ClinVar Miner

List of variants in gene KMT2A reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.89C>G (p.Ala30Gly) rs9332745 0.01573
NM_001197104.2(KMT2A):c.158C>T (p.Ala53Val) rs9332747 0.00631
NM_001197104.2(KMT2A):c.1504G>A (p.Glu502Lys) rs9332772 0.00614
NM_001197104.2(KMT2A):c.9391G>A (p.Gly3131Ser) rs150804738 0.00097
NM_001197104.2(KMT2A):c.10850T>C (p.Leu3617Pro) rs146191865 0.00089
NM_001197104.2(KMT2A):c.2726G>A (p.Gly909Asp) rs139227835 0.00065
NM_001197104.2(KMT2A):c.10474G>A (p.Ala3492Thr) rs559663507 0.00013
NM_001197104.2(KMT2A):c.6521C>T (p.Thr2174Ile) rs781855910 0.00001
NM_001197104.2(KMT2A):c.2982_2984del (p.Ser997del) rs1057520073
NM_001197104.2(KMT2A):c.7659dup (p.Glu2554fs) rs1057520177

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