ClinVar Miner

List of variants in gene BBS10 reported as pathogenic for Bardet-Biedl syndrome 10

Included ClinVar conditions (1):
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Total variants: 52
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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.687del (p.Val230fs) rs761101213 0.00002
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser) rs786204575 0.00001
NM_024685.4(BBS10):c.1407T>G (p.Tyr469Ter) rs1356713858 0.00001
NM_024685.4(BBS10):c.1804G>C (p.Val602Leu) rs778431173 0.00001
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081 0.00001
NM_024685.4(BBS10):c.101G>C (p.Arg34Pro) rs137852836
NM_024685.4(BBS10):c.1024dup (p.Ile342fs) rs869025210
NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs) rs587777837
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1138dup (p.Arg380fs) rs1555202645
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter) rs1340165752
NM_024685.4(BBS10):c.118A>T (p.Lys40Ter) rs202228478
NM_024685.4(BBS10):c.1202G>A (p.Gly401Glu) rs199474722
NM_024685.4(BBS10):c.1315del (p.Gln439fs) rs1592491950
NM_024685.4(BBS10):c.1330dup (p.Ser444fs)
NM_024685.4(BBS10):c.1337_1338del (p.Phe446fs) rs1389599028
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.1495G>T (p.Glu499Ter) rs898539189
NM_024685.4(BBS10):c.1510_1511del (p.Ile504fs) rs886043841
NM_024685.4(BBS10):c.1547del (p.Thr516fs) rs869025211
NM_024685.4(BBS10):c.1555_1564del (p.Thr519fs)
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs) rs770556842
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.1767C>A (p.Tyr589Ter) rs1565809409
NM_024685.4(BBS10):c.180dup (p.Glu61fs)
NM_024685.4(BBS10):c.1856_1865del (p.Lys619fs) rs869025209
NM_024685.4(BBS10):c.1871C>G (p.Ser624Ter) rs768385647
NM_024685.4(BBS10):c.2030del (p.Gly677fs) rs1064796315
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.235dup (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.310_311del (p.Glu104fs) rs2136091244
NM_024685.4(BBS10):c.32T>G (p.Val11Gly) rs137852838
NM_024685.4(BBS10):c.39_46del (p.Ala14fs) rs1555202806
NM_024685.4(BBS10):c.445dup (p.Leu149fs) rs770053320
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter) rs863224522
NM_024685.4(BBS10):c.646dup (p.Asp216fs) rs1555202695
NM_024685.4(BBS10):c.728_731del (p.Lys243fs) rs786204671
NM_024685.4(BBS10):c.805dup (p.Ser269fs)
NM_024685.4(BBS10):c.84C>A (p.Cys28Ter) rs1476664656
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.9_14del (p.Ser3_Met5delinsArg) rs750665609
NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs) rs2136091654

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