List of variants reported as uncertain significance for Cornelia de Lange syndrome 3 by Illumina Laboratory Services, Illumina

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_005445.4(SMC3):c.*304T>G	rs755315364	0.00035
NM_005445.4(SMC3):c.2062G>C (p.Glu688Gln)	rs201162818	0.00013
NM_005445.4(SMC3):c.-115T>C	rs886046691	0.00006
NM_005445.4(SMC3):c.2589A>G (p.Thr863=)	rs768482776	0.00003
NM_005445.4(SMC3):c.*327G>C	rs1030439322	0.00002
NM_005445.4(SMC3):c.-65T>A	rs886046692	0.00002
NM_005445.4(SMC3):c.369C>T (p.Asn123=)	rs779773957	0.00002
NM_005445.4(SMC3):c.*228C>T	rs1486030712	0.00001
NM_005445.4(SMC3):c.-90G>A	rs1333533101	0.00001
NM_005445.4(SMC3):c.1998G>C (p.Gly666=)	rs142669130	0.00001
NM_005445.4(SMC3):c.2163C>T (p.Ile721=)	rs1193209124	0.00001
NM_005445.4(SMC3):c.2645-8C>T	rs886046695	0.00001
NM_005445.3(SMC3):c.-136A>G	rs994198170
NM_005445.4(SMC3):c.*12T>A	rs1861435243
NM_005445.4(SMC3):c.*36A>G	rs1861435668
NM_005445.4(SMC3):c.*50C>G	rs368890227
NM_005445.4(SMC3):c.*77C>T	rs886046696
NM_005445.4(SMC3):c.1190dup (p.Glu398fs)
NM_005445.4(SMC3):c.1330G>A (p.Val444Ile)	rs1861177028
NM_005445.4(SMC3):c.1558C>A (p.Arg520Ser)	rs768778247
NM_005445.4(SMC3):c.2085G>A (p.Lys695=)	rs886046694
NM_005445.4(SMC3):c.2406T>C (p.Asp802=)	rs934660926
NM_005445.4(SMC3):c.2472T>C (p.Ile824=)	rs1861369074
NM_005445.4(SMC3):c.2892+9T>C	rs1861393233
NM_005445.4(SMC3):c.3147T>C (p.Pro1049=)	rs1861402400
NM_005445.4(SMC3):c.723+4A>T	rs886046693
NM_005445.4(SMC3):c.929A>G (p.Lys310Arg)	rs1861062802

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