ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 15; sperm axonema without dynein arms and nexin bridges; axonemas with defects on microtubules by Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS)

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_017950.4(CCDC40):c.2620-92C>T	rs569842522	0.00144

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