List of variants reported as benign for Cole-Carpenter syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_014822.4(SEC24D):c.125T>C (p.Met42Thr)	rs10029206	0.01448
NM_014822.4(SEC24D):c.653C>G (p.Ala218Gly)	rs35392900	0.00928
NM_014822.4(SEC24D):c.1576C>T (p.Leu526Phe)	rs141180741	0.00908
NM_014822.4(SEC24D):c.2959-16G>T	rs58916284	0.00425

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