List of variants in gene BBS2 reported 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
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_031885.5(BBS2):c.1413A>C (p.Val471=)	rs35294865	0.01415
NM_031885.5(BBS2):c.805-20A>G	rs41280892	0.00423
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)	rs117033008	0.00250
NM_031885.5(BBS2):c.865A>G (p.Ile289Val)	rs150384293	0.00113
NM_031885.5(BBS2):c.472-10T>C	rs138714256	0.00049
NM_031885.5(BBS2):c.1931dup (p.Tyr644Ter)	rs1963758780

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