ClinVar Miner

List of variants in gene KMT2A reported by Genetic Services Laboratory, University of Chicago

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.7254C>T (p.Asn2418=) rs2071702 0.07440
NM_001197104.2(KMT2A):c.5679A>G (p.Leu1893=) rs7107305 0.04025
NM_001197104.2(KMT2A):c.4284A>C (p.Ile1428=) rs9332801 0.04002
NM_001197104.2(KMT2A):c.8961T>A (p.Thr2987=) rs9332842 0.01910
NM_001197104.2(KMT2A):c.89C>G (p.Ala30Gly) rs9332745 0.01573
NM_001197104.2(KMT2A):c.1504G>A (p.Glu502Lys) rs9332772 0.00614
NM_001197104.2(KMT2A):c.6572G>A (p.Arg2191Gln) rs141727765 0.00109
NM_001197104.2(KMT2A):c.2965C>T (p.Leu989Phe) rs139989306 0.00101
NM_001197104.2(KMT2A):c.6009C>T (p.Asp2003=) rs77421119 0.00086
NM_001197104.2(KMT2A):c.1810A>G (p.Met604Val) rs150328852 0.00046
NM_001197104.2(KMT2A):c.10113G>A (p.Arg3371=) rs369292004 0.00013
NM_001197104.2(KMT2A):c.9769T>C (p.Leu3257=) rs138046203 0.00011
NM_001197104.2(KMT2A):c.10835+1G>C rs141515578 0.00004
NM_001197104.2(KMT2A):c.10178T>C (p.Leu3393Pro) rs1555048205
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs) rs782297546
NM_001197104.2(KMT2A):c.2569G>T (p.Glu857Ter) rs2134270387
NM_001197104.2(KMT2A):c.2673_2674del (p.Arg893fs) rs587783676
NM_001197104.2(KMT2A):c.3461G>A (p.Arg1154Gln) rs1131691799
NM_001197104.2(KMT2A):c.3473G>A (p.Cys1158Tyr) rs1131691503
NM_001197104.2(KMT2A):c.4426T>A (p.Cys1476Ser) rs587783677
NM_001197104.2(KMT2A):c.458C>G (p.Ser153Ter) rs587783678
NM_001197104.2(KMT2A):c.6158+6T>C rs1555045177
NM_001197104.2(KMT2A):c.6811del (p.Arg2271fs) rs797045656
NM_001197104.2(KMT2A):c.7831G>T (p.Glu2611Ter) rs587783679
NM_001197104.2(KMT2A):c.8095C>T (p.Arg2699Ter) rs587783680
NM_001197104.2(KMT2A):c.8543T>C (p.Leu2848Pro) rs1555047266

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