ClinVar Miner

List of variants studied for O'Donnell-Luria-Rodan syndrome

Included ClinVar conditions (1):
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Total variants: 84
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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.2452C>T (p.Arg818Ter) rs1584802744 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
GRCh37/hg19 7q22.3(chr7:104696686-105407628)
GRCh37/hg19 7q22.3(chr7:104730300-104791108)
NM_182931.3(KMT2E):c.1068_1074del (p.Tyr358fs)
NM_182931.3(KMT2E):c.1099_1103dup (p.Glu369fs) rs1797574932
NM_182931.3(KMT2E):c.1213C>T (p.Arg405Ter)
NM_182931.3(KMT2E):c.1349A>G (p.Tyr450Cys)
NM_182931.3(KMT2E):c.1373A>T (p.Asp458Val) rs1798135752
NM_182931.3(KMT2E):c.1388_1389del (p.Lys463fs)
NM_182931.3(KMT2E):c.13A>T (p.Ile5Phe)
NM_182931.3(KMT2E):c.1474_1478dup (p.Lys494fs)
NM_182931.3(KMT2E):c.1474_1481del (p.Gly492fs)
NM_182931.3(KMT2E):c.14T>A (p.Ile5Asn)
NM_182931.3(KMT2E):c.1646_1650del (p.Ile549fs) rs2129568919
NM_182931.3(KMT2E):c.1710dup (p.Lys571fs)
NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs) rs1562927768
NM_182931.3(KMT2E):c.1792A>G (p.Arg598Gly) rs2129569484
NM_182931.3(KMT2E):c.183_186+2del rs2129567141
NM_182931.3(KMT2E):c.186G>A (p.Ala62=)
NM_182931.3(KMT2E):c.187-9A>G
NM_182931.3(KMT2E):c.2051_2052dup (p.Glu685Ter) rs1562928193
NM_182931.3(KMT2E):c.2107G>T (p.Glu703Ter) rs1798679896
NM_182931.3(KMT2E):c.2164_2167del (p.Lys722fs) rs1476442868
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.2555del (p.Asn852fs)
NM_182931.3(KMT2E):c.2596+15dup rs758362004
NM_182931.3(KMT2E):c.264A>G (p.Glu88=) rs2129567228
NM_182931.3(KMT2E):c.2714dup (p.Met906fs) rs2129569834
NM_182931.3(KMT2E):c.2720A>T (p.Asp907Val) rs1584803942
NM_182931.3(KMT2E):c.2793T>G (p.Tyr931Ter)
NM_182931.3(KMT2E):c.2848-1G>A rs1798939855
NM_182931.3(KMT2E):c.2848-2A>C rs2129569867
NM_182931.3(KMT2E):c.2881_2882del (p.Lys961fs)
NM_182931.3(KMT2E):c.2924C>T (p.Thr975Ile)
NM_182931.3(KMT2E):c.3034C>T (p.Gln1012Ter) rs2129569889
NM_182931.3(KMT2E):c.316A>G (p.Ile106Val)
NM_182931.3(KMT2E):c.3469G>A (p.Val1157Ile)
NM_182931.3(KMT2E):c.3476T>C (p.Leu1159Pro)
NM_182931.3(KMT2E):c.3489dup (p.Lys1164Ter) rs1479029169
NM_182931.3(KMT2E):c.3554C>G (p.Ser1185Ter) rs186916831
NM_182931.3(KMT2E):c.3672_3673del (p.Tyr1224_Asn1225delinsTer) rs1584808269
NM_182931.3(KMT2E):c.3757A>G (p.Thr1253Ala) rs1799157164
NM_182931.3(KMT2E):c.3784A>T (p.Arg1262Ter)
NM_182931.3(KMT2E):c.3853dup (p.Ser1285fs)
NM_182931.3(KMT2E):c.3908C>G (p.Ser1303Ter) rs1799182705
NM_182931.3(KMT2E):c.3917dup (p.Pro1307fs) rs1799183455
NM_182931.3(KMT2E):c.3970+13A>G rs2129570095
NM_182931.3(KMT2E):c.4068G>C (p.Lys1356Asn)
NM_182931.3(KMT2E):c.417-2dup rs768141716
NM_182931.3(KMT2E):c.418G>A (p.Val140Ile) rs74375534
NM_182931.3(KMT2E):c.4244A>C (p.His1415Pro)
NM_182931.3(KMT2E):c.4279C>T (p.Gln1427Ter) rs2129570178
NM_182931.3(KMT2E):c.4487_4489del (p.Gln1496del)
NM_182931.3(KMT2E):c.450dup (p.Arg151Ter) rs1584751177
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.4743_4744del (p.Phe1582fs)
NM_182931.3(KMT2E):c.4754G>A (p.Gly1585Glu)
NM_182931.3(KMT2E):c.4829dup (p.Leu1610fs) rs1243172283
NM_182931.3(KMT2E):c.4913C>T (p.Pro1638Leu)
NM_182931.3(KMT2E):c.5054dup (p.Pro1686fs) rs1799378709
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.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.65del (p.Gly22fs) rs2129565360
NM_182931.3(KMT2E):c.670A>C (p.Asn224His) rs2129567977
NM_182931.3(KMT2E):c.702_705del (p.Lys234fs)
NM_182931.3(KMT2E):c.768+1G>A rs2129568047
NM_182931.3(KMT2E):c.847C>T (p.Arg283Ter)
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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