ClinVar Miner

List of variants in gene combination BBS1, ZDHHC24 reported by Ocular Genomics Institute, Massachusetts Eye and Ear

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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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.1514_1515del (p.Leu505fs)	rs775769424	0.00001

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