ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 300
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HGVS dbSNP gnomAD frequency
NM_024685.4(BBS10):c.1669A>G (p.Ile557Val) rs139719799 0.00167
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925 0.00159
NM_024685.4(BBS10):c.1245T>C (p.His415=) rs147241753 0.00130
NM_024685.4(BBS10):c.957T>C (p.Val319=) rs139645096 0.00039
NM_024685.4(BBS10):c.474G>T (p.Ser158=) rs375436323 0.00032
NM_024685.4(BBS10):c.1923C>T (p.Pro641=) rs201449351 0.00015
NM_024685.4(BBS10):c.1050A>G (p.Pro350=) rs370953693 0.00014
NM_024685.4(BBS10):c.372T>A (p.Ser124=) rs143366878 0.00014
NM_024685.4(BBS10):c.102G>T (p.Arg34=) rs376601112 0.00013
NM_024685.4(BBS10):c.27G>T (p.Gly9=) rs370213920 0.00012
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser) rs146812823 0.00010
NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile) rs199878555 0.00009
NM_024685.4(BBS10):c.1629C>T (p.Asn543=) rs145124702 0.00008
NM_024685.4(BBS10):c.375G>A (p.Arg125=) rs376030299 0.00007
NM_024685.4(BBS10):c.1188T>C (p.Ser396=) rs143903199 0.00006
NM_024685.4(BBS10):c.429T>C (p.Gly143=) rs146587757 0.00006
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg) rs140585012 0.00006
NM_024685.4(BBS10):c.1617A>G (p.Pro539=) rs150467742 0.00005
NM_024685.4(BBS10):c.42G>A (p.Ala14=) rs373458861 0.00005
NM_024685.4(BBS10):c.1412A>T (p.Asp471Val) rs200718870 0.00004
NM_024685.4(BBS10):c.1548A>T (p.Thr516=) rs771662934 0.00004
NM_024685.4(BBS10):c.163C>T (p.Leu55=) rs887761680 0.00004
NM_024685.4(BBS10):c.197+13C>G rs758349250 0.00004
NM_024685.4(BBS10):c.936T>C (p.Ser312=) rs142630760 0.00004
NM_024685.4(BBS10):c.1287T>C (p.Asp429=) rs771468663 0.00003
NM_024685.4(BBS10):c.1743G>A (p.Pro581=) rs150530553 0.00003
NM_024685.4(BBS10):c.197+11C>A rs766419844 0.00003
NM_024685.4(BBS10):c.198-19T>A rs368334772 0.00003
NM_024685.4(BBS10):c.462G>A (p.Leu154=) rs764687344 0.00003
NM_024685.4(BBS10):c.756T>C (p.Asp252=) rs762540567 0.00003
NM_024685.4(BBS10):c.1041T>C (p.Gly347=) rs747390360 0.00002
NM_024685.4(BBS10):c.1164C>T (p.Ser388=) rs1484593364 0.00002
NM_024685.4(BBS10):c.1215T>G (p.Gly405=) rs751592378 0.00002
NM_024685.4(BBS10):c.1437A>G (p.Ala479=) rs201701959 0.00002
NM_024685.4(BBS10):c.1438T>C (p.Leu480=) rs746529935 0.00002
NM_024685.4(BBS10):c.1527C>G (p.Pro509=) rs762271852 0.00002
NM_024685.4(BBS10):c.1572A>G (p.Thr524=) rs1271927802 0.00002
NM_024685.4(BBS10):c.198-10T>C rs376497190 0.00002
NM_024685.4(BBS10):c.402A>G (p.Leu134=) rs762331843 0.00002
NM_024685.4(BBS10):c.637T>C (p.Leu213=) rs367795705 0.00002
NM_024685.4(BBS10):c.63G>A (p.Leu21=) rs779366264 0.00002
NM_024685.4(BBS10):c.861A>G (p.Gln287=) rs753223078 0.00002
NM_024685.4(BBS10):c.1134C>T (p.Ser378=) rs764371181 0.00001
NM_024685.4(BBS10):c.1197T>C (p.Leu399=) rs974452621 0.00001
NM_024685.4(BBS10):c.1218C>G (p.Leu406=) rs758194221 0.00001
NM_024685.4(BBS10):c.1401G>A (p.Arg467=) rs1951760279 0.00001
NM_024685.4(BBS10):c.1416A>G (p.Thr472=) rs1345667368 0.00001
NM_024685.4(BBS10):c.144C>T (p.Ser48=) rs1354665984 0.00001
NM_024685.4(BBS10):c.1477T>C (p.Leu493=) rs543722869 0.00001
NM_024685.4(BBS10):c.1506A>G (p.Thr502=) rs201022680 0.00001
NM_024685.4(BBS10):c.1593C>T (p.Asn531=) rs780123311 0.00001
NM_024685.4(BBS10):c.1776A>G (p.Ser592=) rs549089224 0.00001
NM_024685.4(BBS10):c.1866T>C (p.His622=) rs1167846126 0.00001
NM_024685.4(BBS10):c.1959C>T (p.Ser653=) rs764088306 0.00001
NM_024685.4(BBS10):c.1974T>C (p.Tyr658=) rs376613074 0.00001
NM_024685.4(BBS10):c.1978A>C (p.Arg660=) rs145838463 0.00001
NM_024685.4(BBS10):c.198-4A>G rs1292242567 0.00001
NM_024685.4(BBS10):c.1992A>G (p.Ala664=) rs758730453 0.00001
NM_024685.4(BBS10):c.2070A>G (p.Ser690=) rs750972045 0.00001
NM_024685.4(BBS10):c.2142T>G (p.Val714=) rs1463359253 0.00001
NM_024685.4(BBS10):c.2166A>G (p.Glu722=) rs747553162 0.00001
NM_024685.4(BBS10):c.2169A>G (p.Leu723=) rs1395342080 0.00001
NM_024685.4(BBS10):c.237A>G (p.Thr79=) rs774437650 0.00001
NM_024685.4(BBS10):c.270T>G (p.Leu90=) rs200390697 0.00001
NM_024685.4(BBS10):c.393G>A (p.Gln131=) rs369066076 0.00001
NM_024685.4(BBS10):c.450T>C (p.Ser150=) rs573346325 0.00001
NM_024685.4(BBS10):c.483A>G (p.Lys161=) rs748732850 0.00001
NM_024685.4(BBS10):c.607A>G (p.Thr203Ala) rs753138845 0.00001
NM_024685.4(BBS10):c.630A>T (p.Val210=) rs759791957 0.00001
NM_024685.4(BBS10):c.661T>C (p.Leu221=) rs768544411 0.00001
NM_024685.4(BBS10):c.681C>T (p.Gly227=) rs886049851 0.00001
NM_024685.4(BBS10):c.6A>G (p.Leu2=) rs1333383849 0.00001
NM_024685.4(BBS10):c.753A>G (p.Ala251=) rs766065990 0.00001
NM_024685.4(BBS10):c.783A>G (p.Thr261=) rs768475584 0.00001
NM_024685.4(BBS10):c.840A>G (p.Glu280=) rs751973161 0.00001
NM_024685.4(BBS10):c.942A>G (p.Lys314=) rs748249273 0.00001
NM_024685.4(BBS10):c.996G>A (p.Glu332=) rs756848031 0.00001
NM_024685.4(BBS10):c.1005A>G (p.Ser335=)
NM_024685.4(BBS10):c.1014A>G (p.Glu338=) rs2136090679
NM_024685.4(BBS10):c.1026C>T (p.Ile342=) rs2136090671
NM_024685.4(BBS10):c.1035C>T (p.Ile345=)
NM_024685.4(BBS10):c.1038T>C (p.Ile346=)
NM_024685.4(BBS10):c.1041T>G (p.Gly347=)
NM_024685.4(BBS10):c.1059A>G (p.Pro353=) rs2136090643
NM_024685.4(BBS10):c.1059A>T (p.Pro353=) rs2136090643
NM_024685.4(BBS10):c.105A>G (p.Gln35=)
NM_024685.4(BBS10):c.1074G>T (p.Ser358=) rs551803123
NM_024685.4(BBS10):c.1077G>A (p.Gln359=) rs2136090625
NM_024685.4(BBS10):c.1092C>T (p.Asn364=) rs1951763479
NM_024685.4(BBS10):c.1095T>C (p.Thr365=)
NM_024685.4(BBS10):c.1101G>A (p.Leu367=)
NM_024685.4(BBS10):c.1125C>T (p.Ile375=) rs762785764
NM_024685.4(BBS10):c.1143T>C (p.Tyr381=) rs1340165752
NM_024685.4(BBS10):c.1149T>C (p.His383=)
NM_024685.4(BBS10):c.1158G>A (p.Leu386=) rs138702315
NM_024685.4(BBS10):c.1167A>G (p.Thr389=)
NM_024685.4(BBS10):c.1170T>C (p.Cys390=)
NM_024685.4(BBS10):c.1173A>G (p.Ala391=)
NM_024685.4(BBS10):c.1185C>T (p.His395=) rs863224793
NM_024685.4(BBS10):c.1188T>G (p.Ser396=) rs143903199
NM_024685.4(BBS10):c.1197T>A (p.Leu399=) rs974452621
NM_024685.4(BBS10):c.1218C>T (p.Leu406=) rs758194221
NM_024685.4(BBS10):c.1224A>G (p.Glu408=)
NM_024685.4(BBS10):c.1236T>C (p.Asp412=) rs2136090480
NM_024685.4(BBS10):c.1248A>G (p.Gly416=) rs2136090464
NM_024685.4(BBS10):c.1254T>C (p.Leu418=) rs920762954
NM_024685.4(BBS10):c.1257A>G (p.Lys419=)
NM_024685.4(BBS10):c.1269A>G (p.Gln423=)
NM_024685.4(BBS10):c.126T>G (p.Thr42=) rs1467112927
NM_024685.4(BBS10):c.1278A>G (p.Lys426=)
NM_024685.4(BBS10):c.1284T>A (p.Leu428=) rs1382756940
NM_024685.4(BBS10):c.1293T>C (p.Asn431=)
NM_024685.4(BBS10):c.1296C>T (p.Tyr432=)
NM_024685.4(BBS10):c.129C>A (p.Gly43=) rs2136091554
NM_024685.4(BBS10):c.12T>C (p.Ser4=)
NM_024685.4(BBS10):c.1308C>G (p.Thr436=)
NM_024685.4(BBS10):c.1314C>T (p.Asp438=) rs2136090402
NM_024685.4(BBS10):c.1317A>G (p.Gln439=)
NM_024685.4(BBS10):c.1320T>C (p.Asn440=) rs2136090393
NM_024685.4(BBS10):c.1329A>G (p.Ser443=)
NM_024685.4(BBS10):c.1338T>C (p.Phe446=) rs941842098
NM_024685.4(BBS10):c.135G>C (p.Val45=)
NM_024685.4(BBS10):c.1365T>C (p.Tyr455=) rs778731343
NM_024685.4(BBS10):c.1374A>G (p.Pro458=) rs778415408
NM_024685.4(BBS10):c.1383T>A (p.Gly461=)
NM_024685.4(BBS10):c.1383T>C (p.Gly461=) rs903725118
NM_024685.4(BBS10):c.138T>C (p.Leu46=) rs2136091543
NM_024685.4(BBS10):c.1392A>G (p.Ser464=)
NM_024685.4(BBS10):c.1395A>C (p.Ile465=) rs2136090313
NM_024685.4(BBS10):c.1416A>C (p.Thr472=) rs1345667368
NM_024685.4(BBS10):c.1455A>T (p.Thr485=) rs1951759523
NM_024685.4(BBS10):c.147G>A (p.Arg49=) rs1592493118
NM_024685.4(BBS10):c.147G>T (p.Arg49=)
NM_024685.4(BBS10):c.1494A>G (p.Val498=) rs1048483339
NM_024685.4(BBS10):c.1509T>C (p.Tyr503=) rs1951759072
NM_024685.4(BBS10):c.1515G>A (p.Pro505=) rs762917447
NM_024685.4(BBS10):c.1515G>C (p.Pro505=)
NM_024685.4(BBS10):c.1515G>T (p.Pro505=) rs762917447
NM_024685.4(BBS10):c.1527C>T (p.Pro509=) rs762271852
NM_024685.4(BBS10):c.1531C>T (p.Leu511=) rs2136090156
NM_024685.4(BBS10):c.1542A>C (p.Thr514=)
NM_024685.4(BBS10):c.1548A>C (p.Thr516=)
NM_024685.4(BBS10):c.1557A>G (p.Thr519=) rs2136090123
NM_024685.4(BBS10):c.1566G>A (p.Thr522=) rs1200334802
NM_024685.4(BBS10):c.156C>A (p.Gly52=) rs760758205
NM_024685.4(BBS10):c.156C>T (p.Gly52=) rs760758205
NM_024685.4(BBS10):c.1572A>C (p.Thr524=) rs1271927802
NM_024685.4(BBS10):c.1572A>T (p.Thr524=)
NM_024685.4(BBS10):c.1582T>C (p.Leu528=)
NM_024685.4(BBS10):c.1599A>G (p.Leu533=)
NM_024685.4(BBS10):c.1602T>G (p.Thr534=) rs750402316
NM_024685.4(BBS10):c.1618T>C (p.Leu540=)
NM_024685.4(BBS10):c.1620A>G (p.Leu540=) rs1592491670
NM_024685.4(BBS10):c.1623C>G (p.Leu541=) rs2136090043
NM_024685.4(BBS10):c.1623C>T (p.Leu541=)
NM_024685.4(BBS10):c.162C>T (p.Leu54=)
NM_024685.4(BBS10):c.1641T>A (p.Ala547=)
NM_024685.4(BBS10):c.1641T>G (p.Ala547=) rs2136090029
NM_024685.4(BBS10):c.1656A>C (p.Gly552=) rs2136090019
NM_024685.4(BBS10):c.165G>A (p.Leu55=)
NM_024685.4(BBS10):c.1677C>T (p.Tyr559=) rs375413604
NM_024685.4(BBS10):c.1683T>C (p.Asn561=)
NM_024685.4(BBS10):c.1684T>C (p.Leu562=) rs111773727
NM_024685.4(BBS10):c.1686A>G (p.Leu562=)
NM_024685.4(BBS10):c.168G>A (p.Glu56=)
NM_024685.4(BBS10):c.1695A>G (p.Thr565=) rs1361225928
NM_024685.4(BBS10):c.1698T>C (p.Asn566=)
NM_024685.4(BBS10):c.1704T>C (p.Thr568=)
NM_024685.4(BBS10):c.1716C>T (p.Ser572=)
NM_024685.4(BBS10):c.171G>A (p.Ala57=)
NM_024685.4(BBS10):c.171G>C (p.Ala57=)
NM_024685.4(BBS10):c.1725A>C (p.Pro575=)
NM_024685.4(BBS10):c.1740A>G (p.Leu580=) rs2136089948
NM_024685.4(BBS10):c.174A>G (p.Leu58=) rs2136091515
NM_024685.4(BBS10):c.1773C>G (p.Ser591=)
NM_024685.4(BBS10):c.178T>C (p.Leu60=)
NM_024685.4(BBS10):c.1806A>G (p.Val602=) rs1951756000
NM_024685.4(BBS10):c.1809T>C (p.Gly603=) rs2136089890
NM_024685.4(BBS10):c.1812T>C (p.Gly604=)
NM_024685.4(BBS10):c.1824C>T (p.Ile608=) rs753129922
NM_024685.4(BBS10):c.1825T>C (p.Leu609=) rs2136089870
NM_024685.4(BBS10):c.1827G>A (p.Leu609=) rs376793096
NM_024685.4(BBS10):c.1828T>C (p.Leu610=)
NM_024685.4(BBS10):c.1851T>C (p.Tyr617=)
NM_024685.4(BBS10):c.1854C>T (p.Ala618=) rs2136089834
NM_024685.4(BBS10):c.1869A>G (p.Gln623=)
NM_024685.4(BBS10):c.1899A>T (p.Ile633=)
NM_024685.4(BBS10):c.1912T>C (p.Leu638=)
NM_024685.4(BBS10):c.1917C>G (p.Gly639=)
NM_024685.4(BBS10):c.1929C>A (p.Val643=)
NM_024685.4(BBS10):c.1929C>T (p.Val643=) rs779691612
NM_024685.4(BBS10):c.1941T>C (p.Ser647=) rs749965019
NM_024685.4(BBS10):c.1941T>G (p.Ser647=) rs749965019
NM_024685.4(BBS10):c.1944A>G (p.Lys648=)
NM_024685.4(BBS10):c.1947A>G (p.Thr649=) rs2136089752
NM_024685.4(BBS10):c.1950A>C (p.Gly650=) rs1369234749
NM_024685.4(BBS10):c.1953G>A (p.Lys651=)
NM_024685.4(BBS10):c.1956C>T (p.Tyr652=) rs1951754581
NM_024685.4(BBS10):c.197+18G>A
NM_024685.4(BBS10):c.197+20T>A
NM_024685.4(BBS10):c.197+7G>T rs1433969081
NM_024685.4(BBS10):c.1971A>G (p.Thr657=) rs2136089728
NM_024685.4(BBS10):c.198-12T>G rs1951774646
NM_024685.4(BBS10):c.198-17A>G
NM_024685.4(BBS10):c.198-17_198-14del rs776677235
NM_024685.4(BBS10):c.198-18T>G
NM_024685.4(BBS10):c.198-19T>G
NM_024685.4(BBS10):c.198-6G>A rs746527914
NM_024685.4(BBS10):c.198-7T>C rs2136091344
NM_024685.4(BBS10):c.198-8T>C
NM_024685.4(BBS10):c.198-9T>G rs2136091348
NM_024685.4(BBS10):c.1989T>C (p.His663=)
NM_024685.4(BBS10):c.198G>A (p.Arg66=)
NM_024685.4(BBS10):c.2004T>C (p.Asn668=)
NM_024685.4(BBS10):c.2010C>T (p.Pro670=)
NM_024685.4(BBS10):c.2031T>G (p.Gly677=)
NM_024685.4(BBS10):c.2040A>G (p.Ser680=) rs1201858558
NM_024685.4(BBS10):c.2049T>A (p.Gly683=)
NM_024685.4(BBS10):c.2055C>T (p.Tyr685=) rs752574665
NM_024685.4(BBS10):c.2059C>T (p.Leu687=) rs968389636
NM_024685.4(BBS10):c.2061A>G (p.Leu687=)
NM_024685.4(BBS10):c.2062C>T (p.Leu688=)
NM_024685.4(BBS10):c.2070A>T (p.Ser690=)
NM_024685.4(BBS10):c.2085G>A (p.Leu695=) rs2136089656
NM_024685.4(BBS10):c.2095T>C (p.Leu699=)
NM_024685.4(BBS10):c.2103T>C (p.Ile701=) rs2136089643
NM_024685.4(BBS10):c.2106C>T (p.Asp702=)
NM_024685.4(BBS10):c.210C>T (p.Asp70=) rs757062257
NM_024685.4(BBS10):c.2130C>T (p.His710=)
NM_024685.4(BBS10):c.2139A>G (p.Lys713=) rs2136089616
NM_024685.4(BBS10):c.2167C>T (p.Leu723=) rs1003705267
NM_024685.4(BBS10):c.246T>G (p.Gly82=)
NM_024685.4(BBS10):c.252A>G (p.Lys84=)
NM_024685.4(BBS10):c.264C>A (p.Ile88=)
NM_024685.4(BBS10):c.264C>T (p.Ile88=)
NM_024685.4(BBS10):c.270T>C (p.Leu90=) rs200390697
NM_024685.4(BBS10):c.273C>T (p.Cys91=)
NM_024685.4(BBS10):c.27G>C (p.Gly9=)
NM_024685.4(BBS10):c.288A>G (p.Gly96=) rs2136091268
NM_024685.4(BBS10):c.309A>G (p.Arg103=) rs745374133
NM_024685.4(BBS10):c.315G>A (p.Lys105=)
NM_024685.4(BBS10):c.336C>T (p.Asn112=) rs1951771752
NM_024685.4(BBS10):c.357T>C (p.His119=) rs201401485
NM_024685.4(BBS10):c.36G>A (p.Lys12=) rs2136091631
NM_024685.4(BBS10):c.381A>G (p.Lys127=)
NM_024685.4(BBS10):c.390C>T (p.Ser130=)
NM_024685.4(BBS10):c.414A>C (p.Thr138=)
NM_024685.4(BBS10):c.421T>C (p.Leu141=) rs2136091159
NM_024685.4(BBS10):c.426C>T (p.Asp142=) rs770799633
NM_024685.4(BBS10):c.445C>T (p.Leu149=) rs758553544
NM_024685.4(BBS10):c.460T>C (p.Leu154=) rs754415474
NM_024685.4(BBS10):c.474G>A (p.Ser158=) rs375436323
NM_024685.4(BBS10):c.477T>A (p.Ser159=)
NM_024685.4(BBS10):c.510A>G (p.Leu170=) rs2136091058
NM_024685.4(BBS10):c.513G>A (p.Glu171=)
NM_024685.4(BBS10):c.522A>G (p.Leu174=) rs2136091055
NM_024685.4(BBS10):c.534T>C (p.Phe178=)
NM_024685.4(BBS10):c.54C>A (p.Ala18=) rs772653493
NM_024685.4(BBS10):c.564A>G (p.Lys188=) rs1951768043
NM_024685.4(BBS10):c.577T>C (p.Leu193=) rs1951767890
NM_024685.4(BBS10):c.579G>A (p.Leu193=) rs2136091005
NM_024685.4(BBS10):c.597C>T (p.Phe199=)
NM_024685.4(BBS10):c.600G>A (p.Lys200=)
NM_024685.4(BBS10):c.60G>C (p.Val20=)
NM_024685.4(BBS10):c.60G>T (p.Val20=)
NM_024685.4(BBS10):c.621G>A (p.Gly207=) rs2136090980
NM_024685.4(BBS10):c.627T>A (p.Gly209=) rs2136090970
NM_024685.4(BBS10):c.630A>G (p.Val210=) rs759791957
NM_024685.4(BBS10):c.648C>T (p.Asp216=) rs748037727
NM_024685.4(BBS10):c.663G>A (p.Leu221=)
NM_024685.4(BBS10):c.684T>C (p.Leu228=)
NM_024685.4(BBS10):c.687T>A (p.Pro229=)
NM_024685.4(BBS10):c.69C>T (p.Ala23=) rs2136091596
NM_024685.4(BBS10):c.702G>A (p.Arg234=)
NM_024685.4(BBS10):c.711T>C (p.Ala237=)
NM_024685.4(BBS10):c.72C>T (p.Ile24=) rs754188249
NM_024685.4(BBS10):c.738T>C (p.Ser246=)
NM_024685.4(BBS10):c.750A>G (p.Pro250=) rs2136090884
NM_024685.4(BBS10):c.762C>T (p.Asp254=) rs2136090876
NM_024685.4(BBS10):c.801T>G (p.Leu267=)
NM_024685.4(BBS10):c.804T>C (p.Phe268=) rs770050659
NM_024685.4(BBS10):c.813T>C (p.Ser271=)
NM_024685.4(BBS10):c.816A>G (p.Gly272=)
NM_024685.4(BBS10):c.837A>G (p.Ser279=) rs2136090820
NM_024685.4(BBS10):c.843A>C (p.Ala281=)
NM_024685.4(BBS10):c.855A>T (p.Thr285=) rs1951765525
NM_024685.4(BBS10):c.858T>C (p.Ser286=) rs1592492325
NM_024685.4(BBS10):c.876A>G (p.Glu292=) rs2136090796
NM_024685.4(BBS10):c.879G>A (p.Lys293=) rs2136090790
NM_024685.4(BBS10):c.903A>G (p.Leu301=) rs2136090772
NM_024685.4(BBS10):c.912G>A (p.Gln304=)
NM_024685.4(BBS10):c.927C>G (p.Leu309=)
NM_024685.4(BBS10):c.933T>C (p.Ser311=)
NM_024685.4(BBS10):c.93C>T (p.Pro31=)
NM_024685.4(BBS10):c.945A>G (p.Gln315=) rs2136090742
NM_024685.4(BBS10):c.951T>C (p.Asp317=)
NM_024685.4(BBS10):c.963T>C (p.Tyr321=) rs1555202662
NM_024685.4(BBS10):c.969A>C (p.Ala323=)
NM_024685.4(BBS10):c.975G>A (p.Val325=)
NM_024685.4(BBS10):c.999T>C (p.Cys333=) rs1565809867

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