List of variants in gene BBS2 reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)	rs567573386	0.00001
NM_031885.5(BBS2):c.1166_1169del (p.Val389fs)	rs1964269329
NM_031885.5(BBS2):c.1206dup (p.Arg403fs)	rs1964267396
NM_031885.5(BBS2):c.1371del (p.Lys458fs)	rs2144143132
NM_031885.5(BBS2):c.1770del (p.Phe590fs)	rs193922711
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs)	rs1555521379
NM_031885.5(BBS2):c.402del (p.Ala136fs)	rs1368647604
NM_031885.5(BBS2):c.627_628del (p.Cys210fs)	rs773417074

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