List of variants reported as pathogenic for Primary ciliary dyskinesia 29

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)	rs121434369	0.00019
NM_021147.5(CCNO):c.248_252dup (p.Gly85fs)	rs587777498
NM_021147.5(CCNO):c.258_262dup (p.Gln88fs)	rs587777499
NM_021147.5(CCNO):c.259_268dup (p.Val90fs)	rs1398588555
NM_021147.5(CCNO):c.263_267dup (p.Val90fs)	rs587777502
NM_021147.5(CCNO):c.425del (p.Pro142fs)	rs752527657
NM_021147.5(CCNO):c.481_482del (p.Leu161fs)	rs587777503
NM_021147.5(CCNO):c.906del (p.Leu303fs)	rs2111713642
NM_021147.5(CCNO):c.926del (p.Pro309fs)	rs587777500
NM_021147.5(CCNO):c.961C>T (p.Gln321Ter)	rs587777501

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