ClinVar Miner

List of variants reported as likely benign for ciliopathy by UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001206927.2(DNAH8):c.13381C>T (p.Arg4461Cys) rs143714496 0.00205
NM_001206927.2(DNAH8):c.2174C>G (p.Ala725Gly) rs61757621 0.00170
NM_178452.6(DNAAF1):c.1499C>G (p.Pro500Arg) rs138838276 0.00072
NM_181426.2(CCDC39):c.1555C>A (p.His519Asn) rs374289303 0.00020

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