List of variants reported as pathogenic for Cole-Carpenter syndrome

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_014822.4(SEC24D):c.938G>A (p.Arg313His)	rs148676365	0.00006
NM_014822.4(SEC24D):c.1450C>T (p.Arg484Ter)	rs1372766642	0.00001
NM_014822.4(SEC24D):c.2723G>A (p.Cys908Tyr)	rs1182434832	0.00001
NM_014822.4(SEC24D):c.2933A>C (p.Gln978Pro)	rs786204846	0.00001
NM_000918.4(P4HB):c.1178A>G (p.Tyr393Cys)	rs786204843
NM_014822.4(SEC24D):c.113dup (p.Thr39fs)	rs759594785
NM_014822.4(SEC24D):c.2496G>T (p.Gln832His)	rs1578383414
NM_014822.4(SEC24D):c.2842T>C (p.Ser948Pro)	rs1175597762
NM_014822.4(SEC24D):c.3044C>T (p.Ser1015Phe)	rs760670617
NM_014822.4(SEC24D):c.613C>T (p.Gln205Ter)	rs786204845
NM_014822.4(SEC24D):c.875C>T (p.Pro292Leu)	rs1578456973

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