ClinVar Miner

List of variants in gene KMT2A reported as likely pathogenic for not provided

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Total variants: 34
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 11q23.3(chr11:118354898-118355690)x1
NM_001197104.2(KMT2A):c.11071+2T>C rs2134431662
NM_001197104.2(KMT2A):c.139G>C (p.Gly47Arg) rs1131691365
NM_001197104.2(KMT2A):c.1808del (p.Pro603fs) rs2134264496
NM_001197104.2(KMT2A):c.2322_2323del (p.Ser775fs) rs1555036478
NM_001197104.2(KMT2A):c.2517dup (p.Thr840fs) rs1057519149
NM_001197104.2(KMT2A):c.2719C>T (p.Pro907Ser) rs1064797056
NM_001197104.2(KMT2A):c.3044del (p.Lys1015fs)
NM_001197104.2(KMT2A):c.3193G>T (p.Gly1065Ter) rs1064797162
NM_001197104.2(KMT2A):c.3215G>T (p.Cys1072Phe) rs1085307947
NM_001197104.2(KMT2A):c.3452G>A (p.Arg1151Gln) rs1555038083
NM_001197104.2(KMT2A):c.3460C>T (p.Arg1154Trp) rs1555038090
NM_001197104.2(KMT2A):c.3541G>C (p.Gly1181Arg) rs1950071303
NM_001197104.2(KMT2A):c.3541G>T (p.Gly1181Cys) rs1950071303
NM_001197104.2(KMT2A):c.3559C>T (p.Gln1187Ter)
NM_001197104.2(KMT2A):c.3569+3A>C rs1064796644
NM_001197104.2(KMT2A):c.3635-2del rs2134299169
NM_001197104.2(KMT2A):c.4177dup (p.Ile1393fs) rs1591388321
NM_001197104.2(KMT2A):c.4301G>C (p.Cys1434Ser) rs1131691287
NM_001197104.2(KMT2A):c.4367A>G (p.His1456Arg) rs1131691433
NM_001197104.2(KMT2A):c.4423TGT[1] (p.Cys1476del) rs1555041617
NM_001197104.2(KMT2A):c.4480-18_4480del
NM_001197104.2(KMT2A):c.4480-1G>T
NM_001197104.2(KMT2A):c.478C>T (p.Arg160Ter) rs1555034779
NM_001197104.2(KMT2A):c.5351A>G (p.Lys1784Arg) rs1064796776
NM_001197104.2(KMT2A):c.5802+2T>A
NM_001197104.2(KMT2A):c.5962-1G>A
NM_001197104.2(KMT2A):c.6034A>T (p.Lys2012Ter) rs782727635
NM_001197104.2(KMT2A):c.6079+2T>C
NM_001197104.2(KMT2A):c.6505+1G>A rs1555045834
NM_001197104.2(KMT2A):c.7567_7570del (p.Val2523fs) rs797044565
NM_001197104.2(KMT2A):c.7659dup (p.Glu2554fs) rs1057520177
NM_001197104.2(KMT2A):c.7874G>T (p.Arg2625Leu) rs1555046870
NM_001197104.2(KMT2A):c.93_163del (p.Arg32fs) rs2134152451

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