ClinVar Miner

List of variants in gene KMT2E reported by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_182931.3(KMT2E):c.2452C>T (p.Arg818Ter) rs1584802744 0.00001
GRCh37/hg19 7q22.3(chr7:104678742-104730547)
NM_182931.3(KMT2E):c.1130+2T>C rs1554394210
NM_182931.3(KMT2E):c.1239del (p.Asn414fs) rs1584768283
NM_182931.3(KMT2E):c.1603del (p.Leu535fs) rs1584783327
NM_182931.3(KMT2E):c.167del (p.Tyr56fs) rs1584745301
NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs) rs1562927768
NM_182931.3(KMT2E):c.1812del (p.Ile605fs) rs1584796727
NM_182931.3(KMT2E):c.2261del (p.Leu753_Ser754insTer) rs1584802161
NM_182931.3(KMT2E):c.2602_2605del (p.Thr868fs) rs1584803713
NM_182931.3(KMT2E):c.2620C>T (p.Arg874Ter) rs1584803745
NM_182931.3(KMT2E):c.2720A>T (p.Asp907Val) rs1584803942
NM_182931.3(KMT2E):c.280del (p.Thr94fs) rs1584746915
NM_182931.3(KMT2E):c.2936del (p.Leu979fs) rs1584805072
NM_182931.3(KMT2E):c.3070C>T (p.Gln1024Ter) rs1562931936
NM_182931.3(KMT2E):c.3193_3230del (p.Ser1065fs) rs1584805738
NM_182931.3(KMT2E):c.3198del (p.Trp1067fs) rs1584805745
NM_182931.3(KMT2E):c.3494_3495del (p.Arg1165fs) rs1584807827
NM_182931.3(KMT2E):c.3527_3530del (p.Thr1176fs) rs1584807875
NM_182931.3(KMT2E):c.3554C>G (p.Ser1185Ter) rs186916831
NM_182931.3(KMT2E):c.3672_3673del (p.Tyr1224_Asn1225delinsTer) rs1584808269
NM_182931.3(KMT2E):c.4126C>T (p.Pro1376Ser) rs1584816566
NM_182931.3(KMT2E):c.418G>A (p.Val140Ile) rs74375534
NM_182931.3(KMT2E):c.4397_4398insCACAGCATGGTTATCTTTC (p.Pro1467fs) rs1584817521
NM_182931.3(KMT2E):c.4485_4486del (p.Gln1496fs) rs1584817845
NM_182931.3(KMT2E):c.450del (p.Asp150fs) rs1584751179
NM_182931.3(KMT2E):c.4829del (p.Leu1610fs) rs1243172283
NM_182931.3(KMT2E):c.4872del (p.Ala1624_Val1625insTer) rs1584819461
NM_182931.3(KMT2E):c.5453_5460del (p.Val1818fs) rs1584821980
NM_182931.3(KMT2E):c.556+1G>A rs1584761229
NM_182931.3(KMT2E):c.850T>C (p.Tyr284His) rs868001076
NM_182931.3(KMT2E):c.997del (p.Glu333fs) rs1584765943

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