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

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_005445.4(SMC3):c.1680T>C (p.Tyr560=)	rs75817442	0.00402
NM_005445.4(SMC3):c.255A>G (p.Ser85=)	rs146433240	0.00287
NM_005445.4(SMC3):c.2934G>A (p.Lys978=)	rs147463420	0.00135
NM_005445.4(SMC3):c.2329T>C (p.Leu777=)	rs76625999	0.00132
NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg)	rs142524280	0.00057
NM_005445.4(SMC3):c.2535+15T>G	rs3818903	0.00040
NM_005445.4(SMC3):c.1581T>C (p.His527=)	rs182445355	0.00009
NM_005445.4(SMC3):c.2493T>C (p.Tyr831=)	rs112525060	0.00007
NM_005445.4(SMC3):c.2268+4C>T	rs587784426	0.00004
NM_005445.4(SMC3):c.507C>T (p.Asp169=)	rs370909218	0.00004
NM_005445.4(SMC3):c.2299T>C (p.Leu767=)	rs139763232	0.00001
NM_005445.4(SMC3):c.2264C>T (p.Pro755Leu)	rs76568464
NM_005445.4(SMC3):c.2427+13C>T	rs190798929
NM_005445.4(SMC3):c.2710T>C (p.Trp904Arg)	rs112281749
NM_005445.4(SMC3):c.2964T>C (p.Asp988=)	rs111611128
NM_005445.4(SMC3):c.377A>G (p.Glu126Gly)	rs113411202

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