List of variants reported as pathogenic for O'Donnell-Luria-Rodan syndrome

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_182931.3(KMT2E):c.2452C>T (p.Arg818Ter)	rs1584802744	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.1474_1478dup (p.Lys494fs)
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.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.2555del (p.Asn852fs)
NM_182931.3(KMT2E):c.2714dup (p.Met906fs)	rs2129569834
NM_182931.3(KMT2E):c.2720A>T (p.Asp907Val)	rs1584803942
NM_182931.3(KMT2E):c.3034C>T (p.Gln1012Ter)	rs2129569889
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.3853dup (p.Ser1285fs)
NM_182931.3(KMT2E):c.3908C>G (p.Ser1303Ter)	rs1799182705
NM_182931.3(KMT2E):c.418G>A (p.Val140Ile)	rs74375534
NM_182931.3(KMT2E):c.450dup (p.Arg151Ter)	rs1584751177
NM_182931.3(KMT2E):c.702_705del (p.Lys234fs)
NM_182931.3(KMT2E):c.847C>T (p.Arg283Ter)

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