ClinVar Miner

List of variants in gene KMT2A studied for See cases

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.2600G>A (p.Ser867Asn) rs782215946 0.00003
NM_001197104.2(KMT2A):c.8041G>A (p.Asp2681Asn) rs1202827611 0.00001
NM_001197104.2(KMT2A):c.1652dup (p.Ser551fs) rs2134263239
NM_001197104.2(KMT2A):c.2452A>T (p.Lys818Ter) rs2134268866
NM_001197104.2(KMT2A):c.265G>A (p.Ala89Thr) rs1555138701
NM_001197104.2(KMT2A):c.3472T>C (p.Cys1158Arg) rs2134287093
NM_001197104.2(KMT2A):c.5935C>T (p.Arg1979Ter) rs2134367981
NM_001197104.2(KMT2A):c.6571C>T (p.Arg2191Ter) rs200497972
NM_001197104.2(KMT2A):c.8207C>A (p.Thr2736Lys)

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