ClinVar Miner

List of variants in gene BBS9 reported by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892 0.00979
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724 0.00599
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072 0.00392
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067 0.00375
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299 0.00219
NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn) rs149362446 0.00081
NM_198428.3(BBS9):c.2214C>T (p.Ile738=) rs148536971 0.00071
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe) rs61753526 0.00053
NM_198428.3(BBS9):c.1918A>G (p.Ile640Val) rs144112103 0.00034
NM_198428.3(BBS9):c.771A>G (p.Ala257=) rs145007686 0.00021
NM_198428.3(BBS9):c.1768G>A (p.Val590Ile) rs143016114 0.00008
NM_198428.3(BBS9):c.2403A>G (p.Ile801Met) rs137993290 0.00006
NM_198428.3(BBS9):c.1167del (p.Ile391fs) rs886042258
NM_198428.3(BBS9):c.1308T>C (p.Leu436=) rs886043248
NM_198428.3(BBS9):c.1789+1G>A rs201938124
NM_198428.3(BBS9):c.329-7dup rs753552530
NM_198428.3(BBS9):c.801_803del (p.Phe269del) rs780367770
Single allele

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.