ClinVar Miner

List of variants in gene BBS10 reported as pathogenic by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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_024685.4(BBS10):c.164T>C (p.Leu55Pro)	rs1460517643	0.00002
NM_024685.4(BBS10):c.271dup (p.Cys91fs)	rs549625604

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