ClinVar Miner

List of variants in gene BBS7 reported as uncertain significance for Bardet-Biedl syndrome 7

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
Download table as spreadsheet
HGVS dbSNP
NM_176824.3(BBS7):c.*1139T>C rs542533305
NM_176824.3(BBS7):c.*1161A>G
NM_176824.3(BBS7):c.*1324G>A rs181687808
NM_176824.3(BBS7):c.*1361A>T
NM_176824.3(BBS7):c.*1526C>T rs546122158
NM_176824.3(BBS7):c.*273T>C rs190252263
NM_176824.3(BBS7):c.*304A>C rs886059052
NM_176824.3(BBS7):c.*353G>A
NM_176824.3(BBS7):c.*513C>T rs577071672
NM_176824.3(BBS7):c.*605G>A rs886059051
NM_176824.3(BBS7):c.*709G>C rs886059050
NM_176824.3(BBS7):c.*724C>T
NM_176824.3(BBS7):c.*828A>G
NM_176824.3(BBS7):c.*996T>C rs886059049
NM_176824.3(BBS7):c.-137A>G
NM_176824.3(BBS7):c.-19G>C rs757523715
NM_176824.3(BBS7):c.-98C>T
NM_176824.3(BBS7):c.1012A>T (p.Met338Leu)
NM_176824.3(BBS7):c.1158A>G (p.Thr386=) rs146617227
NM_176824.3(BBS7):c.11T>C (p.Ile4Thr) rs542274936
NM_176824.3(BBS7):c.1234G>T (p.Asp412Tyr) rs758567781
NM_176824.3(BBS7):c.1235A>G (p.Asp412Gly) rs111442398
NM_176824.3(BBS7):c.1263T>A (p.Asp421Glu)
NM_176824.3(BBS7):c.1306-5C>T
NM_176824.3(BBS7):c.1311C>T (p.Asn437=) rs199812109
NM_176824.3(BBS7):c.1334A>G (p.Tyr445Cys)
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys) rs150743868
NM_176824.3(BBS7):c.1381A>G (p.Ile461Val)
NM_176824.3(BBS7):c.1442G>A (p.Cys481Tyr) rs886059053
NM_176824.3(BBS7):c.1458C>A (p.Tyr486Ter) rs1470030897
NM_176824.3(BBS7):c.1486A>G (p.Arg496Gly)
NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr) rs143700362
NM_176824.3(BBS7):c.171G>A (p.Val57=) rs144525608
NM_176824.3(BBS7):c.1851G>C (p.Leu617Phe)
NM_176824.3(BBS7):c.1890+15C>T
NM_176824.3(BBS7):c.1891-2A>C rs1057519027
NM_176824.3(BBS7):c.1942T>G (p.Cys648Gly) rs201096775
NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser) rs370656021
NM_176824.3(BBS7):c.302T>A (p.Leu101His)
NM_176824.3(BBS7):c.331A>T (p.Ile111Phe)
NM_176824.3(BBS7):c.442A>C (p.Asn148His)
NM_176824.3(BBS7):c.487C>T (p.Pro163Ser) rs370690441
NM_176824.3(BBS7):c.497C>T (p.Ala166Val)
NM_176824.3(BBS7):c.587A>G (p.His196Arg) rs886059054
NM_176824.3(BBS7):c.600C>T (p.Gly200=)
NM_176824.3(BBS7):c.651G>A (p.Ala217=) rs750691939
NM_176824.3(BBS7):c.896A>G (p.Lys299Arg)
NM_176824.3(BBS7):c.917T>C (p.Val306Ala)

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.