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

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_006265.3(RAD21):c.1127C>G (p.Pro376Arg)	rs387907212
NM_006265.3(RAD21):c.1217_1224del (p.Lys406fs)	rs1812376090
NM_006265.3(RAD21):c.1548delinsTC (p.Glu518fs)	rs1812331711
NM_006265.3(RAD21):c.1621-384_1704+199del
NM_006265.3(RAD21):c.1753T>C (p.Cys585Arg)	rs387907213
NM_006265.3(RAD21):c.1774_1776del (p.Gln592del)	rs1563686762
NM_006265.3(RAD21):c.1843G>T (p.Glu615Ter)	rs1425483905
NM_006265.3(RAD21):c.589C>T (p.Gln197Ter)	rs1352385210
NM_006265.3(RAD21):c.593dup (p.Ser198fs)	rs2130469261
NM_006265.3(RAD21):c.704del (p.Ser235fs)	rs1812478613
NM_006265.3(RAD21):c.943_946del (p.Glu315fs)	rs2130463115

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