ClinVar Miner

List of variants studied for Kabuki syndrome by Center for Human Genetics, Inc, Center for Human Genetics, Inc

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689 0.00433
NM_003482.4(KMT2D):c.7705G>A (p.Gly2569Ser) rs201507971 0.00284
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869 0.00260
NM_003482.4(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661 0.00223
NM_003482.4(KMT2D):c.11141G>A (p.Arg3714Lys) rs186696516 0.00216
NM_003482.4(KMT2D):c.6752C>T (p.Ser2251Leu) rs189199944 0.00200
NM_003482.4(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524 0.00127
NM_003482.4(KMT2D):c.6733C>G (p.Leu2245Val) rs201931833 0.00124
NM_003482.4(KMT2D):c.4401C>T (p.Gly1467=) rs192659833 0.00108
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_003482.4(KMT2D):c.7046C>T (p.Pro2349Leu) rs201581582 0.00061
NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His) rs201481646 0.00053
NM_003482.4(KMT2D):c.7301C>A (p.Ala2434Asp) rs201114196 0.00051
NM_003482.4(KMT2D):c.6437C>T (p.Pro2146Leu) rs563981206 0.00026
NM_003482.4(KMT2D):c.2506C>A (p.Gln836Lys) rs200192746 0.00019
NM_003482.4(KMT2D):c.8579G>A (p.Arg2860His) rs377747403 0.00016
NM_003482.4(KMT2D):c.9343C>T (p.Leu3115Phe) rs587778471 0.00016
NM_003482.4(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483 0.00010
NM_003482.4(KMT2D):c.6643T>A (p.Ser2215Thr) rs200080744 0.00009
NM_003482.4(KMT2D):c.7366C>T (p.Arg2456Cys) rs754060706 0.00009
NM_003482.4(KMT2D):c.5645-3C>T rs544332856 0.00007
NM_003482.4(KMT2D):c.13531-10T>C rs769029919 0.00006
NM_003482.4(KMT2D):c.1939C>A (p.Pro647Thr) rs200106242 0.00006
NM_003482.4(KMT2D):c.7136C>T (p.Ala2379Val) rs200842315 0.00005
NM_003482.4(KMT2D):c.10522C>T (p.Arg3508Trp) rs777638253 0.00004
NM_003482.4(KMT2D):c.15499A>G (p.Ser5167Gly) rs752976776 0.00004
NM_003482.4(KMT2D):c.5752C>T (p.Arg1918Cys) rs747722455 0.00004
NM_003482.4(KMT2D):c.8137G>A (p.Ala2713Thr) rs748969707 0.00003
NM_001291415.2(KDM6A):c.2899T>C (p.Leu967=) rs374328447 0.00002
NM_003482.4(KMT2D):c.6608C>T (p.Thr2203Met) rs770692765 0.00002
NM_003482.4(KMT2D):c.8405C>T (p.Ala2802Val) rs1239905273 0.00002
NM_003482.4(KMT2D):c.10467G>T (p.Gln3489His) rs535351117 0.00001
NM_003482.4(KMT2D):c.11599C>A (p.Gln3867Lys) rs1200655258 0.00001
NM_003482.4(KMT2D):c.12566G>C (p.Gly4189Ala) rs532360713 0.00001
NM_003482.4(KMT2D):c.12634C>T (p.Arg4212Trp) rs760279999 0.00001
NM_003482.4(KMT2D):c.2209C>T (p.Arg737Trp) rs539274614 0.00001
NM_003482.4(KMT2D):c.2771C>T (p.Ser924Phe) rs768627183 0.00001
NM_003482.4(KMT2D):c.3982C>T (p.Arg1328Trp) rs754797404 0.00001
NM_003482.4(KMT2D):c.7589C>T (p.Thr2530Ile) rs773982820 0.00001
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817 0.00001
NM_003482.4(KMT2D):c.941C>G (p.Ser314Cys) rs1043654062 0.00001
NM_001291415.2(KDM6A):c.62del (p.Glu21fs) rs1555957146
NM_001291415.2(KDM6A):c.660A>T (p.Lys220Asn) rs587778423
NM_003482.4(KMT2D):c.10090C>T (p.Gln3364Ter) rs1210590639
NM_003482.4(KMT2D):c.10378C>T (p.Gln3460Ter) rs1555189450
NM_003482.4(KMT2D):c.10440+2T>G rs1555189421
NM_003482.4(KMT2D):c.10653dup (p.Ala3552fs) rs763440821
NM_003482.4(KMT2D):c.10999C>T (p.Gln3667Ter) rs1555189038
NM_003482.4(KMT2D):c.11044C>G (p.Gln3682Glu) rs1223171002
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) rs398123707
NM_003482.4(KMT2D):c.11290C>T (p.Gln3764Ter) rs587783682
NM_003482.4(KMT2D):c.11422del (p.Ala3808fs) rs1555188704
NM_003482.4(KMT2D):c.1143del (p.Thr382fs) rs1064796125
NM_003482.4(KMT2D):c.11456del (p.Gly3819fs) rs1555188687
NM_003482.4(KMT2D):c.11472_11473del (p.His3824fs) rs1555188670
NM_003482.4(KMT2D):c.11568GCA[6] (p.Gln3863dup) rs748986705
NM_003482.4(KMT2D):c.11635_11636del (p.Leu3880fs) rs1555188561
NM_003482.4(KMT2D):c.11692C>T (p.Gln3898Ter) rs398123708
NM_003482.4(KMT2D):c.11710C>T (p.Gln3904Ter) rs1555188537
NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup) rs576788910
NM_003482.4(KMT2D):c.11739del (p.Gln3913fs) rs1555188520
NM_003482.4(KMT2D):c.11743C>T (p.Gln3915Ter) rs1555188518
NM_003482.4(KMT2D):c.11848C>T (p.Gln3950Ter) rs1555188430
NM_003482.4(KMT2D):c.12469C>T (p.Gln4157Ter) rs1555188080
NM_003482.4(KMT2D):c.12546dup (p.Gln4183fs) rs1555188026
NM_003482.4(KMT2D):c.12592C>T (p.Arg4198Ter) rs587783685
NM_003482.4(KMT2D):c.12697C>T (p.Gln4233Ter) rs1555187930
NM_003482.4(KMT2D):c.12808C>T (p.Gln4270Ter) rs1555187869
NM_003482.4(KMT2D):c.12896del (p.Gly4299fs) rs587783686
NM_003482.4(KMT2D):c.1301del (p.Leu434fs) rs1555197738
NM_003482.4(KMT2D):c.13026_13027dup (p.Thr4343fs) rs1555187741
NM_003482.4(KMT2D):c.13213C>T (p.Gln4405Ter) rs1555187575
NM_003482.4(KMT2D):c.13346del (p.Leu4449fs) rs1555187485
NM_003482.4(KMT2D):c.13367C>G (p.Ser4456Ter) rs1555187461
NM_003482.4(KMT2D):c.13606C>T (p.Arg4536Ter) rs587783692
NM_003482.4(KMT2D):c.13671+10dup rs147210845
NM_003482.4(KMT2D):c.13996_13997del (p.Arg4666fs) rs587783693
NM_003482.4(KMT2D):c.14000-3C>G rs1355372507
NM_003482.4(KMT2D):c.14055_14056del (p.His4685fs) rs1555186627
NM_003482.4(KMT2D):c.14189G>A (p.Trp4730Ter) rs1555186527
NM_003482.4(KMT2D):c.14469del (p.Ala4824fs) rs1555186257
NM_003482.4(KMT2D):c.14515+1G>A rs1555186232
NM_003482.4(KMT2D):c.14669_14672del (p.Thr4890fs) rs1555186087
NM_003482.4(KMT2D):c.14713C>T (p.Gln4905Ter) rs1555186053
NM_003482.4(KMT2D):c.14722del (p.Ala4908fs) rs1555186044
NM_003482.4(KMT2D):c.14833delinsAA (p.Pro4945fs) rs1555185978
NM_003482.4(KMT2D):c.14878C>T (p.Arg4960Ter) rs1555185969
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys) rs1555185875
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_003482.4(KMT2D):c.15286C>T (p.Gln5096Ter) rs1555185817
NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003482.4(KMT2D):c.15565G>A (p.Gly5189Arg) rs1555185701
NM_003482.4(KMT2D):c.15583C>T (p.Gln5195Ter) rs1555185699
NM_003482.4(KMT2D):c.15589G>A (p.Ala5197Thr) rs1555185696
NM_003482.4(KMT2D):c.15640C>T (p.Arg5214Cys) rs398123728
NM_003482.4(KMT2D):c.15731_15732del (p.Lys5244fs) rs1555185610
NM_003482.4(KMT2D):c.16125del (p.Tyr5376fs) rs1555184893
NM_003482.4(KMT2D):c.16211C>G (p.Ser5404Cys) rs1555184837
NM_003482.4(KMT2D):c.16295G>A (p.Arg5432Gln) rs398123734
NM_003482.4(KMT2D):c.16338+1G>T rs1555184782
NM_003482.4(KMT2D):c.16342C>T (p.Arg5448Ter) rs1422752351
NM_003482.4(KMT2D):c.16360C>T (p.Arg5454Ter) rs267607239
NM_003482.4(KMT2D):c.16437del (p.Asn5480fs) rs1555184635
NM_003482.4(KMT2D):c.16438_16441del (p.Asn5480fs) rs587783703
NM_003482.4(KMT2D):c.16470del (p.Glu5491fs) rs1555184624
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_003482.4(KMT2D):c.176+15G>A rs1415205254
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.4(KMT2D):c.1940del (p.Pro647fs) rs770315135
NM_003482.4(KMT2D):c.2110_2113delinsTC (p.Asp704fs) rs1555197101
NM_003482.4(KMT2D):c.2263dup (p.Arg755fs) rs1555196984
NM_003482.4(KMT2D):c.2546C>A (p.Ser849Ter) rs370492566
NM_003482.4(KMT2D):c.2578_2579del (p.Leu860fs) rs1555196742
NM_003482.4(KMT2D):c.2819C>G (p.Ser940Ter) rs1555196590
NM_003482.4(KMT2D):c.2992C>T (p.Pro998Ser) rs143711798
NM_003482.4(KMT2D):c.3019_3020del (p.Ser1007fs) rs1555196459
NM_003482.4(KMT2D):c.305G>A (p.Ser102Asn) rs368471915
NM_003482.4(KMT2D):c.3649dup (p.Ser1217fs) rs1555196084
NM_003482.4(KMT2D):c.3789_3790del (p.Leu1264fs) rs1555196016
NM_003482.4(KMT2D):c.4130A>C (p.Gln1377Pro) rs1555195573
NM_003482.4(KMT2D):c.4131G>A (p.Gln1377=) rs764942
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs) rs398123744
NM_003482.4(KMT2D):c.4160G>T (p.Gly1387Val) rs1555195461
NM_003482.4(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003482.4(KMT2D):c.423G>A (p.Trp141Ter) rs1555198640
NM_003482.4(KMT2D):c.432A>G (p.Ala144=) rs1555198633
NM_003482.4(KMT2D):c.4379del (p.Pro1460fs) rs1240601136
NM_003482.4(KMT2D):c.4395dup (p.Lys1466fs) rs1555195118
NM_003482.4(KMT2D):c.4569C>G (p.Cys1523Trp) rs1555194993
NM_003482.4(KMT2D):c.4710del (p.Glu1571fs) rs1555194822
NM_003482.4(KMT2D):c.4724T>C (p.Met1575Thr) rs1555194803
NM_003482.4(KMT2D):c.474_475del (p.Cys158fs) rs1555198590
NM_003482.4(KMT2D):c.4762G>T (p.Glu1588Ter) rs1290729871
NM_003482.4(KMT2D):c.4766G>A (p.Gly1589Asp) rs1555194524
NM_003482.4(KMT2D):c.50-1G>T rs1555198921
NM_003482.4(KMT2D):c.5058dup (p.Arg1687fs) rs1555194303
NM_003482.4(KMT2D):c.5135_5136del (p.Lys1712fs) rs1555194236
NM_003482.4(KMT2D):c.5166del (p.Ser1722fs) rs367537992
NM_003482.4(KMT2D):c.5189-13G>A rs375365635
NM_003482.4(KMT2D):c.5467G>T (p.Gly1823Ter) rs1555193912
NM_003482.4(KMT2D):c.5597del (p.Pro1866fs) rs1555193755
NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs) rs1555193738
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter) rs1452715535
NM_003482.4(KMT2D):c.6594dup (p.Tyr2199fs) rs1555192751
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.4(KMT2D):c.6844del (p.Arg2282fs) rs1555192531
NM_003482.4(KMT2D):c.6955dup (p.Leu2319fs) rs1555192457
NM_003482.4(KMT2D):c.6966dup (p.Thr2323fs) rs1555192451
NM_003482.4(KMT2D):c.6992del (p.Leu2331fs) rs1555192437
NM_003482.4(KMT2D):c.702del (p.Pro235fs) rs1555198318
NM_003482.4(KMT2D):c.7282del (p.Arg2428fs) rs1555192218
NM_003482.4(KMT2D):c.7291_7294del (p.Ser2431fs) rs1555192210
NM_003482.4(KMT2D):c.7426G>T (p.Glu2476Ter) rs1555192113
NM_003482.4(KMT2D):c.7451T>C (p.Leu2484Pro) rs1555192083
NM_003482.4(KMT2D):c.7479dup (p.Phe2494fs) rs1555192051
NM_003482.4(KMT2D):c.7481dup (p.Ala2496fs) rs35584294
NM_003482.4(KMT2D):c.7933C>T (p.Arg2645Ter) rs1555191740
NM_003482.4(KMT2D):c.8027_8028del (p.Glu2676fs) rs1555191665
NM_003482.4(KMT2D):c.8053C>T (p.Arg2685Ter) rs587783727
NM_003482.4(KMT2D):c.8059C>T (p.Arg2687Ter) rs1555191598
NM_003482.4(KMT2D):c.8171_8175del (p.Pro2724fs) rs587783728
NM_003482.4(KMT2D):c.8350_8351del (p.Met2784fs) rs1555191324
NM_003482.4(KMT2D):c.838A>G (p.Arg280Gly) rs1555198244
NM_003482.4(KMT2D):c.8401C>T (p.Arg2801Ter) rs1555191203
NM_003482.4(KMT2D):c.8474_8477dup (p.Thr2827fs) rs1555191177
NM_003482.4(KMT2D):c.8516C>G (p.Ser2839Ter) rs1555191147
NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729
NM_003482.4(KMT2D):c.8859_8861delinsCA (p.Lys2953fs) rs1555190907
NM_003482.4(KMT2D):c.8952del (p.Lys2985fs) rs1555190806
NM_003482.4(KMT2D):c.9417del (p.Lys3140fs) rs1555190550
NM_003482.4(KMT2D):c.9439G>A (p.Ala3147Thr) rs1555190514
NM_003482.4(KMT2D):c.9595del (p.Ser3199fs) rs1555190391

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