ClinVar Miner

List of variants in gene BBS12 reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082 0.00860
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123 0.00511
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser) rs77731085 0.00439
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634 0.00435
NM_152618.3(BBS12):c.1287T>C (p.Ser429=) rs17006094 0.00258
NM_152618.3(BBS12):c.105A>T (p.Ser35=) rs35159397 0.00156
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg) rs139278612 0.00048
NM_152618.3(BBS12):c.1995T>C (p.Val665=) rs771980986 0.00004
NM_152618.3(BBS12):c.1108C>T (p.Leu370=) rs777279530 0.00002
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter) rs1381368546 0.00001
NM_152618.3(BBS12):c.1156C>T (p.Arg386Trp) rs202225266 0.00001
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549 0.00001
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152618.3(BBS12):c.787dup (p.Tyr263fs) rs1553941312
NM_152618.3(BBS12):c.940A>G (p.Arg314Gly) rs749107412

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.