List of variants in gene BBS4 studied for Bardet-Biedl syndrome 1

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_033028.5(BBS4):c.77-6G>A	rs8033604	0.94438
NM_033028.5(BBS4):c.76+19G>T	rs4777527	0.94399
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr)	rs2277598	0.52665
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)	rs75295839	0.00687
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)	rs28938468	0.00001
NM_033028.5(BBS4):c.332+8T>C	rs1456405256	0.00001
GRCh37/hg19 15q24.1(chr15:73000552-73006857)x1

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