ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 15 by Baylor Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_017950.4(CCDC40):c.1201C>G (p.Leu401Val) rs201126001 0.00081
NM_017950.4(CCDC40):c.3184C>G (p.Leu1062Val) rs369522039 0.00001
NM_017950.4(CCDC40):c.3004dup (p.Ile1002fs) rs1278589861

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