ClinVar Miner

List of variants in gene DNMT3A studied for multiple congenital anomalies/dysmorphic syndrome

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 427
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HGVS dbSNP gnomAD frequency
NM_175629.2(DNMT3A):c.-786T>C rs1550117 0.91538
NM_022552.5(DNMT3A):c.1122+7G>A rs2276599 0.69165
NM_022552.5(DNMT3A):c.1266G>A (p.Leu422=) rs2276598 0.21245
NM_022552.5(DNMT3A):c.27C>T (p.Pro9=) rs41284843 0.08237
NM_022552.5(DNMT3A):c.1140G>A (p.Ala380=) rs77345627 0.01450
NM_022552.5(DNMT3A):c.759C>T (p.Pro253=) rs77558739 0.00759
NM_022552.5(DNMT3A):c.89A>C (p.Glu30Ala) rs143730975 0.00459
NM_022552.5(DNMT3A):c.1280-7C>T rs151060791 0.00458
NM_022552.5(DNMT3A):c.1279+18G>A rs199507359 0.00322
NM_022552.5(DNMT3A):c.801C>T (p.Ser267=) rs116609083 0.00237
NM_022552.5(DNMT3A):c.1430-13C>T rs200380351 0.00180
NM_022552.5(DNMT3A):c.1170C>T (p.Ser390=) rs150182473 0.00138
NM_022552.5(DNMT3A):c.2688A>G (p.Pro896=) rs181757577 0.00123
NM_022552.5(DNMT3A):c.2151C>T (p.Asn717=) rs141216815 0.00068
NM_022552.5(DNMT3A):c.72+10G>A rs370534287 0.00064
NM_022552.5(DNMT3A):c.2478+13G>A rs143620117 0.00039
NM_022552.5(DNMT3A):c.1443C>T (p.Tyr481=) rs145465364 0.00038
NM_022552.5(DNMT3A):c.1502A>G (p.Asn501Ser) rs149738328 0.00035
NM_022552.5(DNMT3A):c.1385C>T (p.Ala462Val) rs200845575 0.00027
NM_022552.5(DNMT3A):c.72+9C>T rs758596753 0.00026
NM_022552.5(DNMT3A):c.639+6G>C rs559534512 0.00025
NM_022552.5(DNMT3A):c.1155G>A (p.Pro385=) rs368009374 0.00020
NM_022552.5(DNMT3A):c.1038G>A (p.Pro346=) rs199924489 0.00018
NM_022552.5(DNMT3A):c.1164C>T (p.His388=) rs138150208 0.00018
NM_022552.5(DNMT3A):c.131C>T (p.Thr44Met) rs199643287 0.00014
NM_022552.5(DNMT3A):c.1491T>C (p.Cys497=) rs375421208 0.00014
NM_022552.5(DNMT3A):c.1555-13C>T rs763521408 0.00014
NM_022552.5(DNMT3A):c.1677C>T (p.Cys559=) rs775908350 0.00013
NM_022552.5(DNMT3A):c.2697C>T (p.Arg899=) rs61758432 0.00013
NM_022552.5(DNMT3A):c.2658G>A (p.Gln886=) rs375544980 0.00011
NM_022552.5(DNMT3A):c.2331T>C (p.Pro777=) rs758014471 0.00009
NM_022552.5(DNMT3A):c.1344C>T (p.Tyr448=) rs137931376 0.00007
NM_022552.5(DNMT3A):c.1074G>A (p.Thr358=) rs200905691 0.00006
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp) rs144689354 0.00006
NM_022552.5(DNMT3A):c.2711C>T (p.Pro904Leu) rs149095705 0.00006
NM_022552.5(DNMT3A):c.287G>A (p.Arg96Gln) rs771499883 0.00006
NM_022552.5(DNMT3A):c.386C>T (p.Ser129Leu) rs1008365985 0.00006
NM_022552.5(DNMT3A):c.76G>A (p.Gly26Arg) rs781524740 0.00006
NM_022552.5(DNMT3A):c.1575G>A (p.Ala525=) rs771486108 0.00005
NM_022552.5(DNMT3A):c.576G>A (p.Ala192=) rs1390745466 0.00005
NM_022552.5(DNMT3A):c.2083-20C>T rs778981805 0.00004
NM_022552.5(DNMT3A):c.2311C>T (p.Arg771Ter) rs779626155 0.00004
NM_022552.5(DNMT3A):c.2598-3C>T rs371855601 0.00004
NM_022552.5(DNMT3A):c.2601A>C (p.Val867=) rs141606269 0.00004
NM_022552.5(DNMT3A):c.2628C>T (p.Asp876=) rs368516543 0.00004
NM_022552.5(DNMT3A):c.2652G>A (p.Ala884=) rs537647207 0.00004
NM_022552.5(DNMT3A):c.2712G>A (p.Pro904=) rs538669211 0.00004
NM_022552.5(DNMT3A):c.448+7C>T rs773465605 0.00004
NM_022552.5(DNMT3A):c.835G>A (p.Asp279Asn) rs1203141216 0.00004
NM_022552.5(DNMT3A):c.1904G>A (p.Arg635Gln) rs751562376 0.00003
NM_022552.5(DNMT3A):c.2207G>A (p.Arg736His) rs139293773 0.00003
NM_022552.5(DNMT3A):c.2309C>T (p.Ser770Leu) rs758845779 0.00003
NM_022552.5(DNMT3A):c.2676A>G (p.Ser892=) rs763189481 0.00003
NM_022552.5(DNMT3A):c.36C>T (p.Thr12=) rs755420185 0.00003
NM_022552.5(DNMT3A):c.1097G>A (p.Arg366His) rs767236033 0.00002
NM_022552.5(DNMT3A):c.1122+3G>A rs189798836 0.00002
NM_022552.5(DNMT3A):c.16T>G (p.Ser6Ala) rs773893946 0.00002
NM_022552.5(DNMT3A):c.1706C>T (p.Pro569Leu) rs772310511 0.00002
NM_022552.5(DNMT3A):c.1792C>T (p.Arg598Ter) rs568207978 0.00002
NM_022552.5(DNMT3A):c.2083-19G>A rs770979875 0.00002
NM_022552.5(DNMT3A):c.2141C>G (p.Ser714Cys) rs367909007 0.00002
NM_022552.5(DNMT3A):c.2206C>T (p.Arg736Cys) rs761934754 0.00002
NM_022552.5(DNMT3A):c.447G>A (p.Ala149=) rs763553315 0.00002
NM_022552.5(DNMT3A):c.51G>A (p.Ala17=) rs1055980301 0.00002
NM_022552.5(DNMT3A):c.558G>A (p.Pro186=) rs748092122 0.00002
NM_022552.5(DNMT3A):c.73-18C>T rs769373878 0.00002
NM_022552.5(DNMT3A):c.852C>T (p.Tyr284=) rs770004816 0.00002
NM_022552.5(DNMT3A):c.958C>T (p.Arg320Ter) rs778270132 0.00002
NM_022552.5(DNMT3A):c.113G>A (p.Arg38His) rs369618387 0.00001
NM_022552.5(DNMT3A):c.1194C>T (p.Ala398=) rs771414753 0.00001
NM_022552.5(DNMT3A):c.120G>A (p.Glu40=) rs202118149 0.00001
NM_022552.5(DNMT3A):c.1243C>T (p.Gln415Ter) rs754223052 0.00001
NM_022552.5(DNMT3A):c.1345G>A (p.Ala449Thr) rs745406398 0.00001
NM_022552.5(DNMT3A):c.1555-1G>A rs759936287 0.00001
NM_022552.5(DNMT3A):c.1743G>T (p.Trp581Cys) rs769419803 0.00001
NM_022552.5(DNMT3A):c.1787G>A (p.Arg596Gln) rs899717364 0.00001
NM_022552.5(DNMT3A):c.187G>A (p.Gly63Ser) rs781108426 0.00001
NM_022552.5(DNMT3A):c.1937-2A>G rs770305758 0.00001
NM_022552.5(DNMT3A):c.1976G>A (p.Arg659His) rs752434188 0.00001
NM_022552.5(DNMT3A):c.2026C>T (p.Arg676Trp) rs375399431 0.00001
NM_022552.5(DNMT3A):c.2059G>A (p.Val687Ile) rs1183198167 0.00001
NM_022552.5(DNMT3A):c.2063G>A (p.Arg688His) rs369713081 0.00001
NM_022552.5(DNMT3A):c.2086C>T (p.Gln696Ter) rs750325978 0.00001
NM_022552.5(DNMT3A):c.210G>A (p.Ala70=) rs779711186 0.00001
NM_022552.5(DNMT3A):c.2232G>A (p.Lys744=) rs944224150 0.00001
NM_022552.5(DNMT3A):c.240G>A (p.Gln80=) rs528145106 0.00001
NM_022552.5(DNMT3A):c.2678G>A (p.Trp893Ter) rs750515748 0.00001
NM_022552.5(DNMT3A):c.270T>C (p.Asn90=) rs1162728512 0.00001
NM_022552.5(DNMT3A):c.343C>G (p.Pro115Ala) rs1170030002 0.00001
NM_022552.5(DNMT3A):c.609G>C (p.Arg203=) rs1440660785 0.00001
NM_022552.5(DNMT3A):c.694G>A (p.Gly232Arg) rs916077424 0.00001
NM_022552.5(DNMT3A):c.700G>A (p.Gly234Arg) rs757912991 0.00001
NM_022552.5(DNMT3A):c.736G>A (p.Ala246Thr) rs1378389616 0.00001
NM_022552.5(DNMT3A):c.765C>T (p.Ser255=) rs768369047 0.00001
NM_022552.5(DNMT3A):c.792C>T (p.Pro264=) rs756740383 0.00001
NM_022552.5(DNMT3A):c.856-10G>A rs913561874 0.00001
NM_022552.5(DNMT3A):c.875T>C (p.Ile292Thr) rs777306476 0.00001
NM_022552.5(DNMT3A):c.98G>A (p.Arg33His) rs746009417 0.00001
GRCh37/hg19 2p23.3(chr2:25464105-25581265)
NC_000002.11:g.(?_25458556)_(25458714_?)del
NC_000002.11:g.(?_25497790)_(25498432_?)del
NC_000002.11:g.(?_25522988)_(25536853_?)del
NC_000002.12:g.(?_25300139)_(25300243_?)del
NM_022552.5(DNMT3A):c.1000G>A (p.Gly334Ser)
NM_022552.5(DNMT3A):c.1004A>G (p.Lys335Arg) rs2149307214
NM_022552.5(DNMT3A):c.1004_1011del (p.Lys335fs)
NM_022552.5(DNMT3A):c.1006T>C (p.Phe336Leu)
NM_022552.5(DNMT3A):c.1014+19C>T
NM_022552.5(DNMT3A):c.1015-3del
NM_022552.5(DNMT3A):c.1015-4C>T rs771608861
NM_022552.5(DNMT3A):c.1015-8C>A
NM_022552.5(DNMT3A):c.1015-9T>C
NM_022552.5(DNMT3A):c.102C>T (p.Gly34=)
NM_022552.5(DNMT3A):c.1047G>A (p.Ser349=)
NM_022552.5(DNMT3A):c.1055G>A (p.Ser352Asn)
NM_022552.5(DNMT3A):c.1057G>A (p.Ala353Thr) rs2149305402
NM_022552.5(DNMT3A):c.1059G>A (p.Ala353=)
NM_022552.5(DNMT3A):c.1060_1069del (p.Phe354fs) rs1558671136
NM_022552.5(DNMT3A):c.1074G>T (p.Thr358=) rs200905691
NM_022552.5(DNMT3A):c.1078_1095dup (p.Tyr365_Arg366insAsnLysGlnProMetTyr)
NM_022552.5(DNMT3A):c.1102G>A (p.Ala368Thr)
NM_022552.5(DNMT3A):c.1110C>T (p.Tyr370=)
NM_022552.5(DNMT3A):c.1114G>A (p.Val372Ile)
NM_022552.5(DNMT3A):c.1116C>T (p.Val372=)
NM_022552.5(DNMT3A):c.1122+15T>A
NM_022552.5(DNMT3A):c.1122+17G>A rs2149304814
NM_022552.5(DNMT3A):c.1122+9C>A
NM_022552.5(DNMT3A):c.1123-10C>T
NM_022552.5(DNMT3A):c.1123-12G>A
NM_022552.5(DNMT3A):c.1123-14G>A
NM_022552.5(DNMT3A):c.1123-15C>T
NM_022552.5(DNMT3A):c.1123-4C>T
NM_022552.5(DNMT3A):c.1123-9A>G
NM_022552.5(DNMT3A):c.1127C>A (p.Ala376Asp)
NM_022552.5(DNMT3A):c.112C>T (p.Arg38Cys)
NM_022552.5(DNMT3A):c.1137C>T (p.Arg379=)
NM_022552.5(DNMT3A):c.1138G>A (p.Ala380Thr)
NM_022552.5(DNMT3A):c.113G>T (p.Arg38Leu)
NM_022552.5(DNMT3A):c.1140G>C (p.Ala380=)
NM_022552.5(DNMT3A):c.1143G>A (p.Gly381=)
NM_022552.5(DNMT3A):c.1148T>C (p.Leu383Pro)
NM_022552.5(DNMT3A):c.1149G>A (p.Leu383=)
NM_022552.5(DNMT3A):c.1151del (p.Phe384fs)
NM_022552.5(DNMT3A):c.1152C>T (p.Phe384=)
NM_022552.5(DNMT3A):c.1154C>T (p.Pro385Leu)
NM_022552.5(DNMT3A):c.120G>T (p.Glu40Asp)
NM_022552.5(DNMT3A):c.122C>T (p.Pro41Leu) rs1398341368
NM_022552.5(DNMT3A):c.1231C>T (p.Leu411=)
NM_022552.5(DNMT3A):c.1238dup (p.Phe414fs) rs755744291
NM_022552.5(DNMT3A):c.1242C>T (p.Phe414=)
NM_022552.5(DNMT3A):c.1243del (p.Gln415fs) rs1558669964
NM_022552.5(DNMT3A):c.1245G>A (p.Gln415=)
NM_022552.5(DNMT3A):c.1258A>T (p.Lys420Ter)
NM_022552.5(DNMT3A):c.1267G>T (p.Glu423Ter)
NM_022552.5(DNMT3A):c.1270C>T (p.Pro424Ser)
NM_022552.5(DNMT3A):c.1274C>T (p.Pro425Leu) rs1674807447
NM_022552.5(DNMT3A):c.1279+13A>C
NM_022552.5(DNMT3A):c.1279G>T (p.Glu427Ter)
NM_022552.5(DNMT3A):c.1280A>G (p.Glu427Gly)
NM_022552.5(DNMT3A):c.1289A>G (p.Asn430Ser)
NM_022552.5(DNMT3A):c.128C>T (p.Thr43Ile)
NM_022552.5(DNMT3A):c.1305G>A (p.Val435=)
NM_022552.5(DNMT3A):c.1310C>T (p.Thr437Met)
NM_022552.5(DNMT3A):c.1311G>A (p.Thr437=)
NM_022552.5(DNMT3A):c.1317G>A (p.Met439Ile)
NM_022552.5(DNMT3A):c.1342_1343dup (p.Ala449fs)
NM_022552.5(DNMT3A):c.1353_1356dup (p.Pro453fs)
NM_022552.5(DNMT3A):c.1363A>T (p.Lys455Ter) rs1674744924
NM_022552.5(DNMT3A):c.1367del (p.Lys456fs)
NM_022552.5(DNMT3A):c.137G>A (p.Arg46Gln) rs1573454800
NM_022552.5(DNMT3A):c.1383A>G (p.Thr461=)
NM_022552.5(DNMT3A):c.1395C>T (p.Pro465=)
NM_022552.5(DNMT3A):c.13C>T (p.Pro5Ser)
NM_022552.5(DNMT3A):c.1421G>A (p.Arg474His)
NM_022552.5(DNMT3A):c.1429+17T>C
NM_022552.5(DNMT3A):c.1430-14T>C
NM_022552.5(DNMT3A):c.1430-1G>C
NM_022552.5(DNMT3A):c.1446G>T (p.Glu482Asp)
NM_022552.5(DNMT3A):c.1474+19A>C
NM_022552.5(DNMT3A):c.1475-19C>T
NM_022552.5(DNMT3A):c.1475-4C>G
NM_022552.5(DNMT3A):c.147G>T (p.Gly49=)
NM_022552.5(DNMT3A):c.1481G>C (p.Cys494Ser)
NM_022552.5(DNMT3A):c.148C>T (p.Arg50Trp)
NM_022552.5(DNMT3A):c.1490G>C (p.Cys497Ser) rs779323387
NM_022552.5(DNMT3A):c.1510del (p.Leu504fs) rs1553412880
NM_022552.5(DNMT3A):c.1521C>T (p.Pro507=)
NM_022552.5(DNMT3A):c.1523T>C (p.Leu508Pro)
NM_022552.5(DNMT3A):c.1528G>A (p.Val510Ile)
NM_022552.5(DNMT3A):c.1532dup (p.Gly512fs)
NM_022552.5(DNMT3A):c.1545A>G (p.Gln515=)
NM_022552.5(DNMT3A):c.1550G>A (p.Cys517Tyr)
NM_022552.5(DNMT3A):c.1554+12C>A
NM_022552.5(DNMT3A):c.1554+1G>A rs766110518
NM_022552.5(DNMT3A):c.1555-37_1555-18del
NM_022552.5(DNMT3A):c.1555-8C>T
NM_022552.5(DNMT3A):c.1581G>A (p.Gln527=)
NM_022552.5(DNMT3A):c.1584C>T (p.Tyr528=)
NM_022552.5(DNMT3A):c.1587C>T (p.Asp529=)
NM_022552.5(DNMT3A):c.158G>A (p.Arg53Lys)
NM_022552.5(DNMT3A):c.1593C>T (p.Asp531=)
NM_022552.5(DNMT3A):c.1596C>A (p.Gly532=)
NM_022552.5(DNMT3A):c.1611C>T (p.Cys537=)
NM_022552.5(DNMT3A):c.1627G>A (p.Gly543Ser)
NM_022552.5(DNMT3A):c.1627G>C (p.Gly543Arg)
NM_022552.5(DNMT3A):c.1628dup (p.Arg544fs) rs1164367418
NM_022552.5(DNMT3A):c.162G>A (p.Lys54=)
NM_022552.5(DNMT3A):c.1632T>G (p.Arg544=)
NM_022552.5(DNMT3A):c.1634A>G (p.Glu545Gly) rs1553412485
NM_022552.5(DNMT3A):c.1643T>A (p.Met548Lys) rs587777509
NM_022552.5(DNMT3A):c.1647C>A (p.Cys549Ter) rs574130689
NM_022552.5(DNMT3A):c.164G>A (p.Arg55His)
NM_022552.5(DNMT3A):c.1667+16C>A
NM_022552.5(DNMT3A):c.1667+1G>A
NM_022552.5(DNMT3A):c.1667+3G>A
NM_022552.5(DNMT3A):c.1668-12G>A
NM_022552.5(DNMT3A):c.1669T>C (p.Cys557Arg)
NM_022552.5(DNMT3A):c.1675T>C (p.Cys559Arg)
NM_022552.5(DNMT3A):c.1684T>C (p.Cys562Arg) rs1057520788
NM_022552.5(DNMT3A):c.1684T>G (p.Cys562Gly)
NM_022552.5(DNMT3A):c.1711dup (p.Ala571fs) rs1558665485
NM_022552.5(DNMT3A):c.1716C>G (p.Ala572=)
NM_022552.5(DNMT3A):c.174C>T (p.Pro58=)
NM_022552.5(DNMT3A):c.1757G>A (p.Cys586Tyr)
NM_022552.5(DNMT3A):c.1757G>T (p.Cys586Phe) rs754506713
NM_022552.5(DNMT3A):c.1758C>T (p.Cys586=)
NM_022552.5(DNMT3A):c.1759G>A (p.Gly587Arg)
NM_022552.5(DNMT3A):c.1766A>G (p.Lys589Arg)
NM_022552.5(DNMT3A):c.177+10A>G
NM_022552.5(DNMT3A):c.1776C>T (p.Tyr592=)
NM_022552.5(DNMT3A):c.1778G>A (p.Gly593Glu)
NM_022552.5(DNMT3A):c.1790G>A (p.Arg597Gln)
NM_022552.5(DNMT3A):c.1791del (p.Arg598fs) rs2149289125
NM_022552.5(DNMT3A):c.1792dup (p.Arg598fs)
NM_022552.5(DNMT3A):c.1810C>T (p.Arg604Trp)
NM_022552.5(DNMT3A):c.1817A>G (p.Gln606Arg)
NM_022552.5(DNMT3A):c.1827C>T (p.Phe609=)
NM_022552.5(DNMT3A):c.1851+19G>T
NM_022552.5(DNMT3A):c.1851+20C>T
NM_022552.5(DNMT3A):c.1851+3G>C rs2149288538
NM_022552.5(DNMT3A):c.1852-5C>T
NM_022552.5(DNMT3A):c.1852-9A>G
NM_022552.5(DNMT3A):c.1854C>T (p.Asp618=)
NM_022552.5(DNMT3A):c.185G>A (p.Ser62Asn)
NM_022552.5(DNMT3A):c.1860A>G (p.Pro620=)
NM_022552.5(DNMT3A):c.1867del (p.Tyr623fs) rs1553412022
NM_022552.5(DNMT3A):c.186C>T (p.Ser62=)
NM_022552.5(DNMT3A):c.1895A>G (p.Lys632Arg) rs2149287247
NM_022552.5(DNMT3A):c.1899C>T (p.Pro633=)
NM_022552.5(DNMT3A):c.1910T>C (p.Leu637Pro)
NM_022552.5(DNMT3A):c.1913C>G (p.Ser638Cys) rs1253868717
NM_022552.5(DNMT3A):c.1925G>T (p.Gly642Val)
NM_022552.5(DNMT3A):c.1925del (p.Gly642fs)
NM_022552.5(DNMT3A):c.1934C>T (p.Thr645Ile)
NM_022552.5(DNMT3A):c.1935_1936del (p.Gly646fs)
NM_022552.5(DNMT3A):c.1937-18_1937-17delinsTC
NM_022552.5(DNMT3A):c.1943T>C (p.Leu648Pro) rs587777507
NM_022552.5(DNMT3A):c.194C>T (p.Thr65Met)
NM_022552.5(DNMT3A):c.1956C>T (p.Asp652=)
NM_022552.5(DNMT3A):c.1978T>C (p.Tyr660His) rs1674056899
NM_022552.5(DNMT3A):c.1989G>A (p.Ser663=)
NM_022552.5(DNMT3A):c.19A>G (p.Ser7Gly)
NM_022552.5(DNMT3A):c.2009T>C (p.Ile670Thr)
NM_022552.5(DNMT3A):c.2013G>A (p.Thr671=)
NM_022552.5(DNMT3A):c.2037G>C (p.Gly679=)
NM_022552.5(DNMT3A):c.2053G>A (p.Gly685Arg)
NM_022552.5(DNMT3A):c.2062C>T (p.Arg688Cys) rs1484795800
NM_022552.5(DNMT3A):c.2067C>T (p.Ser689=)
NM_022552.5(DNMT3A):c.2082+20C>T
NM_022552.5(DNMT3A):c.2083-19G>C
NM_022552.5(DNMT3A):c.209C>T (p.Ala70Val)
NM_022552.5(DNMT3A):c.2105A>G (p.Asp702Gly)
NM_022552.5(DNMT3A):c.2115T>C (p.Ile705=)
NM_022552.5(DNMT3A):c.2153del (p.Pro718fs)
NM_022552.5(DNMT3A):c.2174-10G>A
NM_022552.5(DNMT3A):c.2174-11C>T
NM_022552.5(DNMT3A):c.2177G>T (p.Gly726Val)
NM_022552.5(DNMT3A):c.2181T>C (p.Thr727=)
NM_022552.5(DNMT3A):c.2186G>A (p.Arg729Gln)
NM_022552.5(DNMT3A):c.2190CTT[1] (p.Phe732del)
NM_022552.5(DNMT3A):c.2196dup (p.Glu733Ter)
NM_022552.5(DNMT3A):c.21C>T (p.Ser7=)
NM_022552.5(DNMT3A):c.2204A>C (p.Tyr735Ser)
NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys) rs147828672
NM_022552.5(DNMT3A):c.2211C>G (p.Leu737=)
NM_022552.5(DNMT3A):c.2245C>A (p.Arg749Ser)
NM_022552.5(DNMT3A):c.2245C>T (p.Arg749Cys)
NM_022552.5(DNMT3A):c.2259G>A (p.Trp753Ter)
NM_022552.5(DNMT3A):c.2287G>A (p.Val763Ile)
NM_022552.5(DNMT3A):c.228A>G (p.Pro76=)
NM_022552.5(DNMT3A):c.230C>T (p.Ser77Phe) rs2031973986
NM_022552.5(DNMT3A):c.2310G>A (p.Ser770=)
NM_022552.5(DNMT3A):c.2311C>G (p.Arg771Gly)
NM_022552.5(DNMT3A):c.2312G>A (p.Arg771Gln) rs757823678
NM_022552.5(DNMT3A):c.2322+1G>A rs903011938
NM_022552.5(DNMT3A):c.2323-16G>A
NM_022552.5(DNMT3A):c.2323-17C>T
NM_022552.5(DNMT3A):c.2323-19dup
NM_022552.5(DNMT3A):c.232A>G (p.Met78Val)
NM_022552.5(DNMT3A):c.2373C>T (p.Ala791=)
NM_022552.5(DNMT3A):c.237C>A (p.Ala79=)
NM_022552.5(DNMT3A):c.2385G>A (p.Trp795Ter) rs1395575712
NM_022552.5(DNMT3A):c.2387del (p.Gly796fs)
NM_022552.5(DNMT3A):c.2408+14C>T
NM_022552.5(DNMT3A):c.2409-1G>A rs866917013
NM_022552.5(DNMT3A):c.2409-2A>T
NM_022552.5(DNMT3A):c.2411C>A (p.Pro804Gln) rs750597155
NM_022552.5(DNMT3A):c.2412G>A (p.Pro804=)
NM_022552.5(DNMT3A):c.2412G>C (p.Pro804=)
NM_022552.5(DNMT3A):c.2416G>A (p.Ala806Thr)
NM_022552.5(DNMT3A):c.2438T>C (p.Leu813Pro)
NM_022552.5(DNMT3A):c.2446C>G (p.Gln816Glu)
NM_022552.5(DNMT3A):c.2474C>T (p.Ala825Val)
NM_022552.5(DNMT3A):c.2478+12C>T
NM_022552.5(DNMT3A):c.2479-15C>T
NM_022552.5(DNMT3A):c.2479-1G>A
NM_022552.5(DNMT3A):c.248G>A (p.Gly83Asp)
NM_022552.5(DNMT3A):c.2495C>T (p.Thr832Ile) rs1573297136
NM_022552.5(DNMT3A):c.249C>T (p.Gly83=)
NM_022552.5(DNMT3A):c.250G>A (p.Ala84Thr)
NM_022552.5(DNMT3A):c.2525A>G (p.Gln842Arg) rs771174392
NM_022552.5(DNMT3A):c.2538G>A (p.Gln846=) rs2149257629
NM_022552.5(DNMT3A):c.2540_2541del (p.His847fs) rs1558653090
NM_022552.5(DNMT3A):c.2546C>A (p.Pro849His) rs1673285954
NM_022552.5(DNMT3A):c.2593_2594del (p.Glu865fs)
NM_022552.5(DNMT3A):c.2597+12G>T
NM_022552.5(DNMT3A):c.2597+1G>A
NM_022552.5(DNMT3A):c.2597+3A>G rs1302882446
NM_022552.5(DNMT3A):c.2597+7G>A
NM_022552.5(DNMT3A):c.2598-1G>C
NM_022552.5(DNMT3A):c.2598-7C>T rs756540099
NM_022552.5(DNMT3A):c.2609del (p.Phe870fs)
NM_022552.5(DNMT3A):c.2622T>C (p.Tyr874=)
NM_022552.5(DNMT3A):c.2643C>T (p.Ser881=)
NM_022552.5(DNMT3A):c.2644C>A (p.Arg882Ser) rs377577594
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_022552.5(DNMT3A):c.2647T>C (p.Leu883=)
NM_022552.5(DNMT3A):c.2659A>C (p.Arg887=) rs755252969
NM_022552.5(DNMT3A):c.265C>T (p.Pro89Ser) rs2031969934
NM_022552.5(DNMT3A):c.267C>T (p.Pro89=)
NM_022552.5(DNMT3A):c.2682C>T (p.Ser894=)
NM_022552.5(DNMT3A):c.2695C>T (p.Arg899Cys)
NM_022552.5(DNMT3A):c.269A>G (p.Asn90Ser)
NM_022552.5(DNMT3A):c.2703C>G (p.Leu901=)
NM_022552.5(DNMT3A):c.2705T>C (p.Phe902Ser) rs587777510
NM_022552.5(DNMT3A):c.2707G>C (p.Ala903Pro)
NM_022552.5(DNMT3A):c.2730G>A (p.Ala910=)
NM_022552.5(DNMT3A):c.2738A>G (p.Ter913=)
NM_022552.5(DNMT3A):c.27del (p.Asp11fs)
NM_022552.5(DNMT3A):c.296C>T (p.Pro99Leu)
NM_022552.5(DNMT3A):c.300G>A (p.Gln100=)
NM_022552.5(DNMT3A):c.309G>A (p.Glu103=)
NM_022552.5(DNMT3A):c.322G>A (p.Gly108Arg)
NM_022552.5(DNMT3A):c.323G>C (p.Gly108Ala)
NM_022552.5(DNMT3A):c.324G>A (p.Gly108=)
NM_022552.5(DNMT3A):c.336C>T (p.Gly112=)
NM_022552.5(DNMT3A):c.337G>A (p.Gly113Arg)
NM_022552.5(DNMT3A):c.353G>C (p.Gly118Ala)
NM_022552.5(DNMT3A):c.364G>A (p.Ala122Thr)
NM_022552.5(DNMT3A):c.367G>C (p.Glu123Gln)
NM_022552.5(DNMT3A):c.371C>T (p.Thr124Ile)
NM_022552.5(DNMT3A):c.373C>G (p.Leu125Val)
NM_022552.5(DNMT3A):c.374T>C (p.Leu125Pro)
NM_022552.5(DNMT3A):c.427C>T (p.Arg143Ter) rs1352259738
NM_022552.5(DNMT3A):c.428G>A (p.Arg143Gln)
NM_022552.5(DNMT3A):c.445G>A (p.Ala149Thr)
NM_022552.5(DNMT3A):c.446C>T (p.Ala149Val) rs767055283
NM_022552.5(DNMT3A):c.493-14T>G
NM_022552.5(DNMT3A):c.493-15G>A
NM_022552.5(DNMT3A):c.50C>T (p.Ala17Val)
NM_022552.5(DNMT3A):c.55C>T (p.Arg19Trp)
NM_022552.5(DNMT3A):c.582C>T (p.Asp194=)
NM_022552.5(DNMT3A):c.625C>G (p.Arg209Gly)
NM_022552.5(DNMT3A):c.625C>T (p.Arg209Cys)
NM_022552.5(DNMT3A):c.629G>A (p.Trp210Ter)
NM_022552.5(DNMT3A):c.639+6G>A rs559534512
NM_022552.5(DNMT3A):c.639+7C>T
NM_022552.5(DNMT3A):c.640-10G>T
NM_022552.5(DNMT3A):c.640-17G>C
NM_022552.5(DNMT3A):c.640-5C>T
NM_022552.5(DNMT3A):c.656A>G (p.Lys219Arg) rs950156492
NM_022552.5(DNMT3A):c.660C>A (p.Val220=)
NM_022552.5(DNMT3A):c.662T>C (p.Ile221Thr)
NM_022552.5(DNMT3A):c.669A>T (p.Gly223=)
NM_022552.5(DNMT3A):c.67C>T (p.Arg23Ter) rs2034255903
NM_022552.5(DNMT3A):c.68G>A (p.Arg23Gln)
NM_022552.5(DNMT3A):c.696G>A (p.Gly232=)
NM_022552.5(DNMT3A):c.699C>T (p.Pro233=)
NM_022552.5(DNMT3A):c.706T>C (p.Ser236Pro)
NM_022552.5(DNMT3A):c.72+10G>C
NM_022552.5(DNMT3A):c.721G>A (p.Glu241Lys)
NM_022552.5(DNMT3A):c.73-8G>T
NM_022552.5(DNMT3A):c.733C>A (p.Pro245Thr)
NM_022552.5(DNMT3A):c.735del (p.Ala246fs) rs1553414406
NM_022552.5(DNMT3A):c.751A>C (p.Thr251Pro)
NM_022552.5(DNMT3A):c.75C>T (p.Asp25=)
NM_022552.5(DNMT3A):c.768C>T (p.Pro256=) rs532245832
NM_022552.5(DNMT3A):c.793G>A (p.Val265Met)
NM_022552.5(DNMT3A):c.7G>A (p.Ala3Thr)
NM_022552.5(DNMT3A):c.801C>G (p.Ser267=)
NM_022552.5(DNMT3A):c.806C>G (p.Ala269Gly)
NM_022552.5(DNMT3A):c.834C>T (p.Gly278=)
NM_022552.5(DNMT3A):c.838G>A (p.Asp280Asn)
NM_022552.5(DNMT3A):c.838G>T (p.Asp280Tyr)
NM_022552.5(DNMT3A):c.840C>T (p.Asp280=)
NM_022552.5(DNMT3A):c.853G>T (p.Glu285Ter)
NM_022552.5(DNMT3A):c.855+1G>A rs772041639
NM_022552.5(DNMT3A):c.855+6C>T
NM_022552.5(DNMT3A):c.855+7G>A
NM_022552.5(DNMT3A):c.855G>A (p.Glu285=) rs1573342453
NM_022552.5(DNMT3A):c.856-14C>T
NM_022552.5(DNMT3A):c.856-7G>A
NM_022552.5(DNMT3A):c.867_870del (p.Phe290fs)
NM_022552.5(DNMT3A):c.889_891del (p.Trp297del) rs587777506
NM_022552.5(DNMT3A):c.890G>A (p.Trp297Ter) rs944608317
NM_022552.5(DNMT3A):c.895A>C (p.Lys299Gln) rs766858016
NM_022552.5(DNMT3A):c.89A>G (p.Glu30Gly)
NM_022552.5(DNMT3A):c.911_913del (p.Ser304del) rs1674984864
NM_022552.5(DNMT3A):c.920C>T (p.Pro307Leu) rs759380437
NM_022552.5(DNMT3A):c.929T>A (p.Ile310Asn) rs587777508
NM_022552.5(DNMT3A):c.96G>A (p.Pro32=)
NM_022552.5(DNMT3A):c.97C>T (p.Arg33Cys)
NM_022552.5(DNMT3A):c.993C>T (p.Phe331=)
NM_022552.5(DNMT3A):c.994G>A (p.Gly332Arg) rs760854242
NM_022552.5(DNMT3A):c.999C>T (p.Asp333=)
Single allele

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