ClinVar Miner

List of variants in gene CLXN reported as likely pathogenic for ciliary dyskinesia, primary, 53

Included ClinVar conditions (1):

Ciliary dyskinesia, primary, 53

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_024593.4(CLXN):c.292C>T (p.Arg98Ter)	rs751867551	0.00001
NM_024593.4(CLXN):c.367G>T (p.Glu123Ter)	rs1803178017

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