List of variants in gene BBS9 reported as pathogenic for not provided

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_198428.3(BBS9):c.190C>T (p.Gln64Ter)	rs769256027	0.00003
NM_198428.3(BBS9):c.1120C>T (p.Arg374Ter)	rs998200637	0.00001
NM_198428.3(BBS9):c.1693+1G>A	rs1295000119	0.00001
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter)	rs767005321	0.00001
GRCh37/hg19 7p14.3(chr7:33191099-33257303)x1
GRCh37/hg19 7p14.3(chr7:33431363-33552840)x1
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter)	rs137852858
NM_198428.3(BBS9):c.1167del (p.Ile391fs)	rs886042258
NM_198428.3(BBS9):c.1468del (p.Tyr490fs)	rs1454474832
NM_198428.3(BBS9):c.1540C>T (p.Arg514Ter)	rs1401715737
NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter)	rs746797123
NM_198428.3(BBS9):c.1789+1G>A	rs201938124
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)	rs606231137
NM_198428.3(BBS9):c.1962_1963insAAATTATTCATTGGAG (p.Leu655fs)	rs1825528981

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.