ClinVar Miner

List of variants in gene BBS7 studied for Bardet-Biedl syndrome 7

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 74
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.*1202G>A rs3217756
NM_176824.3(BBS7):c.*1286G>A rs1507996
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.*250T>G rs80171619
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.*419T>A rs3762840
NM_176824.3(BBS7):c.*513C>T rs577071672
NM_176824.3(BBS7):c.*605G>A rs886059051
NM_176824.3(BBS7):c.*690T>C rs3217753
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.*932T>G rs3217755
NM_176824.3(BBS7):c.*996T>C rs886059049
NM_176824.3(BBS7):c.-133C>G rs2271176
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.1062_1063del (p.Tyr354_Lys355delinsTer) rs773139166
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.1217_1218del (p.Asn406fs)
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.125G>A (p.Gly42Glu) rs1221499782
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.1471_1472del (p.Leu491fs)
NM_176824.3(BBS7):c.1486A>G (p.Arg496Gly)
NM_176824.3(BBS7):c.1505A>G (p.His502Arg) rs114718913
NM_176824.3(BBS7):c.1512-7A>T rs115987385
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del) rs587777836
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.187G>A (p.Gly63Arg)
NM_176824.3(BBS7):c.1890+15C>T
NM_176824.3(BBS7):c.1891-12C>A rs2706793
NM_176824.3(BBS7):c.1891-2A>C rs1057519027
NM_176824.3(BBS7):c.1942T>G (p.Cys648Gly) rs201096775
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs) rs672601379
NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser) rs370656021
NM_176824.3(BBS7):c.280A>T (p.Thr94Ser) rs202102193
NM_176824.3(BBS7):c.302T>A (p.Leu101His)
NM_176824.3(BBS7):c.331A>T (p.Ile111Phe)
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530
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.500_501insTATGAG (p.Gln168_Asp169insMetSer) rs1578564877
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.709_712del (p.Lys237fs) rs587777812
NM_176824.3(BBS7):c.719G>A (p.Gly240Asp) rs761403504
NM_176824.3(BBS7):c.87_88del (p.His29fs) rs1578577361
NM_176824.3(BBS7):c.880G>C (p.Gly294Arg)
NM_176824.3(BBS7):c.896A>G (p.Lys299Arg)
NM_176824.3(BBS7):c.917T>C (p.Val306Ala)
NM_176824.3(BBS7):c.949C>G (p.Leu317Val) rs869025207
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001

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.