ClinVar Miner

List of variants reported as pathogenic for Kabuki syndrome 1 by Autoinflammatory diseases unit, CHU de Montpellier

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.10694del (p.Lys3565fs) rs1943095795
NM_003482.4(KMT2D):c.10740G>T (p.Gln3580His) rs398123700
NM_003482.4(KMT2D):c.10841C>G (p.Ser3614Ter) rs758877211
NM_003482.4(KMT2D):c.11203C>T (p.Gln3735Ter) rs1943059195
NM_003482.4(KMT2D):c.11425del (p.Val3809fs) rs1943046189
NM_003482.4(KMT2D):c.11524C>T (p.Gln3842Ter) rs1943040858
NM_003482.4(KMT2D):c.11597dup (p.Gln3867fs) rs1943033366
NM_003482.4(KMT2D):c.11632C>T (p.Gln3878Ter) rs1397969096
NM_003482.4(KMT2D):c.11679del (p.Met3894fs) rs1943027165
NM_003482.4(KMT2D):c.11770dup (p.Gln3924fs) rs1943016320
NM_003482.4(KMT2D):c.11827C>T (p.Gln3943Ter) rs1943006802
NM_003482.4(KMT2D):c.11851C>T (p.Gln3951Ter) rs1943001493
NM_003482.4(KMT2D):c.11944C>T (p.Arg3982Ter) rs1555188379
NM_003482.4(KMT2D):c.11977C>T (p.Gln3993Ter) rs749377569
NM_003482.4(KMT2D):c.12183del (p.Glu4061fs) rs1942971523
NM_003482.4(KMT2D):c.12301C>T (p.Gln4101Ter) rs1942965341
NM_003482.4(KMT2D):c.12442_12455del (p.Met4148fs) rs1942957967
NM_003482.4(KMT2D):c.12469C>T (p.Gln4157Ter) rs1555188080
NM_003482.4(KMT2D):c.1257del (p.Ala422fs) rs1938140093
NM_003482.4(KMT2D):c.12592C>T (p.Arg4198Ter) rs587783685
NM_003482.4(KMT2D):c.12598C>T (p.Gln4200Ter) rs1942949318
NM_003482.4(KMT2D):c.12600_12604dup (p.Gln4202fs) rs1942949098
NM_003482.4(KMT2D):c.12700_12701del (p.Gln4235fs) rs1942942020
NM_003482.4(KMT2D):c.12757dup (p.Leu4253fs) rs1942938251
NM_003482.4(KMT2D):c.12943C>T (p.Gln4315Ter) rs1942924286
NM_003482.4(KMT2D):c.12955A>T (p.Arg4319Ter) rs1942923153
NM_003482.4(KMT2D):c.13014del (p.Thr4339fs) rs1942919472
NM_003482.4(KMT2D):c.13201C>T (p.Gln4401Ter) rs1942908701
NM_003482.4(KMT2D):c.13297dup (p.Arg4433fs) rs1942904418
NM_003482.4(KMT2D):c.13378del (p.His4460fs) rs1942899021
NM_003482.4(KMT2D):c.13450C>T (p.Arg4484Ter) rs587783690
NM_003482.4(KMT2D):c.13606C>T (p.Arg4536Ter) rs587783692
NM_003482.4(KMT2D):c.1363del (p.Glu455fs) rs1938115946
NM_003482.4(KMT2D):c.13780del (p.Ala4594fs) rs797044740
NM_003482.4(KMT2D):c.14076-1G>A rs1942763268
NM_003482.4(KMT2D):c.14189G>A (p.Trp4730Ter) rs1555186527
NM_003482.4(KMT2D):c.14515+1del rs1942691966
NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter) rs398123721
NM_003482.4(KMT2D):c.14803G>T (p.Glu4935Ter) rs1404087769
NM_003482.4(KMT2D):c.14975del (p.Leu4992fs) rs1942629238
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.4(KMT2D):c.15349T>G (p.Cys5117Gly) rs1942604482
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.15545dup (p.Leu5183fs) rs1942591784
NM_003482.4(KMT2D):c.15640C>T (p.Arg5214Cys) rs398123728
NM_003482.4(KMT2D):c.15673C>T (p.Arg5225Cys) rs1942584412
NM_003482.4(KMT2D):c.15730A>T (p.Lys5244Ter) rs1942579666
NM_003482.4(KMT2D):c.15781C>T (p.Gln5261Ter) rs1942575636
NM_003482.4(KMT2D):c.15844C>T (p.Arg5282Ter) rs587783698
NM_003482.4(KMT2D):c.15920C>G (p.Ser5307Ter) rs1942494207
NM_003482.4(KMT2D):c.16052G>A (p.Arg5351Gln) rs1555185217
NM_003482.4(KMT2D):c.16116dup (p.Asn5373fs) rs1942391847
NM_003482.4(KMT2D):c.16360C>T (p.Arg5454Ter) rs267607239
NM_003482.4(KMT2D):c.16438_16441del (p.Asn5480fs) rs587783703
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_003482.4(KMT2D):c.16498C>T (p.Arg5500Trp) rs1555184609
NM_003482.4(KMT2D):c.16501C>T (p.Arg5501Ter) rs886041398
NM_003482.4(KMT2D):c.166C>T (p.Gln56Ter) rs1592162790
NM_003482.4(KMT2D):c.169del (p.Asp57fs) rs1938314766
NM_003482.4(KMT2D):c.2164del (p.Glu722fs) rs1064796275
NM_003482.4(KMT2D):c.2506dup (p.Gln836fs) rs1937965638
NM_003482.4(KMT2D):c.2760_2782del (p.Gly921fs) rs1937935080
NM_003482.4(KMT2D):c.3326_3336del (p.Ala1109fs) rs1565813691
NM_003482.4(KMT2D):c.3540del (p.Pro1181fs) rs1937846568
NM_003482.4(KMT2D):c.3903dup (p.Gln1302fs) rs1565812092
NM_003482.4(KMT2D):c.3906+2T>C rs1937804892
NM_003482.4(KMT2D):c.400+2T>C rs1938283570
NM_003482.4(KMT2D):c.4093G>T (p.Val1365Phe) rs1937710190
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs) rs398123744
NM_003482.4(KMT2D):c.4148G>A (p.Cys1383Tyr) rs1064794026
NM_003482.4(KMT2D):c.4359C>A (p.His1453Gln) rs767737749
NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs) rs1555193738
NM_003482.4(KMT2D):c.5764C>T (p.Gln1922Ter) rs1943600170
NM_003482.4(KMT2D):c.5867+5G>A rs1943591477
NM_003482.4(KMT2D):c.5983G>T (p.Gly1995Ter) rs1393276376
NM_003482.4(KMT2D):c.6183G>A (p.Leu2061=) rs1943551792
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter) rs1452715535
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.4(KMT2D):c.6622C>T (p.Gln2208Ter) rs1943503824
NM_003482.4(KMT2D):c.6962T>G (p.Leu2321Ter) rs1943478443
NM_003482.4(KMT2D):c.751dup (p.Tyr251fs) rs1938216771
NM_003482.4(KMT2D):c.8053C>T (p.Arg2685Ter) rs587783727
NM_003482.4(KMT2D):c.8200C>T (p.Arg2734Ter) rs1565790749
NM_003482.4(KMT2D):c.8263A>T (p.Lys2755Ter) rs1943374805
NM_003482.4(KMT2D):c.8311C>T (p.Arg2771Ter) rs1251778848
NM_003482.4(KMT2D):c.8366+2T>C rs1943368267
NM_003482.4(KMT2D):c.8488C>T (p.Arg2830Ter) rs727503983
NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729
NM_003482.4(KMT2D):c.8780C>G (p.Ser2927Ter) rs1943336569
NM_003482.4(KMT2D):c.9014_9015del (p.Asp3005fs) rs1943323407
NM_003482.4(KMT2D):c.9022G>T (p.Glu3008Ter) rs1943323180
NM_003482.4(KMT2D):c.9730G>T (p.Glu3244Ter) rs1258009682
NM_003482.4(KMT2D):c.9829C>T (p.Gln3277Ter) rs1943280408
NM_003482.4(KMT2D):c.9961C>T (p.Arg3321Ter) rs793888512

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