List of variants in gene BBS4 reported by Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University

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_033028.5(BBS4):c.883C>T (p.Arg295Ter)	rs775710800	0.00001
NM_033028.4(BBS4):c.157-?_220+?del
NM_033028.5(BBS4):c.157-3C>G	rs1567412639
NM_033028.5(BBS4):c.220G>A (p.Ala74Thr)	rs2065388358
NM_033028.5(BBS4):c.657del (p.Lys220fs)	rs1567427651
NM_033028.5(BBS4):c.76+1G>T	rs1465437164

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