ClinVar Miner

List of variants in gene BBS10 studied for Bardet-Biedl syndrome

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Total variants: 146
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HGVS dbSNP
NC_000012.12:g.(?_76345803)_(76348368_?)del
NM_024685.4(BBS10):c.*1189dup rs886049840
NM_024685.4(BBS10):c.*1241_*1244del rs886049838
NM_024685.4(BBS10):c.*177T>G rs189856910
NM_024685.4(BBS10):c.*641_*642AT[2] rs886049845
NM_024685.4(BBS10):c.-66C>T rs886049854
NM_024685.4(BBS10):c.-71C>T rs569445445
NM_024685.4(BBS10):c.1010_1012AAG[1] (p.Glu338del)
NM_024685.4(BBS10):c.1016T>A (p.Val339Asp)
NM_024685.4(BBS10):c.1025T>C (p.Ile342Thr)
NM_024685.4(BBS10):c.102G>T (p.Arg34=) rs376601112
NM_024685.4(BBS10):c.1041T>C (p.Gly347=) rs747390360
NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs) rs587777837
NM_024685.4(BBS10):c.1050A>G (p.Pro350=) rs370953693
NM_024685.4(BBS10):c.1074G>A (p.Ser358=) rs551803123
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1112G>C (p.Cys371Ser)
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter) rs1340165752
NM_024685.4(BBS10):c.1144G>C (p.Val382Leu) rs775492103
NM_024685.4(BBS10):c.1144G>T (p.Val382Phe) rs775492103
NM_024685.4(BBS10):c.1154G>A (p.Gly385Asp)
NM_024685.4(BBS10):c.1158G>A (p.Leu386=) rs138702315
NM_024685.4(BBS10):c.1184A>G (p.His395Arg)
NM_024685.4(BBS10):c.1184dup (p.His395fs) rs786204573
NM_024685.4(BBS10):c.1185C>G (p.His395Gln) rs863224793
NM_024685.4(BBS10):c.1211A>G (p.His404Arg)
NM_024685.4(BBS10):c.1228C>T (p.His410Tyr)
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser) rs786204575
NM_024685.4(BBS10):c.1245T>C (p.His415=) rs147241753
NM_024685.4(BBS10):c.1250C>T (p.Ala417Val) rs537219462
NM_024685.4(BBS10):c.1258A>C (p.Met420Leu)
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln) rs138961848
NM_024685.4(BBS10):c.1276A>G (p.Lys426Glu) rs149596527
NM_024685.4(BBS10):c.1287T>C (p.Asp429=) rs771468663
NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile) rs199878555
NM_024685.4(BBS10):c.136C>T (p.Leu46Phe)
NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter) rs759682922
NM_024685.4(BBS10):c.1400G>A (p.Arg467Lys)
NM_024685.4(BBS10):c.1412A>T (p.Asp471Val) rs200718870
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu) rs138434761
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.147G>A (p.Arg49=) rs1592493118
NM_024685.4(BBS10):c.1490A>T (p.Asp497Val) rs753629989
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.1545T>C (p.Asp515=) rs77565309
NM_024685.4(BBS10):c.1548A>T (p.Thr516=) rs771662934
NM_024685.4(BBS10):c.1552C>T (p.Gln518Ter)
NM_024685.4(BBS10):c.1566G>A (p.Thr522=) rs1200334802
NM_024685.4(BBS10):c.1588A>G (p.Arg530Gly)
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser) rs146812823
NM_024685.4(BBS10):c.1595G>A (p.Arg532Lys)
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs) rs770556842
NM_024685.4(BBS10):c.1603_1606del (p.Asp535fs)
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114
NM_024685.4(BBS10):c.1617A>G (p.Pro539=) rs150467742
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974
NM_024685.4(BBS10):c.1640C>A (p.Ala547Asp)
NM_024685.4(BBS10):c.1669A>G (p.Ile557Val) rs139719799
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.1678G>A (p.Glu560Lys)
NM_024685.4(BBS10):c.1700T>C (p.Ile567Thr)
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925
NM_024685.4(BBS10):c.1742C>T (p.Pro581Leu)
NM_024685.4(BBS10):c.1743G>A (p.Pro581=) rs150530553
NM_024685.4(BBS10):c.1776A>G (p.Ser592=) rs549089224
NM_024685.4(BBS10):c.1804G>C (p.Val602Leu)
NM_024685.4(BBS10):c.1837T>C (p.Tyr613His)
NM_024685.4(BBS10):c.1871C>T (p.Ser624Leu)
NM_024685.4(BBS10):c.1918A>G (p.Ile640Val) rs748647079
NM_024685.4(BBS10):c.1941T>G (p.Ser647=) rs749965019
NM_024685.4(BBS10):c.1949del (p.Gly650fs) rs769028262
NM_024685.4(BBS10):c.1959del (p.Pro655fs) rs1057516628
NM_024685.4(BBS10):c.1969A>G (p.Thr657Ala)
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu) rs771355732
NM_024685.4(BBS10):c.198-10T>C rs376497190
NM_024685.4(BBS10):c.198-3C>T
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.2091A>C (p.Lys697Asn)
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.2142T>G (p.Val714=) rs1463359253
NM_024685.4(BBS10):c.2156C>G (p.Ser719Ter)
NM_024685.4(BBS10):c.226C>T (p.Leu76Phe)
NM_024685.4(BBS10):c.235dup (p.Thr79fs) rs760693838
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.344C>T (p.Thr115Ile)
NM_024685.4(BBS10):c.350G>C (p.Gly117Ala)
NM_024685.4(BBS10):c.360G>A (p.Trp120Ter)
NM_024685.4(BBS10):c.372T>A (p.Ser124=) rs143366878
NM_024685.4(BBS10):c.375G>A (p.Arg125=) rs376030299
NM_024685.4(BBS10):c.380A>G (p.Lys127Arg)
NM_024685.4(BBS10):c.383T>C (p.Phe128Ser) rs1592492746
NM_024685.4(BBS10):c.397C>T (p.Leu133Phe)
NM_024685.4(BBS10):c.39_46del (p.Ala14fs) rs1555202806
NM_024685.4(BBS10):c.406T>C (p.Phe136Leu)
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601
NM_024685.4(BBS10):c.429T>C (p.Gly143=) rs146587757
NM_024685.4(BBS10):c.42G>A (p.Ala14=) rs373458861
NM_024685.4(BBS10):c.434T>C (p.Met145Thr)
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg) rs140585012
NM_024685.4(BBS10):c.445dup (p.Leu149fs) rs770053320
NM_024685.4(BBS10):c.462G>A (p.Leu154=) rs764687344
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter)
NM_024685.4(BBS10):c.474G>A (p.Ser158=) rs375436323
NM_024685.4(BBS10):c.474G>T (p.Ser158=) rs375436323
NM_024685.4(BBS10):c.483A>G (p.Lys161=) rs748732850
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.55G>C (p.Glu19Gln) rs1001512051
NM_024685.4(BBS10):c.578T>C (p.Leu193Ser)
NM_024685.4(BBS10):c.583T>G (p.Cys195Gly)
NM_024685.4(BBS10):c.587ACT[1] (p.Tyr197del)
NM_024685.4(BBS10):c.598A>T (p.Lys200Ter)
NM_024685.4(BBS10):c.607A>G (p.Thr203Ala) rs753138845
NM_024685.4(BBS10):c.625G>T (p.Gly209Cys)
NM_024685.4(BBS10):c.637T>C (p.Leu213=) rs367795705
NM_024685.4(BBS10):c.646dup (p.Asp216fs) rs1555202695
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.752C>T (p.Ala251Val) rs149760791
NM_024685.4(BBS10):c.763A>G (p.Met255Val)
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279
NM_024685.4(BBS10):c.766C>T (p.Arg256Ter) rs1156913215
NM_024685.4(BBS10):c.783A>G (p.Thr261=) rs768475584
NM_024685.4(BBS10):c.815G>C (p.Gly272Ala)
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081
NM_024685.4(BBS10):c.861A>G (p.Gln287=) rs753223078
NM_024685.4(BBS10):c.886G>A (p.Ala296Thr) rs150587582
NM_024685.4(BBS10):c.908G>C (p.Ser303Thr)
NM_024685.4(BBS10):c.909_912del (p.Ser303fs) rs780059308
NM_024685.4(BBS10):c.92C>T (p.Pro31Leu)
NM_024685.4(BBS10):c.934A>G (p.Ser312Gly)
NM_024685.4(BBS10):c.957T>C (p.Val319=) rs139645096
NM_024685.4(BBS10):c.962A>G (p.Tyr321Cys) rs771325212
NM_024685.4(BBS10):c.966T>C (p.Tyr322=) rs139053702
NM_024685.4(BBS10):c.999T>A (p.Cys333Ter) rs1565809867

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