ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_014822.4(SEC24D):c.673+8G>A rs6843524 0.89370
NM_014822.4(SEC24D):c.913+49C>T rs2303513 0.23236
NM_014822.4(SEC24D):c.125T>C (p.Met42Thr) rs10029206 0.01448
NM_014822.4(SEC24D):c.653C>G (p.Ala218Gly) rs35392900 0.00928
NM_014822.4(SEC24D):c.1576C>T (p.Leu526Phe) rs141180741 0.00908
NM_014822.4(SEC24D):c.2959-16G>T rs58916284 0.00425
NM_014822.4(SEC24D):c.1422-9dup rs71595318
NM_014822.4(SEC24D):c.2959-15dup rs140990828
NM_014822.4(SEC24D):c.483T>G (p.Pro161=) rs2389688

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