ClinVar Miner

List of variants in gene CFAP418 reported as likely pathogenic for bardet-biedl syndrome 21

Included ClinVar conditions (2):

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_177965.4(CFAP418):c.177del (p.Glu60fs)	rs1811931460
NM_177965.4(CFAP418):c.240del (p.Ser81fs)	rs1587357327

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