ClinVar Miner

List of variants in gene KMT2A reported by Baylor Genetics

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.2327T>C (p.Val776Ala) rs782746928 0.00003
NM_001197104.2(KMT2A):c.3413A>G (p.Asn1138Ser) rs1031671823 0.00001
NM_001197104.2(KMT2A):c.5176G>A (p.Val1726Met) rs1185271064 0.00001
NM_001197104.2(KMT2A):c.694A>G (p.Lys232Glu) rs1555035596 0.00001
NM_001197104.2(KMT2A):c.7451A>G (p.Asn2484Ser) rs782475453 0.00001
NM_001197104.2(KMT2A):c.10556C>T (p.Pro3519Leu) rs1053444835
NM_001197104.2(KMT2A):c.10840G>C (p.Val3614Leu)
NM_001197104.2(KMT2A):c.125C>T (p.Pro42Leu)
NM_001197104.2(KMT2A):c.1274dup (p.Arg426fs)
NM_001197104.2(KMT2A):c.133C>T (p.Pro45Ser) rs1949186581
NM_001197104.2(KMT2A):c.1395_1396insG (p.Ser466fs) rs1949960915
NM_001197104.2(KMT2A):c.1433G>A (p.Arg478Gln) rs782711809
NM_001197104.2(KMT2A):c.1660C>T (p.Gln554Ter) rs1949967549
NM_001197104.2(KMT2A):c.167C>A (p.Ser56Tyr) rs1949187908
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs) rs782297546
NM_001197104.2(KMT2A):c.3094G>T (p.Ala1032Ser) rs1949994505
NM_001197104.2(KMT2A):c.3190C>T (p.Arg1064Ter) rs1555037629
NM_001197104.2(KMT2A):c.31G>A (p.Ala11Thr)
NM_001197104.2(KMT2A):c.3464G>A (p.Cys1155Tyr) rs1057518074
NM_001197104.2(KMT2A):c.3565T>C (p.Cys1189Arg) rs886041875
NM_001197104.2(KMT2A):c.3968C>T (p.Thr1323Ile) rs1950142519
NM_001197104.2(KMT2A):c.4012+2T>A rs1591385183
NM_001197104.2(KMT2A):c.5494C>A (p.Pro1832Thr) rs797045051
NM_001197104.2(KMT2A):c.7248del (p.Ile2417fs)

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