ClinVar Miner

List of variants reported as pathogenic for Primary ciliary dyskinesia 28 by OMIM

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NC_000008.11:g.100151617_100163589del
NM_003114.5(SPAG1):c.2T>G (p.Met1Arg) rs397518458

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