List of variants reported as pathogenic for Cornelia de Lange syndrome 4 by Invitae

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NC_000008.11:g.(?_116857267)_(116863259_?)del
NM_006265.3(RAD21):c.1045dup (p.Thr349fs)
NM_006265.3(RAD21):c.1306C>T (p.Gln436Ter)	rs1563688680
NM_006265.3(RAD21):c.1432C>T (p.Arg478Ter)	rs748575266
NM_006265.3(RAD21):c.1753T>C (p.Cys585Arg)	rs387907213
NM_006265.3(RAD21):c.193C>T (p.Arg65Ter)
NM_006265.3(RAD21):c.466C>T (p.Gln156Ter)	rs1812515682
NM_006265.3(RAD21):c.589C>T (p.Gln197Ter)	rs1352385210
NM_006265.3(RAD21):c.683del (p.Ile228fs)
NM_006265.3(RAD21):c.943_946del (p.Glu315fs)	rs2130463115

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