ClinVar Miner

List of variants in gene BBS10 reported as pathogenic for Bardet-Biedl syndrome

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Total variants: 148
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HGVS dbSNP gnomAD frequency
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859 0.00004
NM_024685.4(BBS10):c.1244del (p.His415fs) rs760642305 0.00002
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643 0.00002
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer) rs1555202584 0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641 0.00002
NM_024685.4(BBS10):c.687del (p.Val230fs) rs761101213 0.00002
NM_024685.4(BBS10):c.1184dup (p.His395fs) rs786204573 0.00001
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser) rs786204575 0.00001
NM_024685.4(BBS10):c.1804G>C (p.Val602Leu) rs778431173 0.00001
NM_024685.4(BBS10):c.1839T>A (p.Tyr613Ter) rs1951755742 0.00001
NM_024685.4(BBS10):c.340del (p.Gln114fs) rs1191479533 0.00001
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu) rs1555202697 0.00001
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081 0.00001
NC_000012.12:g.(?_76345803)_(76348368_?)del
NM_024685.4(BBS10):c.1016T>A (p.Val339Asp) rs1363498219
NM_024685.4(BBS10):c.1024dup (p.Ile342fs) rs869025210
NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs) rs587777837
NM_024685.4(BBS10):c.1064del (p.Gln355fs) rs1555202654
NM_024685.4(BBS10):c.1068del (p.Ser358fs)
NM_024685.4(BBS10):c.1080_1081del (p.Cys360_Glu361delinsTer) rs2136090624
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1122dup (p.Ile375fs) rs753604828
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter) rs1340165752
NM_024685.4(BBS10):c.1184A>G (p.His395Arg) rs1368733646
NM_024685.4(BBS10):c.1187_1188del (p.Ser396fs) rs1555202636
NM_024685.4(BBS10):c.118A>T (p.Lys40Ter) rs202228478
NM_024685.4(BBS10):c.1225del (p.Gln409fs)
NM_024685.4(BBS10):c.1227del (p.Gln409fs)
NM_024685.4(BBS10):c.1236_1248del (p.Asp412fs) rs1057517156
NM_024685.4(BBS10):c.1249G>A (p.Ala417Thr)
NM_024685.4(BBS10):c.1264del (p.Arg422fs)
NM_024685.4(BBS10):c.1272del (p.Leu424fs)
NM_024685.4(BBS10):c.1290_1293del (p.Asn431fs) rs2136090423
NM_024685.4(BBS10):c.1315del (p.Gln439fs) rs1592491950
NM_024685.4(BBS10):c.1330del (p.Ser444fs) rs2136090382
NM_024685.4(BBS10):c.1335_1338del (p.Tyr448fs) rs1389599028
NM_024685.4(BBS10):c.1338dup (p.Ile447fs)
NM_024685.4(BBS10):c.1341_1344del (p.Tyr448fs)
NM_024685.4(BBS10):c.1365T>G (p.Tyr455Ter) rs778731343
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter) rs759682922
NM_024685.4(BBS10):c.1399del (p.Arg467fs)
NM_024685.4(BBS10):c.1447dup (p.Thr483fs) rs759185809
NM_024685.4(BBS10):c.1448_1452del (p.Thr483fs) rs786204705
NM_024685.4(BBS10):c.1452_1455del (p.Gln484fs) rs1565809597
NM_024685.4(BBS10):c.1453dup (p.Thr485fs) rs2136090243
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter) rs898539189
NM_024685.4(BBS10):c.1510_1511del (p.Ile504fs) rs886043841
NM_024685.4(BBS10):c.1514_1520del (p.Pro505fs) rs1951758972
NM_024685.4(BBS10):c.1527dup (p.Thr510fs)
NM_024685.4(BBS10):c.152dup (p.Gly52fs)
NM_024685.4(BBS10):c.1532dup (p.Thr512fs)
NM_024685.4(BBS10):c.1542del (p.Asp515fs) rs1057517031
NM_024685.4(BBS10):c.1547del (p.Thr516fs) rs869025211
NM_024685.4(BBS10):c.1552C>T (p.Gln518Ter) rs1951758601
NM_024685.4(BBS10):c.1556_1557del (p.Thr519fs) rs2136090126
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs) rs770556842
NM_024685.4(BBS10):c.1603_1606del (p.Asp535fs) rs1951757988
NM_024685.4(BBS10):c.1619T>G (p.Leu540Ter)
NM_024685.4(BBS10):c.1623_1624insGT (p.Lys542fs)
NM_024685.4(BBS10):c.1654G>T (p.Gly552Ter) rs2136090024
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter) rs1565809478
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.1677C>G (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.1701dup (p.Thr568fs)
NM_024685.4(BBS10):c.1702del (p.Thr568fs)
NM_024685.4(BBS10):c.1724del (p.Pro575fs) rs1057516754
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter) rs1565809409
NM_024685.4(BBS10):c.1767C>G (p.Tyr589Ter)
NM_024685.4(BBS10):c.1795_1796del (p.Val599fs)
NM_024685.4(BBS10):c.180dup (p.Glu61fs)
NM_024685.4(BBS10):c.1812dup (p.Asn605Ter)
NM_024685.4(BBS10):c.1814_1815del (p.Asn605fs) rs2136089877
NM_024685.4(BBS10):c.1834del (p.Tyr612fs) rs2136089858
NM_024685.4(BBS10):c.1871C>G (p.Ser624Ter) rs768385647
NM_024685.4(BBS10):c.1892_1896del (p.Met631fs)
NM_024685.4(BBS10):c.1949del (p.Gly650fs) rs769028262
NM_024685.4(BBS10):c.1956C>G (p.Tyr652Ter)
NM_024685.4(BBS10):c.1959del (p.Pro655fs) rs1057516628
NM_024685.4(BBS10):c.197+1G>A rs886042729
NM_024685.4(BBS10):c.197+1G>T rs886042729
NM_024685.4(BBS10):c.1971_1975del (p.Tyr658fs)
NM_024685.4(BBS10):c.198G>T (p.Arg66Ser) rs1565810301
NM_024685.4(BBS10):c.2030del (p.Gly677fs) rs1064796315
NM_024685.4(BBS10):c.2044dup (p.Met682fs) rs2136089682
NM_024685.4(BBS10):c.2052del (p.Lys684fs) rs1951753726
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.2122_2123del (p.Lys708fs) rs1951753208
NM_024685.4(BBS10):c.235del (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.235dup (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.253del (p.Thr85fs)
NM_024685.4(BBS10):c.257_261del (p.Phe86fs) rs1060500996
NM_024685.4(BBS10):c.258del (p.Phe86fs) rs1951773957
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.27_37del (p.Ser10fs) rs1278460471
NM_024685.4(BBS10):c.306_309del (p.Asp102fs) rs745497072
NM_024685.4(BBS10):c.308_312del (p.Arg103fs)
NM_024685.4(BBS10):c.310_311del (p.Glu104fs) rs2136091244
NM_024685.4(BBS10):c.313_314del (p.Lys105fs) rs2136091240
NM_024685.4(BBS10):c.35dup (p.Ala13fs) rs2136091633
NM_024685.4(BBS10):c.360G>A (p.Trp120Ter) rs1951771573
NM_024685.4(BBS10):c.365dup (p.Asn122fs) rs774095109
NM_024685.4(BBS10):c.391C>T (p.Gln131Ter) rs1565810183
NM_024685.4(BBS10):c.391del (p.Gln131fs)
NM_024685.4(BBS10):c.39_46del (p.Ala14fs) rs1555202806
NM_024685.4(BBS10):c.409C>T (p.Gln137Ter) rs2136091166
NM_024685.4(BBS10):c.415C>T (p.Gln139Ter)
NM_024685.4(BBS10):c.439C>T (p.Gln147Ter) rs199998327
NM_024685.4(BBS10):c.445dup (p.Leu149fs) rs770053320
NM_024685.4(BBS10):c.448_449insAGGT (p.Ser150fs)
NM_024685.4(BBS10):c.455_456del (p.His152fs) rs2136091120
NM_024685.4(BBS10):c.466_467del (p.Ile156fs)
NM_024685.4(BBS10):c.467del (p.Ile156fs) rs2136091103
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter) rs553291328
NM_024685.4(BBS10):c.482_497del (p.Lys161fs)
NM_024685.4(BBS10):c.483dup (p.Glu162fs)
NM_024685.4(BBS10):c.490dup (p.Thr164fs) rs2136091086
NM_024685.4(BBS10):c.496dup (p.Cys166fs)
NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys) rs1555202700
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter) rs863224522
NM_024685.4(BBS10):c.559_561del (p.His187del) rs781421232
NM_024685.4(BBS10):c.568_571del (p.Ile190fs) rs1057516266
NM_024685.4(BBS10):c.574C>T (p.Gln192Ter) rs1057517184
NM_024685.4(BBS10):c.578T>C (p.Leu193Ser) rs1951767864
NM_024685.4(BBS10):c.587ACT[1] (p.Tyr197del) rs1318745309
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys) rs756632517
NM_024685.4(BBS10):c.598A>T (p.Lys200Ter) rs1951767589
NM_024685.4(BBS10):c.643_655del (p.Val214_Asp215insTer)
NM_024685.4(BBS10):c.646dup (p.Asp216fs) rs1555202695
NM_024685.4(BBS10):c.692C>G (p.Ser231Ter)
NM_024685.4(BBS10):c.708_711dup (p.Gly238fs)
NM_024685.4(BBS10):c.724del (p.Gln242fs) rs1565809995
NM_024685.4(BBS10):c.725_737del (p.Gln242fs)
NM_024685.4(BBS10):c.728_731del (p.Lys243fs) rs786204671
NM_024685.4(BBS10):c.793C>T (p.Gln265Ter) rs775090151
NM_024685.4(BBS10):c.804_805del (p.Ser269fs) rs1472533012
NM_024685.4(BBS10):c.805dup (p.Ser269fs)
NM_024685.4(BBS10):c.84C>A (p.Cys28Ter) rs1476664656
NM_024685.4(BBS10):c.883A>T (p.Lys295Ter) rs2136090788
NM_024685.4(BBS10):c.894_897dup (p.His300fs)
NM_024685.4(BBS10):c.909_912del (p.Ser303fs) rs780059308
NM_024685.4(BBS10):c.931T>G (p.Ser311Ala) rs137852837
NM_024685.4(BBS10):c.953del (p.Asp317_Leu318insTer) rs2136090739
NM_024685.4(BBS10):c.959_962del (p.Ser320fs) rs758522600
NM_024685.4(BBS10):c.963T>G (p.Tyr321Ter) rs1555202662
NM_024685.4(BBS10):c.999T>A (p.Cys333Ter) rs1565809867
NM_024685.4(BBS10):c.9_10insAT (p.Ser4fs)
NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs) rs2136091654

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