List of variants studied for Cornelia de Lange syndrome 2 by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_006306.4(SMC1A):c.1478A>C (p.Glu493Ala)	rs122454122
NM_006306.4(SMC1A):c.1487G>A (p.Arg496His)	rs122454123
NM_006306.4(SMC1A):c.173_187del (p.Val58_Arg62del)
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr)	rs387906702
NM_006306.4(SMC1A):c.2493_2495del (p.Asp831_Gln832delinsGlu)	rs1602407457
SMC1A, 8.152-KB DEL

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