List of variants reported as pathogenic for Cornelia de Lange syndrome 3 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_005445.4(SMC3):c.1127A>G (p.Tyr376Cys)
NM_005445.4(SMC3):c.1480_1481dup (p.Gln494fs)	rs2493126414
NM_005445.4(SMC3):c.1892T>C (p.Leu631Pro)	rs2493131897
NM_005445.4(SMC3):c.2530G>T (p.Glu844Ter)	rs2493145293
NM_005445.4(SMC3):c.2899C>T (p.Arg967Ter)	rs774545380
NM_005445.4(SMC3):c.3454C>T (p.Gln1152Ter)
NM_005445.4(SMC3):c.661C>T (p.Arg221Ter)	rs1564789897

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