ClinVar Miner

List of variants studied for Kabuki syndrome 1 by Genetic Services Laboratory, University of Chicago

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Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.6807C>T (p.Ser2269=) rs73302197 0.01361
NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602 0.00159
NM_003482.4(KMT2D):c.11886A>G (p.Gln3962=) rs180784366 0.00056
NM_003482.4(KMT2D):c.15671G>A (p.Arg5224His) rs3782356 0.00025
NM_003482.4(KMT2D):c.11043G>A (p.Gln3681=) rs371444130 0.00016
NM_003482.4(KMT2D):c.10444C>T (p.Arg3482Trp) rs201127814 0.00014
NM_003482.4(KMT2D):c.7198C>G (p.Pro2400Ala) rs35111108 0.00007
NM_003482.4(KMT2D):c.12270G>A (p.Gln4090=) rs370665309 0.00006
NM_003482.4(KMT2D):c.10312G>A (p.Val3438Met) rs35087111 0.00004
NM_003482.4(KMT2D):c.16412+13G>A rs587783701 0.00004
NM_003482.4(KMT2D):c.14840C>A (p.Pro4947His) rs587783694 0.00001
NM_003482.4(KMT2D):c.4123C>T (p.Leu1375=) rs1368572 0.00001
NM_003482.4(KMT2D):c.6640G>A (p.Ala2214Thr) rs587783724 0.00001
NM_003482.4(KMT2D):c.6844C>T (p.Arg2282Trp) rs587783726 0.00001
NM_003482.4(KMT2D):c.7170G>A (p.Pro2390=) rs3741625 0.00001
NM_003482.4(KMT2D):c.10784A>G (p.Tyr3595Cys) rs1555189207
NM_003482.4(KMT2D):c.11263C>T (p.Gln3755Ter) rs587783681
NM_003482.4(KMT2D):c.11290C>T (p.Gln3764Ter) rs587783682
NM_003482.4(KMT2D):c.11386del (p.Gln3796fs) rs587783683
NM_003482.4(KMT2D):c.11563G>C (p.Ala3855Pro) rs77538244
NM_003482.4(KMT2D):c.11845C>T (p.Gln3949Ter) rs797045658
NM_003482.4(KMT2D):c.12592C>T (p.Arg4198Ter) rs587783685
NM_003482.4(KMT2D):c.12768C>T (p.Leu4256=) rs71464946
NM_003482.4(KMT2D):c.12896del (p.Gly4299fs) rs587783686
NM_003482.4(KMT2D):c.12956_12957del (p.Arg4319fs) rs587783687
NM_003482.4(KMT2D):c.12962C>A (p.Ser4321Ter) rs587783688
NM_003482.4(KMT2D):c.1329_1332del (p.Pro444fs) rs587783689
NM_003482.4(KMT2D):c.13450C>T (p.Arg4484Ter) rs587783690
NM_003482.4(KMT2D):c.13518del (p.Ser4507fs) rs587783691
NM_003482.4(KMT2D):c.13606C>T (p.Arg4536Ter) rs587783692
NM_003482.4(KMT2D):c.13996_13997del (p.Arg4666fs) rs587783693
NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter) rs398123721
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.4(KMT2D):c.15079C>T (p.Arg5027Ter) rs797045659
NM_003482.4(KMT2D):c.15195G>A (p.Trp5065Ter) rs587783696
NM_003482.4(KMT2D):c.15245T>G (p.Val5082Gly) rs75031009
NM_003482.4(KMT2D):c.15361G>T (p.Ala5121Ser) rs79330925
NM_003482.4(KMT2D):c.15791G>A (p.Trp5264Ter) rs587783697
NM_003482.4(KMT2D):c.15844C>T (p.Arg5282Ter) rs587783698
NM_003482.4(KMT2D):c.15943C>T (p.Gln5315Ter) rs587783699
NM_003482.4(KMT2D):c.16411A>T (p.Arg5471Trp) rs587783700
NM_003482.4(KMT2D):c.16413G>T (p.Arg5471Ser) rs587783702
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.1813G>T (p.Glu605Ter) rs587783705
NM_003482.4(KMT2D):c.2078C>A (p.Pro693His) rs76663644
NM_003482.4(KMT2D):c.256G>T (p.Glu86Ter) rs587783708
NM_003482.4(KMT2D):c.2657C>T (p.Pro886Leu) rs587783709
NM_003482.4(KMT2D):c.2954_2955insT (p.Pro986fs) rs797045660
NM_003482.4(KMT2D):c.303del (p.Ser102fs) rs797045661
NM_003482.4(KMT2D):c.3121C>T (p.Gln1041Ter) rs587783711
NM_003482.4(KMT2D):c.3553C>T (p.Gln1185Ter) rs587783712
NM_003482.4(KMT2D):c.3585dup (p.Pro1196fs) rs797045662
NM_003482.4(KMT2D):c.3591del (p.Thr1198fs) rs797045663
NM_003482.4(KMT2D):c.3695del (p.Pro1232fs) rs587783713
NM_003482.4(KMT2D):c.3803A>C (p.Asp1268Ala) rs74643880
NM_003482.4(KMT2D):c.400+1G>C rs587783714
NM_003482.4(KMT2D):c.4083G>C (p.Gln1361His) rs764941
NM_003482.4(KMT2D):c.4131G>C (p.Gln1377His) rs764942
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs) rs398123744
NM_003482.4(KMT2D):c.4209C>A (p.Cys1403Ter) rs1555195441
NM_003482.4(KMT2D):c.4221del (p.Cys1408fs) rs587783715
NM_003482.4(KMT2D):c.4343G>A (p.Cys1448Tyr) rs587783716
NM_003482.4(KMT2D):c.4418+5G>A rs587783717
NM_003482.4(KMT2D):c.4421G>A (p.Cys1474Tyr) rs587783718
NM_003482.4(KMT2D):c.4739del (p.Pro1580fs) rs587783719
NM_003482.4(KMT2D):c.4981dup (p.Glu1661fs) rs797045667
NM_003482.4(KMT2D):c.5269C>T (p.Arg1757Ter) rs1555194045
NM_003482.4(KMT2D):c.603_604dup (p.Gly202fs) rs1555198491
NM_003482.4(KMT2D):c.6086del (p.Pro2029fs) rs587783723
NM_003482.4(KMT2D):c.6126C>A (p.Cys2042Ter) rs556669370
NM_003482.4(KMT2D):c.6171dup (p.Ala2058fs) rs797045668
NM_003482.4(KMT2D):c.6172del (p.Ala2058fs) rs797045669
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.4(KMT2D):c.6670_6674del (p.Gly2224fs) rs587783725
NM_003482.4(KMT2D):c.8053C>T (p.Arg2685Ter) rs587783727
NM_003482.4(KMT2D):c.8171_8175del (p.Pro2724fs) rs587783728
NM_003482.4(KMT2D):c.8360A>C (p.Asn2787Thr) rs78415116
NM_003482.4(KMT2D):c.836dup (p.Cys279fs) rs797045670
NM_003482.4(KMT2D):c.8445_8475dup (p.Ala2826fs) rs797045671
NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729
NM_003482.4(KMT2D):c.9540del (p.Glu3181fs) rs797045672
NM_003482.4(KMT2D):c.968G>A (p.Cys323Tyr) rs78617409

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