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

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_014822.4(SEC24D):c.1576C>T (p.Leu526Phe)	rs141180741	0.00908
NM_014822.4(SEC24D):c.2536A>G (p.Met846Val)	rs34510328	0.00443
NM_014822.4(SEC24D):c.700G>A (p.Ala234Thr)	rs73842254	0.00315
NM_014822.4(SEC24D):c.181C>A (p.Pro61Thr)	rs143180885	0.00162
NM_014822.4(SEC24D):c.1042-6C>G	rs117971741	0.00120
NM_014822.4(SEC24D):c.2681C>T (p.Thr894Met)	rs149063473	0.00116
NM_014822.4(SEC24D):c.2135A>C (p.Asn712Thr)	rs146773641	0.00071
NM_000918.4(P4HB):c.430G>A (p.Ala144Thr)	rs138621837	0.00009
NM_000918.4(P4HB):c.84G>A (p.Val28=)
NM_014822.4(SEC24D):c.2093-14T>C

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