ClinVar Miner

List of variants in gene KMT2A studied for Wiedemann-Steiner syndrome

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Gene type:
ClinVar version:
Total variants: 257
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.10209G>A (p.Pro3403=) rs9332843 0.00817
NM_001197104.2(KMT2A):c.7689A>G (p.Ser2563=) rs9332840 0.00784
NM_001197104.2(KMT2A):c.4218+20A>G rs9332798 0.00681
NM_001197104.2(KMT2A):c.9039T>A (p.Gly3013=) rs142875797 0.00175
NM_001197104.2(KMT2A):c.6572G>A (p.Arg2191Gln) rs141727765 0.00109
NM_001197104.2(KMT2A):c.9391G>A (p.Gly3131Ser) rs150804738 0.00097
NM_001197104.2(KMT2A):c.4326T>C (p.His1442=) rs141961986 0.00093
NM_001197104.2(KMT2A):c.8697A>G (p.Val2899=) rs139469741 0.00029
NM_001197104.2(KMT2A):c.6576C>T (p.Ser2192=) rs201483860 0.00021
NM_001197104.2(KMT2A):c.11006A>G (p.Lys3669Arg) rs144844866 0.00013
NM_001197104.2(KMT2A):c.9947C>T (p.Ala3316Val) rs201447376 0.00011
NM_001197104.2(KMT2A):c.6158+9C>T rs200249108 0.00009
NM_001197104.2(KMT2A):c.9342A>C (p.Thr3114=) rs782427944 0.00006
NM_001197104.2(KMT2A):c.6632G>A (p.Arg2211Gln) rs140529566 0.00004
NM_001197104.2(KMT2A):c.2327T>C (p.Val776Ala) rs782746928 0.00003
NM_001197104.2(KMT2A):c.2600G>A (p.Ser867Asn) rs782215946 0.00003
NM_001197104.2(KMT2A):c.2405C>G (p.Ser802Cys) rs782623689 0.00002
NM_001197104.2(KMT2A):c.3635-7C>T rs782489094 0.00002
NM_001197104.2(KMT2A):c.6650G>A (p.Arg2217Lys) rs782483583 0.00002
NM_001197104.2(KMT2A):c.9379C>T (p.Pro3127Ser) rs1461830365 0.00002
NM_001197104.2(KMT2A):c.135G>A (p.Pro45=) rs9332746 0.00001
NM_001197104.2(KMT2A):c.1642A>G (p.Thr548Ala) rs1057519412 0.00001
NM_001197104.2(KMT2A):c.2929G>A (p.Gly977Ser) rs782439084 0.00001
NM_001197104.2(KMT2A):c.3413A>G (p.Asn1138Ser) rs1031671823 0.00001
NM_001197104.2(KMT2A):c.4933A>G (p.Ile1645Val) rs377485215 0.00001
NM_001197104.2(KMT2A):c.5176G>A (p.Val1726Met) rs1185271064 0.00001
NM_001197104.2(KMT2A):c.6374C>T (p.Pro2125Leu) rs782226750 0.00001
NM_001197104.2(KMT2A):c.6563C>G (p.Ser2188Cys) rs1555045999 0.00001
NM_001197104.2(KMT2A):c.694A>G (p.Lys232Glu) rs1555035596 0.00001
NM_001197104.2(KMT2A):c.7451A>G (p.Asn2484Ser) rs782475453 0.00001
NM_001197104.2(KMT2A):c.7556G>A (p.Arg2519Gln) rs183240996 0.00001
NM_001197104.2(KMT2A):c.9635C>T (p.Thr3212Ile) rs782079693 0.00001
NM_001197104.1:c.(4332+1_4333-1)_(6505+1_6506-1)del
NM_001197104.2(KMT2A):c.10051del (p.Thr3351fs)
NM_001197104.2(KMT2A):c.10064dup (p.Thr3356fs) rs2134409720
NM_001197104.2(KMT2A):c.10292_10296dup (p.Pro3433fs) rs2134411495
NM_001197104.2(KMT2A):c.10334dup (p.Ser3446fs) rs863224888
NM_001197104.2(KMT2A):c.10376del (p.Asn3459fs) rs1591286581
NM_001197104.2(KMT2A):c.1038del (p.Val347fs) rs1555035779
NM_001197104.2(KMT2A):c.10549G>A (p.Gly3517Ser) rs2134413643
NM_001197104.2(KMT2A):c.10556C>T (p.Pro3519Leu) rs1053444835
NM_001197104.2(KMT2A):c.1064T>C (p.Ile355Thr)
NM_001197104.2(KMT2A):c.10745C>A (p.Ser3582Ter)
NM_001197104.2(KMT2A):c.10802A>G (p.Gln3601Arg) rs1591288712
NM_001197104.2(KMT2A):c.1082T>C (p.Ile361Thr)
NM_001197104.2(KMT2A):c.10840G>C (p.Val3614Leu)
NM_001197104.2(KMT2A):c.10853del (p.Pro3618fs)
NM_001197104.2(KMT2A):c.10934dup (p.Ser3646fs) rs2134430935
NM_001197104.2(KMT2A):c.11031del (p.Ser3678fs)
NM_001197104.2(KMT2A):c.11071+1G>A rs1555049702
NM_001197104.2(KMT2A):c.125C>T (p.Pro42Leu)
NM_001197104.2(KMT2A):c.1274del (p.Pro425fs) rs2134260983
NM_001197104.2(KMT2A):c.1274dup (p.Arg426fs)
NM_001197104.2(KMT2A):c.129del (p.Pro45fs) rs2134152803
NM_001197104.2(KMT2A):c.130C>A (p.Pro44Thr) rs1437526128
NM_001197104.2(KMT2A):c.133C>T (p.Pro45Ser) rs1949186581
NM_001197104.2(KMT2A):c.1395_1396insG (p.Ser466fs) rs1949960915
NM_001197104.2(KMT2A):c.1433G>A (p.Arg478Gln) rs782711809
NM_001197104.2(KMT2A):c.1512C>A (p.Ser504Arg) rs1555036041
NM_001197104.2(KMT2A):c.152_186del (p.Pro51fs) rs2134153013
NM_001197104.2(KMT2A):c.1610G>C (p.Ser537Thr)
NM_001197104.2(KMT2A):c.1660C>T (p.Gln554Ter) rs1949967549
NM_001197104.2(KMT2A):c.167C>A (p.Ser56Tyr) rs1949187908
NM_001197104.2(KMT2A):c.173dup (p.Ala59fs) rs1555138552
NM_001197104.2(KMT2A):c.1837C>T (p.Arg613Ter) rs2134264638
NM_001197104.2(KMT2A):c.1844del (p.Pro615fs) rs1591374984
NM_001197104.2(KMT2A):c.188CGG[4] (p.Ala67del) rs781936420
NM_001197104.2(KMT2A):c.188CGG[7] (p.Ala66_Ala67dup) rs781936420
NM_001197104.2(KMT2A):c.1A>T (p.Met1Leu)
NM_001197104.2(KMT2A):c.2070G>A (p.Met690Ile)
NM_001197104.2(KMT2A):c.209G>A (p.Ser70Asn) rs1177309170
NM_001197104.2(KMT2A):c.2143G>A (p.Val715Ile) rs1949975510
NM_001197104.2(KMT2A):c.2198A>G (p.Asn733Ser) rs1555036397
NM_001197104.2(KMT2A):c.2214_2218del (p.Arg738fs) rs2134266780
NM_001197104.2(KMT2A):c.2214_2218dup (p.Val740fs) rs2134266780
NM_001197104.2(KMT2A):c.226G>T (p.Gly76Trp) rs1949190966
NM_001197104.2(KMT2A):c.2318del (p.Pro773fs) rs782297546
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs) rs782297546
NM_001197104.2(KMT2A):c.2326G>C (p.Val776Leu)
NM_001197104.2(KMT2A):c.2348_2349del (p.Ser783fs) rs1064793451
NM_001197104.2(KMT2A):c.2354_2402dup (p.His801delinsGlnSerSerCysHisTer) rs1949980614
NM_001197104.2(KMT2A):c.2429_2430insG (p.Glu811fs)
NM_001197104.2(KMT2A):c.2483C>G (p.Ser828Ter) rs2134269273
NM_001197104.2(KMT2A):c.2522del (p.Pro841fs) rs1949984032
NM_001197104.2(KMT2A):c.2541_2542del (p.Gly848fs)
NM_001197104.2(KMT2A):c.2608A>T (p.Lys870Ter)
NM_001197104.2(KMT2A):c.2618G>A (p.Ser873Asn) rs1057519618
NM_001197104.2(KMT2A):c.2673_2674del (p.Arg893fs) rs587783676
NM_001197104.2(KMT2A):c.2683A>T (p.Lys895Ter)
NM_001197104.2(KMT2A):c.2690C>G (p.Ser897Ter) rs2134271140
NM_001197104.2(KMT2A):c.2797C>T (p.Arg933Trp) rs782407414
NM_001197104.2(KMT2A):c.2896A>T (p.Arg966Ter) rs1555036801
NM_001197104.2(KMT2A):c.293del (p.Ser97_Ser98insTer)
NM_001197104.2(KMT2A):c.2958_2959insGTTG (p.Lys987fs) rs2134272679
NM_001197104.2(KMT2A):c.2982_2988del (p.Ser995fs) rs2134272841
NM_001197104.2(KMT2A):c.2986T>C (p.Ser996Pro) rs1949992868
NM_001197104.2(KMT2A):c.3019G>T (p.Gly1007Cys) rs940325244
NM_001197104.2(KMT2A):c.3034C>T (p.Gln1012Ter) rs1565280934
NM_001197104.2(KMT2A):c.3070dup (p.Ala1024fs)
NM_001197104.2(KMT2A):c.3094G>T (p.Ala1032Ser) rs1949994505
NM_001197104.2(KMT2A):c.3157-7_3161del rs1591379711
NM_001197104.2(KMT2A):c.3190C>T (p.Arg1064Ter) rs1555037629
NM_001197104.2(KMT2A):c.31G>A (p.Ala11Thr)
NM_001197104.2(KMT2A):c.3241C>T (p.Arg1081Ter) rs2134282528
NM_001197104.2(KMT2A):c.3248G>A (p.Arg1083Gln)
NM_001197104.2(KMT2A):c.3283G>A (p.Ala1095Thr)
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter) rs886041856
NM_001197104.2(KMT2A):c.3334+1G>A rs1135401764
NM_001197104.2(KMT2A):c.3337A>T (p.Lys1113Ter)
NM_001197104.2(KMT2A):c.3341C>A (p.Ser1114Ter) rs1555038029
NM_001197104.2(KMT2A):c.3451C>T (p.Arg1151Ter) rs868985556
NM_001197104.2(KMT2A):c.3455C>A (p.Ser1152Ter) rs1591381084
NM_001197104.2(KMT2A):c.3460C>T (p.Arg1154Trp) rs1555038090
NM_001197104.2(KMT2A):c.3461G>A (p.Arg1154Gln) rs1131691799
NM_001197104.2(KMT2A):c.3462del (p.Cys1155fs) rs2134286994
NM_001197104.2(KMT2A):c.3463T>C (p.Cys1155Arg)
NM_001197104.2(KMT2A):c.3464G>A (p.Cys1155Tyr) rs1057518074
NM_001197104.2(KMT2A):c.3473G>A (p.Cys1158Tyr) rs1131691503
NM_001197104.2(KMT2A):c.3521T>G (p.Leu1174Ter) rs1555038111
NM_001197104.2(KMT2A):c.3537T>G (p.Phe1179Leu)
NM_001197104.2(KMT2A):c.3542G>A (p.Gly1181Asp)
NM_001197104.2(KMT2A):c.3547A>G (p.Asn1183Asp) rs2134287568
NM_001197104.2(KMT2A):c.3565T>C (p.Cys1189Arg) rs886041875
NM_001197104.2(KMT2A):c.3566G>A (p.Cys1189Tyr) rs1555038125
NM_001197104.2(KMT2A):c.3569+2T>G
NM_001197104.2(KMT2A):c.3581G>A (p.Cys1194Tyr) rs1950106455
NM_001197104.2(KMT2A):c.3592C>T (p.Gln1198Ter) rs1591383060
NM_001197104.2(KMT2A):c.3615C>A (p.Tyr1205Ter)
NM_001197104.2(KMT2A):c.3634+1G>A rs2134293919
NM_001197104.2(KMT2A):c.3651dup (p.Lys1218fs) rs863224887
NM_001197104.2(KMT2A):c.3680_3683del (p.Asp1227fs) rs1591384640
NM_001197104.2(KMT2A):c.3740_3741del (p.Ser1247fs) rs1565286640
NM_001197104.2(KMT2A):c.3790C>T (p.Arg1264Ter) rs1555039343
NM_001197104.2(KMT2A):c.3794del (p.Lys1265fs)
NM_001197104.2(KMT2A):c.3853C>T (p.Gln1285Ter) rs2134300616
NM_001197104.2(KMT2A):c.3935_3936del (p.Thr1312fs) rs1591385068
NM_001197104.2(KMT2A):c.3968C>T (p.Thr1323Ile) rs1950142519
NM_001197104.2(KMT2A):c.4012+2T>A rs1591385183
NM_001197104.2(KMT2A):c.4013-2A>G
NM_001197104.2(KMT2A):c.4032del (p.Val1347fs) rs1591385663
NM_001197104.2(KMT2A):c.4086+1G>A rs863224889
NM_001197104.2(KMT2A):c.4171C>T (p.Gln1391Ter) rs2134311608
NM_001197104.2(KMT2A):c.4246G>T (p.Glu1416Ter) rs1555040446
NM_001197104.2(KMT2A):c.4301G>T (p.Cys1434Phe)
NM_001197104.2(KMT2A):c.4333-2A>G rs2134327570
NM_001197104.2(KMT2A):c.4342T>C (p.Cys1448Arg) rs863224895
NM_001197104.2(KMT2A):c.4343G>A (p.Cys1448Tyr) rs1085307857
NM_001197104.2(KMT2A):c.4361C>T (p.Pro1454Leu)
NM_001197104.2(KMT2A):c.4367A>G (p.His1456Arg) rs1131691433
NM_001197104.2(KMT2A):c.4420T>A (p.Trp1474Arg) rs1950273260
NM_001197104.2(KMT2A):c.4422G>A (p.Trp1474Ter)
NM_001197104.2(KMT2A):c.4426T>A (p.Cys1476Ser) rs587783677
NM_001197104.2(KMT2A):c.4429CGT[1] (p.Arg1478del) rs1591393351
NM_001197104.2(KMT2A):c.4433G>A (p.Arg1478His) rs1555041629
NM_001197104.2(KMT2A):c.458C>G (p.Ser153Ter) rs587783678
NM_001197104.2(KMT2A):c.4599dup (p.Lys1534Ter) rs398122881
NM_001197104.2(KMT2A):c.4643_4644insACTCCAGGCAAAGG (p.Trp1549fs)
NM_001197104.2(KMT2A):c.4643_4646dup (p.Trp1549Ter)
NM_001197104.2(KMT2A):c.464AAG[1] (p.Glu156del)
NM_001197104.2(KMT2A):c.4696+1G>A rs1057519407
NM_001197104.2(KMT2A):c.4696G>A (p.Gly1566Arg) rs2134335014
NM_001197104.2(KMT2A):c.4760A>G (p.Gln1587Arg)
NM_001197104.2(KMT2A):c.4777del (p.Arg1593fs)
NM_001197104.2(KMT2A):c.478C>T (p.Arg160Ter) rs1555034779
NM_001197104.2(KMT2A):c.4906C>T (p.Arg1636Ter) rs1591266263
NM_001197104.2(KMT2A):c.4915C>A (p.Leu1639Ile)
NM_001197104.2(KMT2A):c.491G>A (p.Arg164Lys) rs1949894030
NM_001197104.2(KMT2A):c.4924G>A (p.Glu1642Lys) rs369646146
NM_001197104.2(KMT2A):c.4969T>G (p.Ser1657Ala) rs1950329805
NM_001197104.2(KMT2A):c.5005-3T>C
NM_001197104.2(KMT2A):c.502+1G>A rs1591371152
NM_001197104.2(KMT2A):c.5168dup (p.Tyr1723Ter)
NM_001197104.2(KMT2A):c.517C>T (p.Arg173Ter) rs1555035511
NM_001197104.2(KMT2A):c.5251A>T (p.Lys1751Ter) rs886041896
NM_001197104.2(KMT2A):c.526C>T (p.Arg176Cys)
NM_001197104.2(KMT2A):c.5363+1G>A rs2134351311
NM_001197104.2(KMT2A):c.5431C>T (p.Arg1811Ter) rs1555043796
NM_001197104.2(KMT2A):c.5455C>T (p.Gln1819Ter) rs2134355176
NM_001197104.2(KMT2A):c.5494C>A (p.Pro1832Thr) rs797045051
NM_001197104.2(KMT2A):c.5572C>T (p.Arg1858Ter) rs2134357027
NM_001197104.2(KMT2A):c.5582G>T (p.Ser1861Ile) rs1950407707
NM_001197104.2(KMT2A):c.5621dup (p.Gln1875fs) rs1555043939
NM_001197104.2(KMT2A):c.5656_5657del (p.Ser1886fs)
NM_001197104.2(KMT2A):c.572C>A (p.Ser191Ter) rs1591373553
NM_001197104.2(KMT2A):c.5822del (p.Lys1941fs) rs2134366416
NM_001197104.2(KMT2A):c.5828G>A (p.Gly1943Glu) rs1950444447
NM_001197104.2(KMT2A):c.5874_5878del (p.Phe1959fs)
NM_001197104.2(KMT2A):c.5876T>G (p.Phe1959Cys) rs1950445141
NM_001197104.2(KMT2A):c.5901del (p.Cys1967fs) rs2134367400
NM_001197104.2(KMT2A):c.5958C>T (p.Gly1986=) rs1555044758
NM_001197104.2(KMT2A):c.5959G>A (p.Glu1987Lys)
NM_001197104.2(KMT2A):c.6002_6005del (p.Phe2001fs) rs1057519408
NM_001197104.2(KMT2A):c.602_603insT (p.Lys201fs) rs1555035550
NM_001197104.2(KMT2A):c.6079+2T>C
NM_001197104.2(KMT2A):c.6080G>A (p.Gly2027Glu) rs1057519403
NM_001197104.2(KMT2A):c.6141_6142dup (p.Phe2048fs)
NM_001197104.2(KMT2A):c.6142T>G (p.Phe2048Val) rs1950472916
NM_001197104.2(KMT2A):c.6158+1del
NM_001197104.2(KMT2A):c.6158+6T>C rs1555045177
NM_001197104.2(KMT2A):c.6320-1G>A
NM_001197104.2(KMT2A):c.6357del (p.Ile2119_Ile2120insTer) rs2134381253
NM_001197104.2(KMT2A):c.6445C>T (p.Arg2149Ter) rs781843315
NM_001197104.2(KMT2A):c.6487C>T (p.Arg2163Ter) rs1555045816
NM_001197104.2(KMT2A):c.6518C>T (p.Pro2173Leu) rs2134384180
NM_001197104.2(KMT2A):c.658_662del (p.Lys220fs) rs2134257719
NM_001197104.2(KMT2A):c.6616C>T (p.Gln2206Ter)
NM_001197104.2(KMT2A):c.6709A>G (p.Thr2237Ala) rs1950517622
NM_001197104.2(KMT2A):c.6773G>A (p.Ser2258Asn)
NM_001197104.2(KMT2A):c.6811del (p.Arg2271fs) rs797045656
NM_001197104.2(KMT2A):c.6913del (p.Ser2305fs) rs398122880
NM_001197104.2(KMT2A):c.6989del (p.Gly2330fs) rs2134387390
NM_001197104.2(KMT2A):c.69del (p.Arg24fs) rs2134152310
NM_001197104.2(KMT2A):c.7144C>T (p.Arg2382Ter) rs387907275
NM_001197104.2(KMT2A):c.7155del (p.His2385fs) rs2134389341
NM_001197104.2(KMT2A):c.7248del (p.Ile2417fs)
NM_001197104.2(KMT2A):c.7302dup (p.Ser2435fs)
NM_001197104.2(KMT2A):c.731T>G (p.Leu244Ter) rs2134258206
NM_001197104.2(KMT2A):c.7354C>G (p.Pro2452Ala) rs2134391388
NM_001197104.2(KMT2A):c.7438C>T (p.Arg2480Ter) rs1555046568
NM_001197104.2(KMT2A):c.7444T>C (p.Cys2482Arg)
NM_001197104.2(KMT2A):c.7477A>G (p.Lys2493Glu) rs1950532267
NM_001197104.2(KMT2A):c.7553_7565del (p.Pro2518fs)
NM_001197104.2(KMT2A):c.7567_7570del (p.Val2523fs) rs797044565
NM_001197104.2(KMT2A):c.7597del (p.Glu2533fs) rs2134393031
NM_001197104.2(KMT2A):c.7643del (p.Ala2548fs) rs1591282224
NM_001197104.2(KMT2A):c.7753del (p.Asp2585fs)
NM_001197104.2(KMT2A):c.7831G>T (p.Glu2611Ter) rs587783679
NM_001197104.2(KMT2A):c.7899del (p.Thr2635fs) rs1591282615
NM_001197104.2(KMT2A):c.7914T>A (p.Tyr2638Ter) rs1385902057
NM_001197104.2(KMT2A):c.7941_7942del (p.Ile2648fs)
NM_001197104.2(KMT2A):c.7970_7973dup (p.Arg2659fs)
NM_001197104.2(KMT2A):c.7975C>T (p.Arg2659Ter) rs1950540436
NM_001197104.2(KMT2A):c.7990del (p.Ala2664fs) rs2134395799
NM_001197104.2(KMT2A):c.8095C>T (p.Arg2699Ter) rs587783680
NM_001197104.2(KMT2A):c.8149del (p.Ile2717fs) rs1131692268
NM_001197104.2(KMT2A):c.8183_8186del (p.Glu2728fs) rs1591283017
NM_001197104.2(KMT2A):c.8204_8225del (p.Ala2735fs) rs2134397119
NM_001197104.2(KMT2A):c.8267del (p.Asn2755_Leu2756insTer) rs398122879
NM_001197104.2(KMT2A):c.8270dup (p.Ile2758fs)
NM_001197104.2(KMT2A):c.8414_8418del (p.Ser2805fs) rs1591283372
NM_001197104.2(KMT2A):c.8543T>C (p.Leu2848Pro) rs1555047266
NM_001197104.2(KMT2A):c.8767_8768del (p.Gln2923fs) rs1950551811
NM_001197104.2(KMT2A):c.8806_8809del (p.Ser2935_Val2936insTer) rs398122878
NM_001197104.2(KMT2A):c.8823T>A (p.Ser2941Arg)
NM_001197104.2(KMT2A):c.883_886del (p.Lys295fs) rs1949951871
NM_001197104.2(KMT2A):c.8992A>T (p.Ile2998Phe)
NM_001197104.2(KMT2A):c.9035del (p.Cys3012fs) rs2134402509
NM_001197104.2(KMT2A):c.905G>A (p.Arg302Gln) rs2134259085
NM_001197104.2(KMT2A):c.9195del (p.Ala3066fs)
NM_001197104.2(KMT2A):c.9275_9276del (p.Tyr3092fs) rs2134404192
NM_001197104.2(KMT2A):c.9326_9330del (p.Ser3109fs)
NM_001197104.2(KMT2A):c.934_935insC (p.Ile312fs) rs1591373923
NM_001197104.2(KMT2A):c.9447_9450dup (p.Ser3151fs) rs2134405469
NM_001197104.2(KMT2A):c.9519_9520del (p.Gln3173_Ser3174insTer) rs2134406005
NM_001197104.2(KMT2A):c.9684del (p.Leu3229fs)
NM_001197104.2(KMT2A):c.9839C>A (p.Ser3280Ter) rs1950569353
NM_001197104.2(KMT2A):c.9911T>G (p.Leu3304Arg)

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