1):c.687T>G (p.Val229=) rs61758429
NM_001130823.3(DNMT1):c.692G>A (p.Arg231Lys)
NM_001130823.3(DNMT1):c.695C>T (p.Pro232Leu)
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu) rs150999369
NM_001130823.3(DNMT1):c.734C>T (p.Thr245Met) rs143598088
NM_001130823.3(DNMT1):c.737G>A (p.Arg246His) rs771381056
NM_001130823.3(DNMT1):c.78G>C (p.Arg26Ser) rs780503694
NM_001130823.3(DNMT1):c.803C>T (p.Pro268Leu)
NM_001130823.3(DNMT1):c.856G>A (p.Val286Met) rs368960099
NM_001130823.3(DNMT1):c.857T>C (p.Val286Ala)
NM_001130823.3(DNMT1):c.874G>A (p.Glu292Lys) rs1257025095
NM_001130823.3(DNMT1):c.890A>G (p.Lys297Arg) rs201025441
NM_001130823.3(DNMT1):c.891+8C>T rs117294281
NM_001130823.3(DNMT1):c.894_896del (p.Asp298del) rs1568241116
NM_001130823.3(DNMT1):c.898A>C (p.Lys300Gln)
NM_001130823.3(DNMT1):c.919A>G (p.Lys307Glu) rs148831705
NM_001130823.3(DNMT1):c.925C>G (p.Leu309Val) rs61758430
NM_001130823.3(DNMT1):c.931G>T (p.Ala311Ser)
NM_001130823.3(DNMT1):c.938G>A (p.Arg313Gln)
NM_001130823.3(DNMT1):c.977A>C (p.Gln326Pro) rs143287044
NM_001130823.3(DNMT1):c.981T>G (p.Ile327Met) rs61758431
NM_001130823.3(DNMT1):c.996C>T (p.Asp332=) rs16999358

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