List of variants reported as pathogenic for Cornelia de Lange syndrome 2 by Baylor Genetics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_006306.4(SMC1A):c.1114-2A>G	rs1569358628
NM_006306.4(SMC1A):c.116C>G (p.Ser39Ter)	rs1057518670
NM_006306.4(SMC1A):c.1487G>A (p.Arg496His)	rs122454123
NM_006306.4(SMC1A):c.157dup (p.Thr53fs)	rs2075726992
NM_006306.4(SMC1A):c.2394dup (p.Arg799fs)	rs1569356555
NM_006306.4(SMC1A):c.2547del (p.Ile849fs)	rs797045069
NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs)	rs863225458
NM_006306.4(SMC1A):c.655del (p.Ala219fs)	rs1569359048
NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del)	rs727503773

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