ClinVar Miner

List of variants reported as likely pathogenic for Bardet-Biedl syndrome 7 by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001 0.00010
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg) rs754579374 0.00004
NM_176824.3(BBS7):c.1654dup (p.Thr552fs) rs773052355 0.00003
NM_176824.3(BBS7):c.198T>G (p.Ile66Met) rs367765050 0.00001
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter) rs151275562 0.00001
NM_176824.3(BBS7):c.849+1G>C rs763719688 0.00001
NM_176824.3(BBS7):c.1072C>T (p.Gln358Ter)
NM_176824.3(BBS7):c.1102C>T (p.Gln368Ter)
NM_176824.3(BBS7):c.1306-1_1308del
NM_176824.3(BBS7):c.133dup (p.Met45fs)
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del) rs587777836
NM_176824.3(BBS7):c.165+2T>G
NM_176824.3(BBS7):c.165+2dup
NM_176824.3(BBS7):c.1845C>G (p.Tyr615Ter)
NM_176824.3(BBS7):c.187G>C (p.Gly63Arg)
NM_176824.3(BBS7):c.1986_1988delinsT (p.Lys662fs) rs863224529
NM_176824.3(BBS7):c.328del (p.Ser110fs)
NM_176824.3(BBS7):c.529-2A>G
NM_176824.3(BBS7):c.613_614del (p.Glu205fs)
NM_176824.3(BBS7):c.61_62del (p.Met21fs)
NM_176824.3(BBS7):c.655dup (p.Ile219fs)
NM_176824.3(BBS7):c.906T>A (p.Tyr302Ter)
NM_176824.3(BBS7):c.935-2A>C

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.