ClinVar Miner

List of variants in gene BBS5 reported as pathogenic for Bardet-Biedl syndrome

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_152384.3(BBS5):c.143-1G>C rs1054138918 0.00004
NM_152384.3(BBS5):c.619-1G>C rs753234582 0.00004
NM_152384.3(BBS5):c.209-2A>G rs1477098739 0.00001
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser) rs121908581 0.00001
NM_152384.3(BBS5):c.265C>T (p.Arg89Ter) rs772757329 0.00001
NM_152384.3(BBS5):c.413G>A (p.Arg138His) rs179363897 0.00001
BBS5, 8-BP DEL/7-BP INS, NT263
NC_000002.11:g.(?_170336064)_(170336142_?)del
NC_000002.11:g.(?_170338741)_(170343664_?)del
NC_000002.11:g.(?_170349364)_(170350366_?)del
NC_000002.11:g.(?_170359585)_(170361092_?)del
NC_000002.12:g.(?_169492874)_(169493836_?)del
NC_000002.12:g.169493742dup
NC_000002.12:g.169504481_169504487del
NM_152384.3(BBS5):c.123del (p.Gly42fs) rs1272140892
NM_152384.3(BBS5):c.143-1G>A rs1054138918
NM_152384.3(BBS5):c.164T>C (p.Leu55Ser) rs2468036514
NM_152384.3(BBS5):c.166A>G (p.Arg56Gly) rs1559121920
NM_152384.3(BBS5):c.177G>A (p.Trp59Ter) rs767221160
NM_152384.3(BBS5):c.198del (p.Val67fs) rs2468036567
NM_152384.3(BBS5):c.204dup (p.Val69fs)
NM_152384.3(BBS5):c.209-1G>A rs1172161975
NM_152384.3(BBS5):c.258+2T>C rs1559122157
NM_152384.3(BBS5):c.303dup (p.Asn102Ter) rs1683515617
NM_152384.3(BBS5):c.406del (p.Met136fs) rs2105297751
NM_152384.3(BBS5):c.420dup (p.Lys141Ter) rs2468041599
NM_152384.3(BBS5):c.425T>A (p.Leu142Ter) rs1574339529
NM_152384.3(BBS5):c.425T>G (p.Leu142Ter) rs1574339529
NM_152384.3(BBS5):c.444del (p.Asn149fs) rs1433293836
NM_152384.3(BBS5):c.520C>T (p.Gln174Ter) rs2105297825
NM_152384.3(BBS5):c.522+3A>G rs587777828
NM_152384.3(BBS5):c.547A>G (p.Thr183Ala) rs121908582
NM_152384.3(BBS5):c.550_552dup (p.Asn184_Val185insAsn) rs2468042346
NM_152384.3(BBS5):c.556_557delinsTA (p.Arg186Ter) rs2468042360
NM_152384.3(BBS5):c.559_560insGA (p.Ile187fs) rs1683644409
NM_152384.3(BBS5):c.562dup (p.Val188fs) rs1244442256
NM_152384.3(BBS5):c.567G>A (p.Trp189Ter) rs1683644662
NM_152384.3(BBS5):c.623C>G (p.Ser208Ter)
NM_152384.3(BBS5):c.655del (p.Ala219fs) rs2105300418
NM_152384.3(BBS5):c.681+1G>T rs2105300442
NM_152384.3(BBS5):c.709del (p.Lys236_Ile237insTer) rs1471916487
NM_152384.3(BBS5):c.808G>T (p.Glu270Ter)
NM_152384.3(BBS5):c.844G>T (p.Glu282Ter) rs759233586
NM_152384.3(BBS5):c.925C>T (p.Gln309Ter) rs2105304338
NM_152384.3(BBS5):c.944_960del (p.Val315fs) rs1285925896
NM_152384.3(BBS5):c.966dup (p.Ala323fs) rs1553529427
NM_152384.3:c.(?_-60)_(386+1_387-1)del

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