ClinVar Miner

List of variants in gene KMT2A reported by Mendelics

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.10802A>G (p.Gln3601Arg) rs1591288712
NM_001197104.2(KMT2A):c.173dup (p.Ala59fs) rs1555138552
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs) rs782297546
NM_001197104.2(KMT2A):c.3019G>T (p.Gly1007Cys) rs940325244
NM_001197104.2(KMT2A):c.3455C>A (p.Ser1152Ter) rs1591381084
NM_001197104.2(KMT2A):c.3461G>A (p.Arg1154Gln) rs1131691799
NM_001197104.2(KMT2A):c.3462del (p.Cys1155fs) rs2134286994
NM_001197104.2(KMT2A):c.3547A>G (p.Asn1183Asp) rs2134287568
NM_001197104.2(KMT2A):c.3592C>T (p.Gln1198Ter) rs1591383060
NM_001197104.2(KMT2A):c.3680_3683del (p.Asp1227fs) rs1591384640
NM_001197104.2(KMT2A):c.4367A>G (p.His1456Arg) rs1131691433
NM_001197104.2(KMT2A):c.4429CGT[1] (p.Arg1478del) rs1591393351
NM_001197104.2(KMT2A):c.502+1G>A rs1591371152
NM_001197104.2(KMT2A):c.5431C>T (p.Arg1811Ter) rs1555043796
NM_001197104.2(KMT2A):c.6989del (p.Gly2330fs) rs2134387390
NM_001197104.2(KMT2A):c.7643del (p.Ala2548fs) rs1591282224
NM_001197104.2(KMT2A):c.7899del (p.Thr2635fs) rs1591282615
NM_001197104.2(KMT2A):c.7914T>A (p.Tyr2638Ter) rs1385902057
NM_001197104.2(KMT2A):c.8204_8225del (p.Ala2735fs) rs2134397119

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