List of variants reported as uncertain significance for Cole-Carpenter syndrome 2

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_014822.4(SEC24D):c.2135A>C (p.Asn712Thr)	rs146773641	0.00071
NM_014822.4(SEC24D):c.1790A>T (p.Asp597Val)	rs375796795	0.00019
NM_014822.4(SEC24D):c.-167C>T
NM_014822.4(SEC24D):c.1261T>C (p.Ser421Pro)
NM_014822.4(SEC24D):c.1614-10T>A	rs1404593679
NM_014822.4(SEC24D):c.719G>A (p.Gly240Glu)

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