ClinVar Miner

List of variants reported as likely pathogenic for Primary ciliary dyskinesia 15 by Fulgent Genetics, Fulgent Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_017950.4(CCDC40):c.3175C>T (p.Arg1059Ter)	rs1312712049	0.00001
NM_017950.4(CCDC40):c.2712-1G>T	rs370706991
NM_017950.4(CCDC40):c.424C>T (p.Gln142Ter)	rs1568667609

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