List of variants in gene BBS2 reported as pathogenic by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)	rs121908177	0.00010
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)	rs567573386	0.00001
NM_031885.5(BBS2):c.563del (p.Ile188fs)	rs1367927635	0.00001
NM_031885.5(BBS2):c.565C>T (p.Arg189Ter)	rs1273181642	0.00001
NM_031885.5(BBS2):c.941-2A>C	rs878962682

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