ClinVar Miner

List of variants in gene BBS5 reported by Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_152384.3(BBS5):c.123del (p.Gly42fs)	rs1272140892
NM_152384.3(BBS5):c.166A>G (p.Arg56Gly)	rs1559121920
NM_152384.3(BBS5):c.550_552dup (p.Asn184_Val185insAsn)	rs2468042346

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