List of variants reported as likely benign for Cornelia de Lange syndrome 1 by Illumina Laboratory Services, Illumina

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Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_133433.4(NIPBL):c.4561-9T>A	rs79924167	0.02103
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr)	rs142923613	0.00365
NM_133433.4(NIPBL):c.-312T>A	rs540966156	0.00284
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys)	rs185678374	0.00061
NM_133433.4(NIPBL):c.5709+4G>A	rs370325589	0.00050
NM_133433.4(NIPBL):c.615G>A (p.Ser205=)	rs150678035	0.00048
NM_133433.4(NIPBL):c.5011-13A>G	rs13177643	0.00038
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=)	rs140021654	0.00037
NM_133433.4(NIPBL):c.198C>G (p.Val66=)	rs146033170	0.00036
NM_133433.4(NIPBL):c.179A>G (p.Asn60Ser)	rs142703446	0.00029
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His)	rs80358359	0.00028
NM_133433.4(NIPBL):c.1992C>T (p.Asn664=)	rs116049172	0.00019
NM_133433.4(NIPBL):c.2673C>T (p.Asp891=)	rs376637245	0.00016
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=)	rs200440893	0.00014
NM_133433.4(NIPBL):c.6645A>G (p.Leu2215=)	rs149186951	0.00013
NM_133433.4(NIPBL):c.4776+12G>A	rs199632698	0.00010
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser)	rs2291703	0.00009
NM_133433.4(NIPBL):c.6438C>T (p.Thr2146=)	rs376448686	0.00006
NM_133433.4(NIPBL):c.7047T>C (p.Tyr2349=)	rs398124470	0.00006
NM_133433.4(NIPBL):c.2856G>A (p.Ala952=)	rs371566938	0.00003
NM_133433.4(NIPBL):c.4041A>G (p.Thr1347=)	rs373206831	0.00002
NM_133433.4(NIPBL):c.4699C>A (p.Gln1567Lys)	rs780708835	0.00002
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=)	rs555179389	0.00001
NM_133433.4(NIPBL):c.1208C>T (p.Thr403Ile)	rs746183321
NM_133433.4(NIPBL):c.4321-15A>G	rs587783946

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