ClinVar Miner

List of variants in gene KMT2D reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 58
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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.6821C>T (p.Ser2274Leu) rs767236217 0.00010
NM_003482.4(KMT2D):c.10966C>T (p.Arg3656Cys) rs201283589 0.00007
NM_003482.4(KMT2D):c.553C>T (p.Arg185Cys) rs201796530 0.00007
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.4392C>A (p.Val1464=) rs758265897 0.00006
NM_003482.4(KMT2D):c.12172A>G (p.Met4058Val) rs398123710 0.00005
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.4182C>T (p.Leu1394=) rs797045665 0.00004
NM_003482.4(KMT2D):c.5752C>T (p.Arg1918Cys) rs747722455 0.00004
NM_003482.4(KMT2D):c.7498G>A (p.Ala2500Thr) rs746638965 0.00004
NM_003482.4(KMT2D):c.12664C>G (p.Leu4222Val) rs375330730 0.00003
NM_003482.4(KMT2D):c.2533C>T (p.Arg845Trp) rs746841307 0.00003
NM_003482.4(KMT2D):c.4941C>T (p.Thr1647=) rs748740454 0.00003
NM_003482.4(KMT2D):c.7108C>T (p.Arg2370Cys) rs1028524252 0.00003
NM_003482.4(KMT2D):c.11641A>G (p.Met3881Val) rs797045657 0.00002
NM_003482.4(KMT2D):c.6501G>A (p.Val2167=) rs751139032 0.00002
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.5966C>T (p.Thr1989Met) rs754420100 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.812C>G (p.Pro271Arg) rs755198691 0.00001
NM_003482.4(KMT2D):c.825G>A (p.Val275=) rs200767468 0.00001
NM_003482.4(KMT2D):c.11563G>C (p.Ala3855Pro) rs77538244
NM_003482.4(KMT2D):c.12768C>T (p.Leu4256=) rs71464946
NM_003482.4(KMT2D):c.1377_1403del (p.Ala464_Glu472del) rs1376080610
NM_003482.4(KMT2D):c.14839C>T (p.Pro4947Ser) rs1406097470
NM_003482.4(KMT2D):c.15184T>C (p.Cys5062Arg) rs2120362837
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.15370A>G (p.Met5124Val)
NM_003482.4(KMT2D):c.15668A>G (p.Asn5223Ser) rs779303083
NM_003482.4(KMT2D):c.1899G>T (p.Ser633=) rs769981040
NM_003482.4(KMT2D):c.1978T>G (p.Ser660Ala) rs1938044612
NM_003482.4(KMT2D):c.2078C>A (p.Pro693His) rs76663644
NM_003482.4(KMT2D):c.2283_2309del (p.Ala765_Gln773del) rs375538882
NM_003482.4(KMT2D):c.2657C>T (p.Pro886Leu) rs587783709
NM_003482.4(KMT2D):c.400+7_400+8insC rs797045664
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.4343G>A (p.Cys1448Tyr) rs587783716
NM_003482.4(KMT2D):c.4366T>A (p.Cys1456Ser) rs797045666
NM_003482.4(KMT2D):c.4418+5G>A rs587783717
NM_003482.4(KMT2D):c.5598A>C (p.Pro1866=) rs2120563844
NM_003482.4(KMT2D):c.6276C>T (p.Asp2092=) rs1388239595
NM_003482.4(KMT2D):c.7377C>T (p.Ser2459=) rs1208811629
NM_003482.4(KMT2D):c.7981C>T (p.Leu2661Phe) rs1370465303
NM_003482.4(KMT2D):c.8360A>C (p.Asn2787Thr) rs78415116
NM_003482.4(KMT2D):c.968G>A (p.Cys323Tyr) rs78617409

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