ClinVar Miner

List of variants in gene DNMT3A reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 194
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HGVS dbSNP gnomAD frequency
NM_022552.5(DNMT3A):c.1122+7G>A rs2276599 0.69165
NM_022552.5(DNMT3A):c.640-1663G>A rs11681447 0.68029
NM_022552.5(DNMT3A):c.1852-37C>A rs2289093 0.67945
NM_022552.5(DNMT3A):c.2083-272G>A rs734693 0.65288
NM_022552.5(DNMT3A):c.639+125_639+126insG rs367544298 0.48873
NM_022552.5(DNMT3A):c.2597+197C>T rs10084238 0.45838
NM_022552.5(DNMT3A):c.2597+30G>A rs2304429 0.45245
NM_022552.5(DNMT3A):c.2173+26C>T rs2289195 0.41532
NM_022552.5(DNMT3A):c.178-213A>G rs72810068 0.28778
NM_022552.5(DNMT3A):c.1266G>A (p.Leu422=) rs2276598 0.21245
NM_022552.5(DNMT3A):c.2323-243G>C rs72810046 0.13413
NM_022552.5(DNMT3A):c.73-84A>G rs7596387 0.12141
NM_022552.5(DNMT3A):c.640-49del rs3216707 0.09883
NM_022552.5(DNMT3A):c.27C>T (p.Pro9=) rs41284843 0.08237
NM_022552.5(DNMT3A):c.177+213C>T rs114974509 0.07209
NM_022552.5(DNMT3A):c.2322+183C>T rs79501006 0.04961
NM_022552.5(DNMT3A):c.2479-159T>C rs79478703 0.04818
NM_022552.5(DNMT3A):c.449-153G>C rs55896493 0.04644
NM_022552.5(DNMT3A):c.1554+255A>T rs112056585 0.01972
NM_022552.5(DNMT3A):c.1140G>A (p.Ala380=) rs77345627 0.01450
NM_022552.5(DNMT3A):c.177+339C>T rs144581642 0.01343
NM_022552.5(DNMT3A):c.73-234G>C rs7580143 0.01321
NM_022552.5(DNMT3A):c.2408+223T>C rs141473447 0.00783
NM_022552.5(DNMT3A):c.759C>T (p.Pro253=) rs77558739 0.00759
NM_022552.5(DNMT3A):c.178-300G>A rs7586220 0.00728
NM_022552.5(DNMT3A):c.72+162G>A rs75195324 0.00627
NM_022552.5(DNMT3A):c.2409-172C>T rs78444080 0.00540
NM_022552.5(DNMT3A):c.2409-127G>C rs147193357 0.00528
NM_022552.5(DNMT3A):c.2597+78T>C rs115238942 0.00476
NM_022552.5(DNMT3A):c.2322+118G>A rs115956315 0.00461
NM_022552.5(DNMT3A):c.89A>C (p.Glu30Ala) rs143730975 0.00459
NM_022552.5(DNMT3A):c.1279+143G>A rs141015823 0.00458
NM_022552.5(DNMT3A):c.1280-7C>T rs151060791 0.00458
NM_022552.5(DNMT3A):c.493-111G>T rs183113266 0.00402
NM_022552.5(DNMT3A):c.493-171C>G rs188194391 0.00402
NM_022552.5(DNMT3A):c.2409-290T>C rs182372453 0.00348
NM_022552.5(DNMT3A):c.640-155T>C rs537321320 0.00324
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.-177-158G>A rs1018324007 0.00226
NM_022552.5(DNMT3A):c.1430-13C>T rs200380351 0.00180
NM_022552.5(DNMT3A):c.2598-62G>A rs77496230 0.00144
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.-6G>A rs148146288 0.00048
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.639+6G>C rs559534512 0.00025
NM_022552.5(DNMT3A):c.1155G>A (p.Pro385=) rs368009374 0.00020
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.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.76G>A (p.Gly26Arg) rs781524740 0.00006
NM_022552.5(DNMT3A):c.2311C>T (p.Arg771Ter) rs779626155 0.00004
NM_022552.5(DNMT3A):c.2601A>C (p.Val867=) rs141606269 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.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.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.2206C>T (p.Arg736Cys) rs761934754 0.00002
NM_022552.5(DNMT3A):c.558G>A (p.Pro186=) rs748092122 0.00002
NM_022552.5(DNMT3A):c.1015-2A>G rs920946076 0.00001
NM_022552.5(DNMT3A):c.1135C>T (p.Arg379Cys) rs754459010 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.1743G>T (p.Trp581Cys) rs769419803 0.00001
NM_022552.5(DNMT3A):c.1748G>A (p.Cys583Tyr) rs748082838 0.00001
NM_022552.5(DNMT3A):c.1907T>A (p.Val636Glu) rs929806900 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.2063G>A (p.Arg688His) rs369713081 0.00001
NM_022552.5(DNMT3A):c.210G>A (p.Ala70=) rs779711186 0.00001
NM_022552.5(DNMT3A):c.2478+1G>A rs762213449 0.00001
NM_022552.5(DNMT3A):c.626G>A (p.Arg209His) rs1256370526 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
NM_022552.5(DNMT3A):c.-4C>T
NM_022552.5(DNMT3A):c.1003A>G (p.Lys335Glu) rs2149307223
NM_022552.5(DNMT3A):c.1004A>G (p.Lys335Arg) rs2149307214
NM_022552.5(DNMT3A):c.1015-3_1015-1delinsAA rs1553413823
NM_022552.5(DNMT3A):c.1061T>C (p.Phe354Ser) rs2149305358
NM_022552.5(DNMT3A):c.1063C>T (p.His355Tyr) rs1553413753
NM_022552.5(DNMT3A):c.1078_1095dup (p.Tyr365_Arg366insAsnLysGlnProMetTyr)
NM_022552.5(DNMT3A):c.1123-2A>G
NM_022552.5(DNMT3A):c.1165G>A (p.Asp389Asn)
NM_022552.5(DNMT3A):c.12G>C (p.Met4Ile) rs1457508951
NM_022552.5(DNMT3A):c.1300G>C (p.Glu434Gln)
NM_022552.5(DNMT3A):c.130_131dup (p.Ala45fs) rs1553427894
NM_022552.5(DNMT3A):c.1374del (p.Lys459fs) rs886041641
NM_022552.5(DNMT3A):c.137G>A (p.Arg46Gln) rs1573454800
NM_022552.5(DNMT3A):c.1450_1451dup (p.Gln485fs) rs1131691760
NM_022552.5(DNMT3A):c.149G>A (p.Arg50Gln) rs2149405135
NM_022552.5(DNMT3A):c.1582_1584del (p.Tyr528del) rs2149292175
NM_022552.5(DNMT3A):c.1583ACG[3] (p.Asp531del)
NM_022552.5(DNMT3A):c.1608C>G (p.Tyr536Ter) rs370376334
NM_022552.5(DNMT3A):c.1628G>A (p.Gly543Asp) rs767226511
NM_022552.5(DNMT3A):c.1631G>A (p.Arg544His) rs2149291642
NM_022552.5(DNMT3A):c.163C>T (p.Arg55Cys)
NM_022552.5(DNMT3A):c.1643T>C (p.Met548Thr) rs587777509
NM_022552.5(DNMT3A):c.1648G>A (p.Gly550Arg) rs763336898
NM_022552.5(DNMT3A):c.1667+5G>A
NM_022552.5(DNMT3A):c.1681G>A (p.Glu561Lys)
NM_022552.5(DNMT3A):c.1684T>C (p.Cys562Arg) rs1057520788
NM_022552.5(DNMT3A):c.1714G>C (p.Ala572Pro)
NM_022552.5(DNMT3A):c.1759G>T (p.Gly587Trp)
NM_022552.5(DNMT3A):c.176dup (p.Val60fs) rs769876640
NM_022552.5(DNMT3A):c.178-9C>G rs371732107
NM_022552.5(DNMT3A):c.1787G>T (p.Arg596Leu)
NM_022552.5(DNMT3A):c.1867dup (p.Tyr623fs) rs1553412022
NM_022552.5(DNMT3A):c.1897C>G (p.Pro633Ala)
NM_022552.5(DNMT3A):c.1901T>C (p.Ile634Thr)
NM_022552.5(DNMT3A):c.1919T>C (p.Phe640Ser)
NM_022552.5(DNMT3A):c.1935A>G (p.Thr645=)
NM_022552.5(DNMT3A):c.1975C>T (p.Arg659Cys)
NM_022552.5(DNMT3A):c.1978T>C (p.Tyr660His) rs1674056899
NM_022552.5(DNMT3A):c.1981A>G (p.Ile661Val)
NM_022552.5(DNMT3A):c.2017G>A (p.Gly673Ser) rs1674046656
NM_022552.5(DNMT3A):c.2027G>A (p.Arg676Gln) rs769539104
NM_022552.5(DNMT3A):c.2068G>A (p.Val690Ile)
NM_022552.5(DNMT3A):c.206C>T (p.Pro69Leu)
NM_022552.5(DNMT3A):c.2076G>C (p.Gln692His)
NM_022552.5(DNMT3A):c.2096G>A (p.Gly699Asp)
NM_022552.5(DNMT3A):c.2104G>A (p.Asp702Asn) rs770938712
NM_022552.5(DNMT3A):c.2114T>C (p.Ile705Thr)
NM_022552.5(DNMT3A):c.2114T>G (p.Ile705Ser)
NM_022552.5(DNMT3A):c.2162_2168del (p.Lys721fs) rs1573313314
NM_022552.5(DNMT3A):c.2173G>A (p.Glu725Lys)
NM_022552.5(DNMT3A):c.2185C>T (p.Arg729Trp)
NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys) rs147828672
NM_022552.5(DNMT3A):c.2213T>G (p.Leu738Arg) rs745714537
NM_022552.5(DNMT3A):c.2252TCT[1] (p.Phe752del)
NM_022552.5(DNMT3A):c.2327A>C (p.Asn776Thr)
NM_022552.5(DNMT3A):c.2327A>G (p.Asn776Ser)
NM_022552.5(DNMT3A):c.2337G>A (p.Met779Ile) rs2149267652
NM_022552.5(DNMT3A):c.233T>C (p.Met78Thr) rs1558705159
NM_022552.5(DNMT3A):c.2398G>A (p.Gly800Ser) rs757083492
NM_022552.5(DNMT3A):c.2403G>A (p.Met801Ile)
NM_022552.5(DNMT3A):c.2409-253C>T rs17046942
NM_022552.5(DNMT3A):c.2410C>T (p.Pro804Ser)
NM_022552.5(DNMT3A):c.2411C>G (p.Pro804Arg)
NM_022552.5(DNMT3A):c.2469dup (p.Ile824fs) rs1200243711
NM_022552.5(DNMT3A):c.2478+1G>T rs762213449
NM_022552.5(DNMT3A):c.2479-258dup rs1365266786
NM_022552.5(DNMT3A):c.2622T>A (p.Tyr874Ter) rs770134132
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.2657del (p.Gln886fs) rs1573291900
NM_022552.5(DNMT3A):c.265C>T (p.Pro89Ser) rs2031969934
NM_022552.5(DNMT3A):c.2716_2718dup (p.Lys906_Glu907insLys)
NM_022552.5(DNMT3A):c.2729C>T (p.Ala910Val)
NM_022552.5(DNMT3A):c.2736_2737del (p.Ter913ArgextTer?) rs2149252129
NM_022552.5(DNMT3A):c.27dup (p.Gly10fs)
NM_022552.5(DNMT3A):c.289A>C (p.Ser97Arg) rs2149379295
NM_022552.5(DNMT3A):c.322G>A (p.Gly108Arg)
NM_022552.5(DNMT3A):c.334G>A (p.Gly112Ser)
NM_022552.5(DNMT3A):c.340dup (p.Ala114fs) rs1553423604
NM_022552.5(DNMT3A):c.353G>C (p.Gly118Ala)
NM_022552.5(DNMT3A):c.413C>A (p.Thr138Asn)
NM_022552.5(DNMT3A):c.448+104G>A rs111975910
NM_022552.5(DNMT3A):c.448+118G>C rs114783583
NM_022552.5(DNMT3A):c.493-181dup rs1390844654
NM_022552.5(DNMT3A):c.505C>T (p.Arg169Trp)
NM_022552.5(DNMT3A):c.547C>T (p.Arg183Trp)
NM_022552.5(DNMT3A):c.617G>A (p.Trp206Ter) rs1558697970
NM_022552.5(DNMT3A):c.639+6G>A rs559534512
NM_022552.5(DNMT3A):c.64G>A (p.Asp22Asn) rs1351253637
NM_022552.5(DNMT3A):c.656A>G (p.Lys219Arg) rs950156492
NM_022552.5(DNMT3A):c.700_709del (p.Gly234fs) rs1553414444
NM_022552.5(DNMT3A):c.767C>T (p.Pro256Leu)
NM_022552.5(DNMT3A):c.844C>A (p.Pro282Thr)
NM_022552.5(DNMT3A):c.855G>A (p.Glu285=) rs1573342453
NM_022552.5(DNMT3A):c.862C>T (p.Arg288Trp) rs770884084
NM_022552.5(DNMT3A):c.892G>C (p.Gly298Arg)
NM_022552.5(DNMT3A):c.893G>A (p.Gly298Glu) rs1410828051
NM_022552.5(DNMT3A):c.899T>C (p.Leu300Pro) rs1180980391
NM_022552.5(DNMT3A):c.899T>G (p.Leu300Arg) rs1180980391
NM_022552.5(DNMT3A):c.901C>T (p.Arg301Trp) rs1553414070
NM_022552.5(DNMT3A):c.907T>C (p.Phe303Leu)
NM_022552.5(DNMT3A):c.928A>G (p.Ile310Val) rs774128516
NM_022552.5(DNMT3A):c.953G>A (p.Arg318Gln)
NM_022552.5(DNMT3A):c.976C>T (p.Arg326Cys)
NM_022552.5(DNMT3A):c.997G>A (p.Asp333Asn) rs1573340335
NM_153759.3(DNMT3A):c.1937C>T (p.Thr646Met) rs1489843853

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