ClinVar Miner

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

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Total variants: 44
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HGVS dbSNP
NC_000012.12:g.(?_76345803)_(76348368_?)del
NM_024685.4(BBS10):c.1016T>A (p.Val339Asp)
NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs) rs587777837
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter) rs1340165752
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser) rs786204575
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter) rs759682922
NM_024685.4(BBS10):c.1452_1455del (p.Gln484fs) rs1565809597
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter) rs898539189
NM_024685.4(BBS10):c.1506_1507AT[2] (p.Ile504fs) rs886043841
NM_024685.4(BBS10):c.1514_1520del (p.Pro505fs)
NM_024685.4(BBS10):c.1552C>T (p.Gln518Ter)
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs) rs770556842
NM_024685.4(BBS10):c.1603_1606del (p.Asp535fs)
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter) rs1565809478
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer) rs1555202584
NM_024685.4(BBS10):c.1804G>C (p.Val602Leu)
NM_024685.4(BBS10):c.1949del (p.Gly650fs) rs769028262
NM_024685.4(BBS10):c.1959del (p.Pro655fs) rs1057516628
NM_024685.4(BBS10):c.198G>T (p.Arg66Ser) rs1565810301
NM_024685.4(BBS10):c.2030del (p.Gly677fs) rs1064796315
NM_024685.4(BBS10):c.2052del (p.Lys684fs)
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.257_261del (p.Phe86fs) rs1060500996
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859
NM_024685.4(BBS10):c.360G>A (p.Trp120Ter)
NM_024685.4(BBS10):c.39_46del (p.Ala14fs) rs1555202806
NM_024685.4(BBS10):c.445dup (p.Leu149fs) rs770053320
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter)
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.578T>C (p.Leu193Ser)
NM_024685.4(BBS10):c.598A>T (p.Lys200Ter)
NM_024685.4(BBS10):c.687del (p.Val230fs) rs761101213
NM_024685.4(BBS10):c.724del (p.Gln242fs) rs1565809995
NM_024685.4(BBS10):c.728_731del (p.Lys243fs) rs786204671
NM_024685.4(BBS10):c.766C>T (p.Arg256Ter) rs1156913215
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081
NM_024685.4(BBS10):c.909_912del (p.Ser303fs) rs780059308
NM_024685.4(BBS10):c.999T>A (p.Cys333Ter) rs1565809867

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