List of variants in gene BBS1 reported as pathogenic for inborn disorder of amino acid metabolism

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_024649.5(BBS1):c.479G>A (p.Arg160Gln)	rs376894444	0.00003
NM_024649.5(BBS1):c.41C>G (p.Ala14Gly)	rs774110999

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