ClinVar Miner

List of variants in gene KMT2A reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.10209G>A (p.Pro3403=) rs9332843 0.00817
NM_001197104.2(KMT2A):c.7689A>G (p.Ser2563=) rs9332840 0.00784
NM_001197104.2(KMT2A):c.4218+20A>G rs9332798 0.00681
NM_001197104.2(KMT2A):c.9039T>A (p.Gly3013=) rs142875797 0.00175
NM_001197104.2(KMT2A):c.6572G>A (p.Arg2191Gln) rs141727765 0.00109
NM_001197104.2(KMT2A):c.9391G>A (p.Gly3131Ser) rs150804738 0.00097
NM_001197104.2(KMT2A):c.4326T>C (p.His1442=) rs141961986 0.00093
NM_001197104.2(KMT2A):c.8697A>G (p.Val2899=) rs139469741 0.00029
NM_001197104.2(KMT2A):c.6576C>T (p.Ser2192=) rs201483860 0.00021
NM_001197104.2(KMT2A):c.9947C>T (p.Ala3316Val) rs201447376 0.00011
NM_001197104.2(KMT2A):c.6158+9C>T rs200249108 0.00009
NM_001197104.2(KMT2A):c.9342A>C (p.Thr3114=) rs782427944 0.00006
NM_001197104.2(KMT2A):c.2600G>A (p.Ser867Asn) rs782215946 0.00003
NM_001197104.2(KMT2A):c.3635-7C>T rs782489094 0.00002
NM_001197104.2(KMT2A):c.135G>A (p.Pro45=) rs9332746 0.00001
NM_001197104.2(KMT2A):c.188CGG[4] (p.Ala67del) rs781936420
NM_001197104.2(KMT2A):c.5958C>T (p.Gly1986=) rs1555044758
NM_001197104.2(KMT2A):c.8095C>T (p.Arg2699Ter) rs587783680

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