ClinVar Miner

List of variants in gene KMT2A reported by New York Genome Center

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.6632G>A (p.Arg2211Gln) rs140529566 0.00004
NM_001197104.2(KMT2A):c.2405C>G (p.Ser802Cys) rs782623689 0.00002
NM_001197104.2(KMT2A):c.9379C>T (p.Pro3127Ser) rs1461830365 0.00002
NM_001197104.2(KMT2A):c.2929G>A (p.Gly977Ser) rs782439084 0.00001
NM_001197104.2(KMT2A):c.10549G>A (p.Gly3517Ser) rs2134413643
NM_001197104.2(KMT2A):c.129del (p.Pro45fs) rs2134152803
NM_001197104.2(KMT2A):c.130C>A (p.Pro44Thr) rs1437526128
NM_001197104.2(KMT2A):c.226G>T (p.Gly76Trp) rs1949190966
NM_001197104.2(KMT2A):c.2797C>T (p.Arg933Trp) rs782407414
NM_001197104.2(KMT2A):c.2986T>C (p.Ser996Pro) rs1949992868
NM_001197104.2(KMT2A):c.4333-2A>G rs2134327570
NM_001197104.2(KMT2A):c.4433G>A (p.Arg1478His) rs1555041629
NM_001197104.2(KMT2A):c.6518C>T (p.Pro2173Leu) rs2134384180
NM_001197104.2(KMT2A):c.7020del (p.Asn2340fs) rs1950523317
NM_001197104.2(KMT2A):c.7706G>C (p.Gly2569Ala) rs1854349115

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