ClinVar Miner

List of variants in gene SEC24D reported as pathogenic for Cole-Carpenter syndrome 2

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Total variants: 10
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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_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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