List of variants in gene SEC24D reported as uncertain significance for Cole-Carpenter syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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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.2734C>T (p.Arg912Cys)	rs150351420	0.00028
NM_014822.4(SEC24D):c.1790A>T (p.Asp597Val)	rs375796795	0.00019
NM_014822.4(SEC24D):c.781C>T (p.Pro261Ser)	rs763522207	0.00002
NM_014822.4(SEC24D):c.1261T>C (p.Ser421Pro)	rs1727563747	0.00001
NM_014822.4(SEC24D):c.719G>A (p.Gly240Glu)	rs1295702283	0.00001
NM_014822.4(SEC24D):c.1614-10T>A	rs1404593679

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