List of variants in gene combination BBS1, ZDHHC24 reported as likely pathogenic for perceptual disorders

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00212
NM_024649.5(BBS1):c.1110+3G>C	rs762276925
NM_024649.5(BBS1):c.1205T>C (p.Leu402Pro)	rs767150997
NM_024649.5(BBS1):c.1473+2T>C	rs1856699646
NM_024649.5(BBS1):c.1473+2T>G	rs1856699646
NM_024649.5(BBS1):c.1638C>A (p.Tyr546Ter)	rs1856787758
NM_024649.5(BBS1):c.1682C>G (p.Ser561Ter)	rs1856790811
NM_024649.5(BBS1):c.1713del (p.Gly572fs)	rs1555050487
NM_024649.5(BBS1):c.724-8_726del	rs1856202628

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