List of variants in gene BBS2 reported as benign 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_031885.5(BBS2):c.209G>A (p.Ser70Asn)	rs4784677	0.99534
NM_031885.5(BBS2):c.367A>G (p.Ile123Val)	rs11373	0.20545
NM_031885.5(BBS2):c.613-54C>G	rs4784675	0.16235
NM_031885.5(BBS2):c.-40T>C	rs115078074	0.07623
NM_031885.5(BBS2):c.-42T>G	rs78076550	0.07623
NM_031885.5(BBS2):c.612+12C>A	rs77019529	0.01713
NM_031885.5(BBS2):c.1413A>C (p.Val471=)	rs35294865	0.01415
NM_031885.5(BBS2):c.865A>G (p.Ile289Val)	rs150384293	0.00113
NM_031885.5(BBS2):c.2079G>A (p.Gln693=)	rs150797250	0.00034
NM_031885.5(BBS2):c.744T>C (p.His248=)	rs186893286	0.00004

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