ClinVar Miner

List of variants in gene KMT2D reported as likely benign for Kabuki syndrome 1

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 0.00847
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689 0.00433
NM_003482.4(KMT2D):c.6076A>G (p.Ile2026Val) rs190995850 0.00402
NM_003482.4(KMT2D):c.6180C>T (p.Tyr2060=) rs186577948 0.00315
NM_003482.4(KMT2D):c.12867C>T (p.Leu4289=) rs202082835 0.00294
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869 0.00260
NM_003482.4(KMT2D):c.11141G>A (p.Arg3714Lys) rs186696516 0.00216
NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011 0.00195
NM_003482.4(KMT2D):c.8149C>T (p.Pro2717Ser) rs201336660 0.00165
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282 0.00152
NM_003482.4(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524 0.00127
NM_003482.4(KMT2D):c.4401C>T (p.Gly1467=) rs192659833 0.00108
NM_003482.4(KMT2D):c.1938C>G (p.Pro646=) rs147212187 0.00107
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_003482.4(KMT2D):c.5874C>T (p.Arg1958=) rs182887940 0.00091
NM_003482.4(KMT2D):c.1120C>A (p.Pro374Thr) rs202013880 0.00075
NM_003482.4(KMT2D):c.1365A>G (p.Glu455=) rs141231056 0.00026
NM_003482.4(KMT2D):c.6437C>T (p.Pro2146Leu) rs563981206 0.00026
NM_003482.4(KMT2D):c.10423G>A (p.Ala3475Thr) rs370434981 0.00024
NM_003482.4(KMT2D):c.6836G>A (p.Gly2279Glu) rs200578414 0.00020
NM_003482.4(KMT2D):c.8382C>A (p.Gly2794=) rs368967997 0.00020
NM_003482.4(KMT2D):c.2506C>A (p.Gln836Lys) rs200192746 0.00019
NM_003482.4(KMT2D):c.9343C>T (p.Leu3115Phe) rs587778471 0.00016
NM_003482.4(KMT2D):c.15558C>T (p.His5186=) rs2024 0.00013
NM_003482.4(KMT2D):c.6643T>A (p.Ser2215Thr) rs200080744 0.00009
NM_003482.4(KMT2D):c.859A>G (p.Lys287Glu) rs375915416 0.00007
NM_003482.4(KMT2D):c.7136C>T (p.Ala2379Val) rs200842315 0.00005
NM_003482.4(KMT2D):c.14574G>A (p.Lys4858=) rs562830182 0.00004
NM_003482.4(KMT2D):c.5752C>T (p.Arg1918Cys) rs747722455 0.00004
NM_003482.4(KMT2D):c.10410G>T (p.Leu3470=) rs747438612 0.00001
NM_003482.4(KMT2D):c.12634C>T (p.Arg4212Trp) rs760279999 0.00001
NM_003482.4(KMT2D):c.14581G>A (p.Asp4861Asn) rs202167830 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.5782+1G>A rs766123066 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.10255G>T (p.Asp3419Tyr) rs2120462024
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.11738AGC[8] (p.Gln3919dup) rs576788910
NM_003482.4(KMT2D):c.12053C>T (p.Thr4018Ile) rs1304208223
NM_003482.4(KMT2D):c.12697C>T (p.Gln4233Ter) rs1555187930
NM_003482.4(KMT2D):c.12935C>T (p.Ser4312Phe) rs1565772915
NM_003482.4(KMT2D):c.14140A>T (p.Ile4714Phe) rs1592110609
NM_003482.4(KMT2D):c.14354T>C (p.Met4785Thr)
NM_003482.4(KMT2D):c.14795C>T (p.Pro4932Leu)
NM_003482.4(KMT2D):c.1912C>G (p.Pro638Ala) rs372919446
NM_003482.4(KMT2D):c.2250_2276del (p.746RPEEPHLSP[1]) rs587778449
NM_003482.4(KMT2D):c.5189-13G>A rs375365635
NM_003482.4(KMT2D):c.5473G>A (p.Asp1825Asn) rs202048008
NM_003482.4(KMT2D):c.6607A>T (p.Thr2203Ser) rs1943505364
NM_003482.4(KMT2D):c.6625C>T (p.Pro2209Ser) rs1943503730
NM_003482.4(KMT2D):c.6765G>A (p.Leu2255=) rs886037915
NM_003482.4(KMT2D):c.7451T>C (p.Leu2484Pro) rs1555192083
NM_003482.4(KMT2D):c.8046+4del rs1592133674
NM_003482.4(KMT2D):c.8074C>T (p.Arg2692Trp)
NM_003482.4(KMT2D):c.8148T>C (p.Pro2716=) rs369429157
NM_003482.4(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser) rs398123761
NM_003482.4(KMT2D):c.9439G>A (p.Ala3147Thr) rs1555190514

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