ClinVar Miner

List of variants in gene KMT2A reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.2684A>G (p.Lys895Arg) rs200600434 0.00006
NM_001197104.2(KMT2A):c.10984A>G (p.Ser3662Gly) rs201724738 0.00004
NM_001197104.2(KMT2A):c.7772A>C (p.Tyr2591Ser) rs374420996 0.00002
NM_001197104.2(KMT2A):c.172C>T (p.Pro58Ser) rs1217431375 0.00001
NM_001197104.2(KMT2A):c.4147C>G (p.Leu1383Val) rs782199067 0.00001
NM_001197104.2(KMT2A):c.6767G>A (p.Ser2256Asn) rs782797999 0.00001
NM_001197104.2(KMT2A):c.7496G>A (p.Gly2499Glu) rs1428335461 0.00001
NM_001197104.2(KMT2A):c.8432G>A (p.Arg2811His) rs782705469 0.00001
NM_001197104.2(KMT2A):c.8976G>A (p.Met2992Ile) rs781817780 0.00001
NM_001197104.2(KMT2A):c.9409G>A (p.Gly3137Arg) rs782373344 0.00001
NM_001197104.2(KMT2A):c.10308G>C (p.Gln3436His) rs2134411634
NM_001197104.2(KMT2A):c.10487T>C (p.Met3496Thr)
NM_001197104.2(KMT2A):c.10502A>C (p.Asn3501Thr)
NM_001197104.2(KMT2A):c.10813_10815del (p.Lys3605del) rs781950432
NM_001197104.2(KMT2A):c.122C>G (p.Pro41Arg) rs1555138516
NM_001197104.2(KMT2A):c.1324C>G (p.Arg442Gly)
NM_001197104.2(KMT2A):c.2062T>A (p.Phe688Ile) rs369566552
NM_001197104.2(KMT2A):c.2341A>G (p.Ser781Gly)
NM_001197104.2(KMT2A):c.2470G>C (p.Ala824Pro)
NM_001197104.2(KMT2A):c.2641G>C (p.Glu881Gln)
NM_001197104.2(KMT2A):c.3248G>A (p.Arg1083Gln)
NM_001197104.2(KMT2A):c.3545G>A (p.Arg1182His) rs782323910
NM_001197104.2(KMT2A):c.3605C>G (p.Ser1202Cys)
NM_001197104.2(KMT2A):c.4054A>G (p.Ser1352Gly)
NM_001197104.2(KMT2A):c.4352G>T (p.Cys1451Phe)
NM_001197104.2(KMT2A):c.4466A>G (p.His1489Arg) rs2134328344
NM_001197104.2(KMT2A):c.4479+3A>G rs1950274624
NM_001197104.2(KMT2A):c.4878C>G (p.Asn1626Lys)
NM_001197104.2(KMT2A):c.5171C>T (p.Thr1724Ile)
NM_001197104.2(KMT2A):c.6299A>G (p.His2100Arg)
NM_001197104.2(KMT2A):c.6596G>A (p.Ser2199Asn)
NM_001197104.2(KMT2A):c.65G>C (p.Gly22Ala)
NM_001197104.2(KMT2A):c.7598A>C (p.Glu2533Ala) rs1555046700
NM_001197104.2(KMT2A):c.765A>C (p.Lys255Asn) rs1555035634
NM_001197104.2(KMT2A):c.8387G>T (p.Gly2796Val)
NM_001197104.2(KMT2A):c.850A>C (p.Lys284Gln)
NM_001197104.2(KMT2A):c.9307C>G (p.Gln3103Glu)
NM_001197104.2(KMT2A):c.973G>C (p.Glu325Gln)
NM_001197104.2(KMT2A):c.9803A>C (p.His3268Pro)

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