List of variants in gene BBS4 reported as benign for Bardet-Biedl syndrome

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: 38

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HGVS	dbSNP	gnomAD frequency
NM_033028.5(BBS4):c.906T>C (p.Phe302=)	rs12914333	0.95849
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.1451-45T>C	rs75847960	0.08550
NM_033028.5(BBS4):c.906= (p.Phe302=)	rs12914333	0.04151
NM_033028.5(BBS4):c.405+17C>T	rs80334351	0.02539
NM_033028.5(BBS4):c.*1G>C	rs113678046	0.01165
NM_033028.5(BBS4):c.712-17C>G	rs150754122	0.01051
NM_033028.5(BBS4):c.180A>G (p.Gln60=)	rs114434361	0.00852
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)	rs75295839	0.00687
NM_033028.5(BBS4):c.1106+20T>C	rs145968663	0.00461
NM_033028.5(BBS4):c.748G>A (p.Gly250Arg)	rs34620165	0.00458
NM_033028.5(BBS4):c.332+27dup	rs558055315	0.00243
NM_033028.5(BBS4):c.37C>T (p.Pro13Ser)	rs151164191	0.00134
NM_033028.5(BBS4):c.1049A>G (p.Asn350Ser)	rs150395094	0.00096
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp)	rs147202164	0.00063
NM_033028.5(BBS4):c.460-20T>C	rs200203402	0.00048
NM_033028.5(BBS4):c.24+8C>T	rs200055760	0.00040
NM_033028.5(BBS4):c.459+14G>C	rs200810799	0.00024
NM_033028.5(BBS4):c.1107-14T>G	rs185052338	0.00022
NM_033028.5(BBS4):c.1440G>A (p.Thr480=)	rs148682268	0.00017
NM_033028.5(BBS4):c.1215C>G (p.Leu405=)	rs3759869	0.00015
NM_033028.5(BBS4):c.17T>C (p.Val6Ala)	rs113994185	0.00001
NM_033028.5(BBS4):c.18C>T (p.Val6=)	rs113994187	0.00001
NM_033028.5(BBS4):c.20C>T (p.Ala7Val)	rs113994186	0.00001
NM_033028.5(BBS4):c.42A>G (p.Val14=)	rs113994181	0.00001
NM_033028.5(BBS4):c.91A>G (p.Ile31Val)	rs113994182	0.00001
NM_033028.5(BBS4):c.-17C>A	rs56368716
NM_033028.5(BBS4):c.-6G>A	rs367543011
NM_033028.5(BBS4):c.1223_1225dup (p.Asn408dup)	rs752690768
NM_033028.5(BBS4):c.1451-14del
NM_033028.5(BBS4):c.24+9C>T
NM_033028.5(BBS4):c.28dup (p.Thr10fs)	rs113994184
NM_033028.5(BBS4):c.406-11del
NM_033028.5(BBS4):c.864+12del
NM_033028.5(BBS4):c.864+12dup	rs1476015172
NM_033028.5(BBS4):c.8A>C (p.Glu3Ala)	rs113994183

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