List of variants reported as benign for Cole-Carpenter syndrome 2

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_014822.4(SEC24D):c.673+8G>A	rs6843524	0.89370
NM_014822.4(SEC24D):c.913+49C>T	rs2303513	0.23236
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
NM_014822.4(SEC24D):c.1422-9dup	rs71595318
NM_014822.4(SEC24D):c.2959-15dup	rs140990828
NM_014822.4(SEC24D):c.483T>G (p.Pro161=)	rs2389688

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