ClinVar Miner

List of variants in gene KMT2E reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_182931.3(KMT2E):c.5061C>T (p.Ala1687=) rs149720943 0.00723
NM_182931.3(KMT2E):c.4270T>C (p.Ser1424Pro) rs35605511 0.00462
NM_182931.3(KMT2E):c.4182C>G (p.His1394Gln) rs80217393 0.00361
NM_182931.3(KMT2E):c.498-7A>G rs117695886 0.00312
NM_182931.3(KMT2E):c.4497T>C (p.Phe1499=) rs115252503 0.00273
NM_182931.3(KMT2E):c.5350C>T (p.Pro1784Ser) rs145540034 0.00197
NM_182931.3(KMT2E):c.4220A>G (p.Asn1407Ser) rs77885224 0.00161
NM_182931.3(KMT2E):c.3584A>G (p.Asn1195Ser) rs145923995 0.00069
NM_182931.3(KMT2E):c.4985T>C (p.Val1662Ala) rs144315355 0.00058
NM_182931.3(KMT2E):c.729+4C>T rs151308476 0.00048
NM_182931.3(KMT2E):c.42G>A (p.Thr14=) rs150090175 0.00047
NM_182931.3(KMT2E):c.2887C>T (p.Arg963Cys) rs375398229 0.00046
NM_182931.3(KMT2E):c.3973C>T (p.Pro1325Ser) rs187060721 0.00046
NM_182931.3(KMT2E):c.3755+7C>T rs369016998 0.00033
NM_182931.3(KMT2E):c.1518T>C (p.Asn506=) rs193092945 0.00024
NM_182931.3(KMT2E):c.5034C>T (p.Pro1678=) rs140014560 0.00024
NM_182931.3(KMT2E):c.5256G>A (p.Ser1752=) rs149960021 0.00024
NM_182931.3(KMT2E):c.1446T>C (p.Asn482=) rs138172976 0.00023
NM_182931.3(KMT2E):c.3554C>T (p.Ser1185Leu) rs186916831 0.00016
NM_182931.3(KMT2E):c.3123G>A (p.Thr1041=) rs146313083 0.00015
NM_182931.3(KMT2E):c.4914G>A (p.Pro1638=) rs546519781 0.00009
NM_182931.3(KMT2E):c.2631T>C (p.Tyr877=) rs200933164 0.00008
NM_182931.3(KMT2E):c.1188T>C (p.Asp396=) rs924223497 0.00007
NM_182931.3(KMT2E):c.2701A>T (p.Thr901Ser) rs200234811 0.00007
NM_182931.3(KMT2E):c.5271T>C (p.Thr1757=) rs753557046 0.00006
NM_182931.3(KMT2E):c.3579C>T (p.Ser1193=) rs751973974 0.00004
NM_182931.3(KMT2E):c.142A>G (p.Ser48Gly) rs780152679 0.00003
NM_182931.3(KMT2E):c.2514C>G (p.Pro838=) rs1179601208 0.00003
NM_182931.3(KMT2E):c.2888G>A (p.Arg963His) rs370198555 0.00003
NM_182931.3(KMT2E):c.1224G>A (p.Arg408=) rs1255063775 0.00001
NM_182931.3(KMT2E):c.1934T>G (p.Val645Gly) rs368566319 0.00001
NM_182931.3(KMT2E):c.21G>A (p.Leu7=) rs773324013 0.00001
NM_182931.3(KMT2E):c.3432G>A (p.Gly1144=) rs1798983164 0.00001
NM_182931.3(KMT2E):c.4199A>C (p.Gln1400Pro) rs1799311792 0.00001
NM_182931.3(KMT2E):c.1112A>G (p.Asn371Ser)
NM_182931.3(KMT2E):c.1359-5T>C rs368989105
NM_182931.3(KMT2E):c.1442T>C (p.Ile481Thr)
NM_182931.3(KMT2E):c.1508A>G (p.Asp503Gly)
NM_182931.3(KMT2E):c.1538G>A (p.Cys513Tyr) rs1409281677
NM_182931.3(KMT2E):c.1660_1662del (p.Pro554del) rs1798193187
NM_182931.3(KMT2E):c.2011G>A (p.Val671Ile) rs2536493119
NM_182931.3(KMT2E):c.2414_2418del (p.Lys805fs)
NM_182931.3(KMT2E):c.254G>A (p.Ser85Asn)
NM_182931.3(KMT2E):c.311C>G (p.Thr104Ser)
NM_182931.3(KMT2E):c.3191A>G (p.Tyr1064Cys) rs1236868466
NM_182931.3(KMT2E):c.3210C>A (p.Ser1070Arg)
NM_182931.3(KMT2E):c.3221C>T (p.Thr1074Ile)
NM_182931.3(KMT2E):c.347C>T (p.Thr116Ile)
NM_182931.3(KMT2E):c.3838G>C (p.Asp1280His) rs2536517747
NM_182931.3(KMT2E):c.3938G>A (p.Gly1313Asp) rs2536518699
NM_182931.3(KMT2E):c.4130_4132delinsT (p.Asp1377fs) rs2536523348
NM_182931.3(KMT2E):c.4431C>T (p.Pro1477=) rs779892341
NM_182931.3(KMT2E):c.4639CCACCTCCT[1] (p.Pro1550_Pro1552del) rs749591342
NM_182931.3(KMT2E):c.4656_4661del (p.Ser1554_Ser1555del) rs748335836
NM_182931.3(KMT2E):c.4762C>A (p.Gln1588Lys) rs748333500
NM_182931.3(KMT2E):c.4829dup (p.Leu1610fs) rs1243172283
NM_182931.3(KMT2E):c.5037A>C (p.Pro1679=) rs780033817
NM_182931.3(KMT2E):c.5043A>C (p.Pro1681=) rs780916307
NM_182931.3(KMT2E):c.5210A>G (p.Gln1737Arg) rs2536528316
NM_182931.3(KMT2E):c.5239C>G (p.Pro1747Ala) rs117789844
NM_182931.3(KMT2E):c.5366C>T (p.Pro1789Leu)
NM_182931.3(KMT2E):c.544G>A (p.Glu182Lys) rs2536417194
NM_182931.3(KMT2E):c.5555dup (p.Tyr1852Ter) rs1799414845
NM_182931.3(KMT2E):c.714T>G (p.Ile238Met)
NM_182931.3(KMT2E):c.72-3dup rs750861444
NM_182931.3(KMT2E):c.778C>T (p.Pro260Ser) rs982318080
NM_182931.3(KMT2E):c.800A>G (p.Asp267Gly) rs1481805983

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