ClinVar Miner

List of variants studied for Cole-Carpenter syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
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.2536A>G (p.Met846Val) rs34510328 0.00443
NM_014822.4(SEC24D):c.2959-16G>T rs58916284 0.00425
NM_014822.4(SEC24D):c.2681C>T (p.Thr894Met) rs149063473 0.00116
NM_014822.4(SEC24D):c.2135A>C (p.Asn712Thr) rs146773641 0.00071

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