ClinVar Miner

List of variants reported as likely pathogenic for Cole-Carpenter syndrome 2

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_014822.4(SEC24D):c.1724G>C (p.Gly575Ala)	rs1726439532	0.00001
NM_014822.4(SEC24D):c.1055T>A (p.Leu352Ter)	rs2530136674
NM_014822.4(SEC24D):c.958C>T (p.Pro320Ser)	rs2530206539

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