List of variants in gene combination BBS1, ZDHHC24 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_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00212
NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter)	rs1160669210	0.00001
NM_024649.5(BBS1):c.1473+4A>G	rs1486200900	0.00001
NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg)	rs1565287512
NM_024649.5(BBS1):c.1694A>G (p.Lys565Arg)	rs1565291081
NM_024649.5(BBS1):c.951+1G>A	rs746875134

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