ClinVar Miner

List of variants studied for Kabuki syndrome 1 by Mendelics

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Total variants: 24
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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.10256A>G (p.Asp3419Gly) rs146044282 0.00152
NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653 0.00076
NM_003482.4(KMT2D):c.6811C>T (p.Pro2271Ser) rs199802471 0.00034
NM_003482.4(KMT2D):c.12485G>A (p.Arg4162Gln) rs201078160 0.00024
NM_003482.4(KMT2D):c.14893G>A (p.Ala4965Thr) rs200747934 0.00006
NM_003482.4(KMT2D):c.4427C>G (p.Ser1476Cys) rs1227169455 0.00002
NM_003482.4(KMT2D):c.10777del (p.Ala3593fs) rs1592122640
NM_003482.4(KMT2D):c.11766_11825del (p.Leu3926_Gln3945del) rs2120435996
NM_003482.4(KMT2D):c.14140A>T (p.Ile4714Phe) rs1592110609
NM_003482.4(KMT2D):c.14529G>T (p.Lys4843Asn) rs764121956
NM_003482.4(KMT2D):c.14976del (p.Leu4993fs) rs1592106220
NM_003482.4(KMT2D):c.14989C>T (p.Gln4997Ter) rs2120365558
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.4(KMT2D):c.16412+2_16412+16del rs2137704696
NM_003482.4(KMT2D):c.176+1G>A rs1592162768
NM_003482.4(KMT2D):c.2250_2276del (p.746RPEEPHLSP[1]) rs587778449
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu) rs201623566
NM_003482.4(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003482.4(KMT2D):c.4237-2A>C rs797045001
NM_003482.4(KMT2D):c.7021C>T (p.Gln2341Ter) rs1592136242
NM_003482.4(KMT2D):c.8046+4del rs1592133674
NM_003482.4(KMT2D):c.8230-1G>A rs1592132971
NM_003482.4(KMT2D):c.9822GCA[5] (p.Gln3282dup) rs768814728

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