ClinVar Miner

List of variants in gene BBS7 reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_176824.3(BBS7):c.1891-12C>A rs2706793 0.79185
NM_176824.3(BBS7):c.1890+16G>A rs1507994 0.40768
NM_176824.3(BBS7):c.166-45C>T rs56159666 0.26920
NM_176824.3(BBS7):c.934+32A>G rs6824258 0.26226
NM_176824.3(BBS7):c.1511+25C>A rs55803709 0.08939
NM_176824.3(BBS7):c.186C>T (p.Pro62=) rs35194418 0.00662
NM_176824.3(BBS7):c.171G>A (p.Val57=) rs144525608 0.00060
NM_176824.3(BBS7):c.1890+9_1890+10del rs772355304 0.00041
NM_176824.3(BBS7):c.223A>G (p.Ile75Val) rs138872188 0.00039
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys) rs150743868 0.00025
NM_176824.3(BBS7):c.1263T>A (p.Asp421Glu) rs146412602 0.00023
NM_176824.3(BBS7):c.1097C>T (p.Ser366Phe) rs200373010 0.00020
NM_176824.3(BBS7):c.123T>C (p.Asp41=) rs148011561 0.00013
NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser) rs370656021 0.00011
NM_176824.3(BBS7):c.718+9T>C rs374523374 0.00011
NM_176824.3(BBS7):c.917T>C (p.Val306Ala) rs373378747 0.00011
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001 0.00010
NM_176824.3(BBS7):c.1381A>G (p.Ile461Val) rs141224967 0.00009
NM_176824.3(BBS7):c.839G>A (p.Arg280Gln) rs749970544 0.00009
NM_176824.3(BBS7):c.864C>T (p.Ser288=) rs142376157 0.00008
NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr) rs143700362 0.00006
NM_176824.3(BBS7):c.683G>A (p.Arg228His) rs369866009 0.00006
NM_176824.3(BBS7):c.654T>C (p.Leu218=) rs377333596 0.00005
NM_176824.3(BBS7):c.601+3A>G rs747555346 0.00004
NM_176824.3(BBS7):c.865G>A (p.Val289Ile) rs200770952 0.00004
NM_176824.3(BBS7):c.789C>T (p.Asp263=) rs140478463 0.00003
NM_176824.3(BBS7):c.1337G>A (p.Arg446Gln) rs372685495 0.00002
NM_176824.3(BBS7):c.508A>G (p.Arg170Gly) rs199891330 0.00002
NM_176824.3(BBS7):c.1056G>A (p.Leu352=) rs377163503 0.00001
NM_176824.3(BBS7):c.1184G>A (p.Ser395Asn) rs889491713 0.00001
NM_176824.3(BBS7):c.1442G>A (p.Cys481Tyr) rs886059053 0.00001
NM_176824.3(BBS7):c.189G>T (p.Gly63=) rs541833400 0.00001
NM_176824.3(BBS7):c.1917G>A (p.Thr639=) rs770239209 0.00001
NM_176824.3(BBS7):c.213G>A (p.Leu71=) rs778509860 0.00001
NM_176824.3(BBS7):c.286A>C (p.Arg96=) rs754438760 0.00001
NM_176824.3(BBS7):c.876C>A (p.Ile292=) rs369319119 0.00001
NM_176824.3(BBS7):c.895A>G (p.Lys299Glu) rs1275186434 0.00001
NM_176824.3(BBS7):c.1037+5C>T rs749266895
NM_176824.3(BBS7):c.1231-3T>C rs1725872645
NM_176824.3(BBS7):c.1306-1_1308del
NM_176824.3(BBS7):c.1354A>G (p.Thr452Ala)
NM_176824.3(BBS7):c.1451G>A (p.Arg484His) rs200720761
NM_176824.3(BBS7):c.166-4dup
NM_176824.3(BBS7):c.1764A>G (p.Lys588=)
NM_176824.3(BBS7):c.1786+10_1786+13del
NM_176824.3(BBS7):c.1904A>G (p.His635Arg)
NM_176824.3(BBS7):c.1979A>G (p.Tyr660Cys) rs757308523
NM_176824.3(BBS7):c.2046T>C (p.Phe682=) rs753884144
NM_176824.3(BBS7):c.227A>G (p.Asn76Ser)
NM_176824.3(BBS7):c.302T>A (p.Leu101His) rs760863058
NM_176824.3(BBS7):c.340A>C (p.Met114Leu) rs142305911
NM_176824.3(BBS7):c.529-7_529-5del rs758828904
NM_176824.3(BBS7):c.567C>T (p.Pro189=) rs567185907
NM_176824.3(BBS7):c.600C>T (p.Gly200=) rs370053625
NM_176824.3(BBS7):c.601+1G>A
NM_176824.3(BBS7):c.661A>T (p.Ile221Phe)
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
NM_176824.3(BBS7):c.934+10A>G
NM_176824.3(BBS7):c.934+31_934+34del rs111713350

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.