ClinVar Miner

List of variants in gene KMT2E reported as uncertain significance for O'Donnell-Luria-Rodan syndrome

Included ClinVar conditions (1):
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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_182931.3(KMT2E):c.1922C>G (p.Thr641Ser) rs779107545 0.00001
NM_182931.3(KMT2E):c.2530A>G (p.Arg844Gly) rs376005597 0.00001
NM_182931.3(KMT2E):c.3729T>A (p.Ser1243Arg) rs1799060392 0.00001
NM_182931.3(KMT2E):c.4235C>T (p.Ser1412Leu) rs1799314293 0.00001
NM_182931.3(KMT2E):c.4778C>T (p.Thr1593Ile) rs111828689 0.00001
NM_182931.3(KMT2E):c.1130+3A>G
NM_182931.3(KMT2E):c.1282C>T (p.Leu428Phe)
NM_182931.3(KMT2E):c.1349A>G (p.Tyr450Cys)
NM_182931.3(KMT2E):c.1373A>T (p.Asp458Val) rs1798135752
NM_182931.3(KMT2E):c.13A>T (p.Ile5Phe)
NM_182931.3(KMT2E):c.14T>A (p.Ile5Asn)
NM_182931.3(KMT2E):c.1698G>C (p.Gln566His)
NM_182931.3(KMT2E):c.1993C>T (p.Arg665Cys)
NM_182931.3(KMT2E):c.2302G>A (p.Ala768Thr)
NM_182931.3(KMT2E):c.2321T>C (p.Leu774Ser)
NM_182931.3(KMT2E):c.241T>C (p.Ser81Pro)
NM_182931.3(KMT2E):c.2596+15dup rs758362004
NM_182931.3(KMT2E):c.2621G>A (p.Arg874Gln)
NM_182931.3(KMT2E):c.2623_2625del (p.Arg875del)
NM_182931.3(KMT2E):c.2924C>T (p.Thr975Ile)
NM_182931.3(KMT2E):c.2963C>T (p.Thr988Ile)
NM_182931.3(KMT2E):c.316A>G (p.Ile106Val)
NM_182931.3(KMT2E):c.3423G>C (p.Leu1141Phe)
NM_182931.3(KMT2E):c.3469G>A (p.Val1157Ile)
NM_182931.3(KMT2E):c.3757A>G (p.Thr1253Ala) rs1799157164
NM_182931.3(KMT2E):c.3970+13A>G rs2129570095
NM_182931.3(KMT2E):c.417-2dup rs768141716
NM_182931.3(KMT2E):c.419T>A (p.Val140Asp)
NM_182931.3(KMT2E):c.4244A>C (p.His1415Pro)
NM_182931.3(KMT2E):c.4477C>T (p.Arg1493Ter)
NM_182931.3(KMT2E):c.4487_4489del (p.Gln1496del)
NM_182931.3(KMT2E):c.4540A>G (p.Thr1514Ala)
NM_182931.3(KMT2E):c.4650_4658del (p.Pro1551_Ser1553del)
NM_182931.3(KMT2E):c.4695C>A (p.Asn1565Lys)
NM_182931.3(KMT2E):c.4736A>T (p.Gln1579Leu)
NM_182931.3(KMT2E):c.4897_4902del (p.Pro1633_Pro1634del)
NM_182931.3(KMT2E):c.4913C>T (p.Pro1638Leu)
NM_182931.3(KMT2E):c.4934A>G (p.Asn1645Ser)
NM_182931.3(KMT2E):c.4952C>G (p.Ser1651Cys)
NM_182931.3(KMT2E):c.5078dup (p.Pro1694fs)
NM_182931.3(KMT2E):c.5219del (p.His1740fs)
NM_182931.3(KMT2E):c.5251C>T (p.Pro1751Ser)
NM_182931.3(KMT2E):c.5260G>T (p.Ala1754Ser)
NM_182931.3(KMT2E):c.5356_5382del (p.Cys1786_His1794del)
NM_182931.3(KMT2E):c.5444C>T (p.Pro1815Leu)
NM_182931.3(KMT2E):c.5483dup (p.Gln1829fs)
NM_182931.3(KMT2E):c.5539_5541del (p.Thr1847del)
NM_182931.3(KMT2E):c.670A>C (p.Asn224His) rs2129567977
NM_182931.3(KMT2E):c.705ACA[1] (p.Gln236del) rs1206063396
NM_182931.3(KMT2E):c.730-6_730-2del
NM_182931.3(KMT2E):c.946A>T (p.Met316Leu)
NM_182931.3(KMT2E):c.986A>C (p.Lys329Thr)
NM_182931.3(KMT2E):c.991C>T (p.Pro331Ser)

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