ClinVar Miner

List of variants in gene KMT2A reported as uncertain significance for Inborn genetic diseases

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.7147G>A (p.Asp2383Asn) rs376579850 0.00004
NM_001197104.2(KMT2A):c.2426C>T (p.Ser809Phe) rs374005016 0.00002
NM_001197104.2(KMT2A):c.5256A>C (p.Lys1752Asn) rs1555043352 0.00001
NM_001197104.2(KMT2A):c.680C>A (p.Thr227Asn) rs1385508131 0.00001
NM_001197104.2(KMT2A):c.1001A>C (p.Lys334Thr)
NM_001197104.2(KMT2A):c.10045A>G (p.Met3349Val) rs1950574083
NM_001197104.2(KMT2A):c.10574G>A (p.Gly3525Glu)
NM_001197104.2(KMT2A):c.10718C>T (p.Pro3573Leu)
NM_001197104.2(KMT2A):c.1144G>A (p.Gly382Arg)
NM_001197104.2(KMT2A):c.1337C>T (p.Thr446Ile)
NM_001197104.2(KMT2A):c.1340C>T (p.Pro447Leu)
NM_001197104.2(KMT2A):c.140G>A (p.Gly47Asp)
NM_001197104.2(KMT2A):c.154G>C (p.Gly52Arg)
NM_001197104.2(KMT2A):c.1589G>T (p.Arg530Met)
NM_001197104.2(KMT2A):c.1607G>C (p.Arg536Thr)
NM_001197104.2(KMT2A):c.160C>G (p.Pro54Ala)
NM_001197104.2(KMT2A):c.172C>A (p.Pro58Thr)
NM_001197104.2(KMT2A):c.2029C>G (p.Arg677Gly)
NM_001197104.2(KMT2A):c.208A>G (p.Ser70Gly)
NM_001197104.2(KMT2A):c.2394T>G (p.Phe798Leu) rs1949981074
NM_001197104.2(KMT2A):c.2584C>G (p.Arg862Gly)
NM_001197104.2(KMT2A):c.27C>A (p.Phe9Leu)
NM_001197104.2(KMT2A):c.3157G>A (p.Gly1053Ser) rs145549283
NM_001197104.2(KMT2A):c.3376G>A (p.Ala1126Thr)
NM_001197104.2(KMT2A):c.3436G>T (p.Val1146Leu)
NM_001197104.2(KMT2A):c.3437T>C (p.Val1146Ala)
NM_001197104.2(KMT2A):c.3539G>T (p.Gly1180Val) rs1555038115
NM_001197104.2(KMT2A):c.3704A>C (p.Lys1235Thr)
NM_001197104.2(KMT2A):c.3730C>A (p.Pro1244Thr)
NM_001197104.2(KMT2A):c.3770G>T (p.Ser1257Ile) rs988213215
NM_001197104.2(KMT2A):c.397T>G (p.Phe133Val)
NM_001197104.2(KMT2A):c.404A>G (p.Glu135Gly)
NM_001197104.2(KMT2A):c.4086G>A (p.Lys1362=) rs1950151911
NM_001197104.2(KMT2A):c.4807T>C (p.Ser1603Pro)
NM_001197104.2(KMT2A):c.518G>A (p.Arg173Gln) rs1949944579
NM_001197104.2(KMT2A):c.5335T>C (p.Phe1779Leu) rs1950377167
NM_001197104.2(KMT2A):c.6374C>G (p.Pro2125Arg)
NM_001197104.2(KMT2A):c.6922G>A (p.Gly2308Arg)
NM_001197104.2(KMT2A):c.7097A>C (p.Glu2366Ala) rs1555046355
NM_001197104.2(KMT2A):c.7337G>A (p.Ser2446Asn)
NM_001197104.2(KMT2A):c.8046A>T (p.Leu2682Phe)
NM_001197104.2(KMT2A):c.8096G>A (p.Arg2699Gln)
NM_001197104.2(KMT2A):c.8878G>C (p.Glu2960Gln)
NM_001197104.2(KMT2A):c.9083A>C (p.Asn3028Thr)
NM_001197104.2(KMT2A):c.9539T>G (p.Ile3180Ser)
NM_001197104.2(KMT2A):c.9695G>A (p.Arg3232Gln)
NM_001197104.2(KMT2A):c.9929G>A (p.Gly3310Glu)

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