List of variants studied for O'Donnell-Luria-Rodan syndrome by Institute of Human Genetics, Cologne University

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 7q22.3(chr7:104696686-105407628)
GRCh37/hg19 7q22.3(chr7:104730300-104791108)
NM_182931.3(KMT2E):c.1099_1103dup (p.Glu369fs)	rs1797574932
NM_182931.3(KMT2E):c.1646_1650del (p.Ile549fs)	rs2129568919
NM_182931.3(KMT2E):c.183_186+2del	rs2129567141
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.264A>G (p.Glu88=)	rs2129567228
NM_182931.3(KMT2E):c.2714dup (p.Met906fs)	rs2129569834
NM_182931.3(KMT2E):c.2848-2A>C	rs2129569867
NM_182931.3(KMT2E):c.3034C>T (p.Gln1012Ter)	rs2129569889
NM_182931.3(KMT2E):c.4279C>T (p.Gln1427Ter)	rs2129570178
NM_182931.3(KMT2E):c.4829dup (p.Leu1610fs)	rs1243172283
NM_182931.3(KMT2E):c.5054dup (p.Pro1686fs)	rs1799378709
NM_182931.3(KMT2E):c.65del (p.Gly22fs)	rs2129565360
NM_182931.3(KMT2E):c.768+1G>A	rs2129568047

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