ClinVar Miner

List of variants in gene KMT2D, LOC126861520 studied for Kabuki syndrome

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Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.4020+13C>G rs184377216 0.00283
NM_003482.4(KMT2D):c.3666C>T (p.Gly1222=) rs138419124 0.00096
NM_003482.4(KMT2D):c.3907-11C>G rs371235044 0.00085
NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653 0.00076
NM_003482.4(KMT2D):c.3737C>T (p.Thr1246Met) rs112921115 0.00076
NM_003482.4(KMT2D):c.3906+20C>T rs375504464 0.00025
NM_003482.4(KMT2D):c.3717C>A (p.Ser1239=) rs371257109 0.00021
NM_003482.4(KMT2D):c.3606C>T (p.Ser1202=) rs369602516 0.00016
NM_003482.4(KMT2D):c.3813A>T (p.Leu1271=) rs201794205 0.00014
NM_003482.4(KMT2D):c.3618C>T (p.Asn1206=) rs200624640 0.00011
NM_003482.4(KMT2D):c.3936C>T (p.Arg1312=) rs774905292 0.00008
NM_003482.4(KMT2D):c.4020+16C>T rs529101042 0.00008
NM_003482.4(KMT2D):c.3889C>T (p.Arg1297Cys) rs746084513 0.00005
NM_003482.4(KMT2D):c.3566G>A (p.Arg1189His) rs1350491800 0.00004
NM_003482.4(KMT2D):c.3819C>T (p.Cys1273=) rs373373098 0.00004
NM_003482.4(KMT2D):c.3840C>T (p.Ser1280=) rs373247355 0.00004
NM_003482.4(KMT2D):c.3907-15C>G rs1275905996 0.00004
NM_003482.4(KMT2D):c.4006A>G (p.Ile1336Val) rs368451486 0.00004
NM_003482.4(KMT2D):c.3597C>T (p.Leu1199=) rs371423189 0.00003
NM_003482.4(KMT2D):c.3872G>A (p.Arg1291Gln) rs369794887 0.00003
NM_003482.4(KMT2D):c.3902A>G (p.Lys1301Arg) rs587778455 0.00003
NM_003482.4(KMT2D):c.3907-9T>G rs367751308 0.00003
NM_003482.4(KMT2D):c.3911G>A (p.Arg1304His) rs760202783 0.00003
NM_003482.4(KMT2D):c.3983G>A (p.Arg1328Gln) rs375635160 0.00003
NM_003482.4(KMT2D):c.3910C>T (p.Arg1304Cys) rs375144626 0.00002
NM_003482.4(KMT2D):c.4000T>G (p.Ser1334Ala) rs750081274 0.00002
NM_003482.4(KMT2D):c.3455C>T (p.Pro1152Leu) rs765863571 0.00001
NM_003482.4(KMT2D):c.3502G>A (p.Val1168Ile) rs1183582467 0.00001
NM_003482.4(KMT2D):c.3524C>T (p.Thr1175Ile) rs756582036 0.00001
NM_003482.4(KMT2D):c.3565C>T (p.Arg1189Cys) rs556879323 0.00001
NM_003482.4(KMT2D):c.3573G>A (p.Pro1191=) rs766243479 0.00001
NM_003482.4(KMT2D):c.3607G>A (p.Asp1203Asn) rs1314762950 0.00001
NM_003482.4(KMT2D):c.3641G>A (p.Gly1214Asp) rs886042736 0.00001
NM_003482.4(KMT2D):c.3647C>A (p.Ala1216Asp) rs930578096 0.00001
NM_003482.4(KMT2D):c.3673C>T (p.Pro1225Ser) rs917551080 0.00001
NM_003482.4(KMT2D):c.3699G>C (p.Glu1233Asp) rs759510649 0.00001
NM_003482.4(KMT2D):c.3790C>T (p.Leu1264=) rs565879146 0.00001
NM_003482.4(KMT2D):c.3807C>G (p.Asp1269Glu) rs1381732975 0.00001
NM_003482.4(KMT2D):c.3871C>T (p.Arg1291Trp) rs1376778182 0.00001
NM_003482.4(KMT2D):c.3874C>T (p.Arg1292Cys) rs762841102 0.00001
NM_003482.4(KMT2D):c.3890G>A (p.Arg1297His) rs781156556 0.00001
NM_003482.4(KMT2D):c.3895C>T (p.Arg1299Cys) rs773797737 0.00001
NM_003482.4(KMT2D):c.3896G>A (p.Arg1299His) rs1266718915 0.00001
NM_003482.4(KMT2D):c.3977G>A (p.Arg1326Gln) rs535481040 0.00001
NM_003482.4(KMT2D):c.3982C>T (p.Arg1328Trp) rs754797404 0.00001
NM_003482.4(KMT2D):c.3995C>T (p.Thr1332Ile) rs1220741239 0.00001
NM_003482.4(KMT2D):c.3434C>T (p.Ala1145Val)
NM_003482.4(KMT2D):c.3453C>A (p.Ser1151=)
NM_003482.4(KMT2D):c.3468C>T (p.Asp1156=)
NM_003482.4(KMT2D):c.3471C>G (p.Pro1157=) rs770863450
NM_003482.4(KMT2D):c.3471C>T (p.Pro1157=) rs770863450
NM_003482.4(KMT2D):c.3481G>A (p.Ala1161Thr)
NM_003482.4(KMT2D):c.3493C>T (p.Pro1165Ser)
NM_003482.4(KMT2D):c.3504C>A (p.Val1168=)
NM_003482.4(KMT2D):c.3505T>A (p.Tyr1169Asn)
NM_003482.4(KMT2D):c.3508C>T (p.Pro1170Ser)
NM_003482.4(KMT2D):c.3509C>T (p.Pro1170Leu)
NM_003482.4(KMT2D):c.3510C>T (p.Pro1170=)
NM_003482.4(KMT2D):c.3511G>A (p.Glu1171Lys)
NM_003482.4(KMT2D):c.3511G>T (p.Glu1171Ter)
NM_003482.4(KMT2D):c.3515G>A (p.Cys1172Tyr)
NM_003482.4(KMT2D):c.3519G>A (p.Lys1173=)
NM_003482.4(KMT2D):c.3521A>G (p.Gln1174Arg)
NM_003482.4(KMT2D):c.3525A>T (p.Thr1175=) rs1348336370
NM_003482.4(KMT2D):c.3527C>T (p.Ala1176Val)
NM_003482.4(KMT2D):c.3528_3530del (p.Gly1177del)
NM_003482.4(KMT2D):c.3541C>T (p.Pro1181Ser)
NM_003482.4(KMT2D):c.3544T>C (p.Cys1182Arg)
NM_003482.4(KMT2D):c.3550G>A (p.Glu1184Lys)
NM_003482.4(KMT2D):c.3570A>G (p.Ala1190=) rs368790549
NM_003482.4(KMT2D):c.3571C>T (p.Pro1191Ser) rs1565813066
NM_003482.4(KMT2D):c.3572C>G (p.Pro1191Arg)
NM_003482.4(KMT2D):c.3583A>G (p.Thr1195Ala)
NM_003482.4(KMT2D):c.3605C>G (p.Ser1202Cys)
NM_003482.4(KMT2D):c.3619G>A (p.Glu1207Lys)
NM_003482.4(KMT2D):c.3645T>C (p.Asp1215=)
NM_003482.4(KMT2D):c.3647C>T (p.Ala1216Val)
NM_003482.4(KMT2D):c.3655A>G (p.Ser1219Gly)
NM_003482.4(KMT2D):c.3688C>T (p.Pro1230Ser) rs1484575962
NM_003482.4(KMT2D):c.3695C>G (p.Pro1232Arg)
NM_003482.4(KMT2D):c.3695C>T (p.Pro1232Leu)
NM_003482.4(KMT2D):c.3696G>A (p.Pro1232=)
NM_003482.4(KMT2D):c.3699G>A (p.Glu1233=) rs759510649
NM_003482.4(KMT2D):c.3699G>T (p.Glu1233Asp) rs759510649
NM_003482.4(KMT2D):c.3700G>C (p.Gly1234Arg) rs773320492
NM_003482.4(KMT2D):c.3700G>T (p.Gly1234Trp)
NM_003482.4(KMT2D):c.3704del (p.Gly1235fs) rs1364500207
NM_003482.4(KMT2D):c.3706G>A (p.Gly1236Ser)
NM_003482.4(KMT2D):c.3708C>G (p.Gly1236=)
NM_003482.4(KMT2D):c.3709T>G (p.Ser1237Ala)
NM_003482.4(KMT2D):c.3711C>T (p.Ser1237=) rs2120642103
NM_003482.4(KMT2D):c.3718A>G (p.Met1240Val)
NM_003482.4(KMT2D):c.3728G>A (p.Gly1243Glu)
NM_003482.4(KMT2D):c.3729G>C (p.Gly1243=) rs2120641776
NM_003482.4(KMT2D):c.3743T>G (p.Val1248Gly)
NM_003482.4(KMT2D):c.3754C>T (p.Arg1252Ter) rs727503987
NM_003482.4(KMT2D):c.3758A>G (p.Asp1253Gly)
NM_003482.4(KMT2D):c.3765C>G (p.Gly1255=) rs370363809
NM_003482.4(KMT2D):c.3765C>T (p.Gly1255=) rs370363809
NM_003482.4(KMT2D):c.3768C>T (p.Ser1256=)
NM_003482.4(KMT2D):c.3782C>T (p.Thr1261Ile)
NM_003482.4(KMT2D):c.3788C>G (p.Ser1263Ter) rs1592151169
NM_003482.4(KMT2D):c.3813A>G (p.Leu1271=) rs201794205
NM_003482.4(KMT2D):c.3814T>C (p.Leu1272=)
NM_003482.4(KMT2D):c.3820G>T (p.Asp1274Tyr)
NM_003482.4(KMT2D):c.3837C>T (p.Ile1279=)
NM_003482.4(KMT2D):c.3841G>A (p.Gly1281Arg)
NM_003482.4(KMT2D):c.3844G>T (p.Gly1282Cys) rs1937812728
NM_003482.4(KMT2D):c.3856G>C (p.Gly1286Arg)
NM_003482.4(KMT2D):c.3868C>T (p.Arg1290Trp) rs769946520
NM_003482.4(KMT2D):c.3869G>A (p.Arg1290Gln)
NM_003482.4(KMT2D):c.3887C>T (p.Ala1296Val)
NM_003482.4(KMT2D):c.3888C>T (p.Ala1296=)
NM_003482.4(KMT2D):c.3893C>A (p.Ser1298Tyr) rs760144885
NM_003482.4(KMT2D):c.3894C>T (p.Ser1298=)
NM_003482.4(KMT2D):c.3898A>G (p.Ile1300Val) rs2120638267
NM_003482.4(KMT2D):c.3903del (p.Lys1301fs) rs1565812092
NM_003482.4(KMT2D):c.3906+11A>G
NM_003482.4(KMT2D):c.3906+15A>G
NM_003482.4(KMT2D):c.3906+7G>A
NM_003482.4(KMT2D):c.3907-13T>G rs1363469650
NM_003482.4(KMT2D):c.3907-19G>T
NM_003482.4(KMT2D):c.3907-1G>A rs2120632521
NM_003482.4(KMT2D):c.3907-6A>T
NM_003482.4(KMT2D):c.3907-7C>G rs765810171
NM_003482.4(KMT2D):c.3925C>T (p.Pro1309Ser)
NM_003482.4(KMT2D):c.3926C>T (p.Pro1309Leu)
NM_003482.4(KMT2D):c.3934C>T (p.Arg1312Cys)
NM_003482.4(KMT2D):c.3935G>A (p.Arg1312His)
NM_003482.4(KMT2D):c.3937C>G (p.Arg1313Gly)
NM_003482.4(KMT2D):c.3938G>A (p.Arg1313Gln)
NM_003482.4(KMT2D):c.3944G>A (p.Arg1315His)
NM_003482.4(KMT2D):c.3944G>C (p.Arg1315Pro)
NM_003482.4(KMT2D):c.3951A>G (p.Gly1317=)
NM_003482.4(KMT2D):c.3964C>T (p.Arg1322Cys)
NM_003482.4(KMT2D):c.3965G>A (p.Arg1322His)
NM_003482.4(KMT2D):c.3976C>T (p.Arg1326Trp) rs886049484
NM_003482.4(KMT2D):c.3994A>G (p.Thr1332Ala)
NM_003482.4(KMT2D):c.4007T>C (p.Ile1336Thr)
NM_003482.4(KMT2D):c.4011G>T (p.Glu1337Asp)
NM_003482.4(KMT2D):c.4018G>A (p.Val1340Ile) rs2120630156
NM_003482.4(KMT2D):c.4020+11G>T rs1355427118
NM_003482.4(KMT2D):c.4020+8G>C

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