ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 29 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_016343.4(CENPF):c.8124_8127delinsAGC (p.Lys2709fs)
NM_021147.5(CCNO):c.258_262dup (p.Gln88fs) rs587777499

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