ClinVar Miner

List of variants in gene BBS1 studied for Bardet-Biedl syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 383
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.378G>A (p.Leu126=) rs2298806 0.21158
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys) rs138744839 0.00115
NM_024649.5(BBS1):c.616T>G (p.Leu206Val) rs146052054 0.00066
NM_024649.5(BBS1):c.432+5A>G rs373923317 0.00021
NM_024649.5(BBS1):c.360C>T (p.Pro120=) rs373756451 0.00019
NM_024649.5(BBS1):c.200G>A (p.Arg67His) rs145718265 0.00014
NM_024649.5(BBS1):c.330T>C (p.Pro110=) rs760469814 0.00012
NM_024649.5(BBS1):c.479+20T>C rs756451521 0.00010
NM_024649.5(BBS1):c.54G>A (p.Glu18=) rs761128852 0.00009
NM_024649.5(BBS1):c.6C>T (p.Ala2=) rs143592479 0.00009
NM_024649.5(BBS1):c.234C>T (p.Thr78=) rs748732460 0.00008
NM_024649.5(BBS1):c.407A>G (p.Gln136Arg) rs144833282 0.00008
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp) rs199633103 0.00006
NM_024649.5(BBS1):c.569A>T (p.Lys190Met) rs778672601 0.00006
NM_024649.5(BBS1):c.592-19C>T rs757918171 0.00006
NM_024649.5(BBS1):c.669C>T (p.Thr223=) rs375121390 0.00006
NM_024649.5(BBS1):c.551C>T (p.Ala184Val) rs372673129 0.00005
NM_024649.5(BBS1):c.159+14C>T rs758468091 0.00004
NM_024649.5(BBS1):c.163G>A (p.Val55Met) rs181765153 0.00004
NM_024649.5(BBS1):c.175C>G (p.Leu59Val) rs113822005 0.00004
NM_024649.5(BBS1):c.274T>C (p.Phe92Leu) rs778339359 0.00004
NM_024649.5(BBS1):c.432+13C>T rs759287238 0.00004
NM_024649.5(BBS1):c.437G>A (p.Arg146Gln) rs759253107 0.00004
NM_024649.5(BBS1):c.48-11C>T rs760009418 0.00004
NM_024649.5(BBS1):c.48-9C>A rs765571574 0.00004
NM_024649.5(BBS1):c.480-14C>T rs1374689742 0.00004
NM_024649.5(BBS1):c.485C>T (p.Thr162Met) rs148576114 0.00004
NM_024649.5(BBS1):c.88C>A (p.Pro30Thr) rs368510687 0.00004
NM_024649.5(BBS1):c.190C>G (p.Gln64Glu) rs369843749 0.00003
NM_024649.5(BBS1):c.332G>A (p.Cys111Tyr) rs765960634 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_024649.5(BBS1):c.518+20C>T rs375567052 0.00003
NM_024649.5(BBS1):c.684C>T (p.Leu228=) rs764202615 0.00003
NM_024649.5(BBS1):c.160-10C>G rs202108911 0.00002
NM_024649.5(BBS1):c.169G>C (p.Gly57Arg) rs1355873337 0.00002
NM_024649.5(BBS1):c.21G>T (p.Ser7=) rs745789744 0.00002
NM_024649.5(BBS1):c.243G>A (p.Pro81=) rs141429900 0.00002
NM_024649.5(BBS1):c.253C>T (p.Leu85=) rs748727758 0.00002
NM_024649.5(BBS1):c.357A>T (p.Arg119Ser) rs190513580 0.00002
NM_024649.5(BBS1):c.43G>A (p.Glu15Lys) rs761601575 0.00002
NM_024649.5(BBS1):c.47+7G>C rs370342126 0.00002
NM_024649.5(BBS1):c.479+2T>G rs1353098253 0.00002
NM_024649.5(BBS1):c.48-8A>G rs753125999 0.00002
NM_024649.5(BBS1):c.518+5G>A rs1428618323 0.00002
NM_024649.5(BBS1):c.606C>T (p.Thr202=) rs372141621 0.00002
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) rs193922709 0.00002
NM_024649.5(BBS1):c.96C>T (p.Ala32=) rs776061360 0.00002
NM_024649.5(BBS1):c.104A>G (p.His35Arg) rs775990952 0.00001
NM_024649.5(BBS1):c.10G>T (p.Ala4Ser) rs745375133 0.00001
NM_024649.5(BBS1):c.118del (p.Cys40fs) rs1490351829 0.00001
NM_024649.5(BBS1):c.125-11T>C rs762092708 0.00001
NM_024649.5(BBS1):c.125-9G>A rs759208852 0.00001
NM_024649.5(BBS1):c.138A>G (p.Leu46=) rs1590754166 0.00001
NM_024649.5(BBS1):c.157A>G (p.Lys53Glu) rs766602837 0.00001
NM_024649.5(BBS1):c.159G>A (p.Lys53=) rs1262106058 0.00001
NM_024649.5(BBS1):c.184G>C (p.Gly62Arg) rs763878620 0.00001
NM_024649.5(BBS1):c.18A>G (p.Ser6=) rs758441011 0.00001
NM_024649.5(BBS1):c.199C>T (p.Arg67Cys) rs767385250 0.00001
NM_024649.5(BBS1):c.242C>T (p.Pro81Leu) rs1479663514 0.00001
NM_024649.5(BBS1):c.280A>G (p.Met94Val) rs1376711744 0.00001
NM_024649.5(BBS1):c.32C>T (p.Ala11Val) rs150122944 0.00001
NM_024649.5(BBS1):c.338A>T (p.Tyr113Phe) rs753517084 0.00001
NM_024649.5(BBS1):c.339T>C (p.Tyr113=) rs754412005 0.00001
NM_024649.5(BBS1):c.33C>A (p.Ala11=) rs1336755113 0.00001
NM_024649.5(BBS1):c.381C>T (p.Pro127=) rs1317121045 0.00001
NM_024649.5(BBS1):c.384A>G (p.Gln128=) rs149442804 0.00001
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) rs878855095 0.00001
NM_024649.5(BBS1):c.432+17G>C rs752185178 0.00001
NM_024649.5(BBS1):c.433-20C>G rs186822905 0.00001
NM_024649.5(BBS1):c.433-5C>T rs542052064 0.00001
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444 0.00001
NM_024649.5(BBS1):c.441C>T (p.Ile147=) rs544997496 0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985 0.00001
NM_024649.5(BBS1):c.445C>T (p.Pro149Ser) rs762511224 0.00001
NM_024649.5(BBS1):c.447C>T (p.Pro149=) rs763738657 0.00001
NM_024649.5(BBS1):c.464T>C (p.Met155Thr) rs879524751 0.00001
NM_024649.5(BBS1):c.48-2A>C rs764245266 0.00001
NM_024649.5(BBS1):c.48-4C>G rs763314002 0.00001
NM_024649.5(BBS1):c.483G>A (p.Glu161=) rs745832920 0.00001
NM_024649.5(BBS1):c.48C>T (p.Ser16=) rs200255383 0.00001
NM_024649.5(BBS1):c.496C>G (p.Pro166Ala) rs748946143 0.00001
NM_024649.5(BBS1):c.509A>G (p.Gln170Arg) rs774163850 0.00001
NM_024649.5(BBS1):c.533A>G (p.Glu178Gly) rs1454643152 0.00001
NM_024649.5(BBS1):c.575A>G (p.Asn192Ser) rs1207942097 0.00001
NM_024649.5(BBS1):c.587G>A (p.Arg196Gln) rs142769864 0.00001
NM_024649.5(BBS1):c.591+8C>T rs1043360776 0.00001
NM_024649.5(BBS1):c.592-18C>A rs1382520569 0.00001
NM_024649.5(BBS1):c.592-7T>C rs1377616978 0.00001
NM_024649.5(BBS1):c.595G>A (p.Val199Ile) rs1300549627 0.00001
NM_024649.5(BBS1):c.602C>T (p.Thr201Ile) rs1368294392 0.00001
NM_024649.5(BBS1):c.636C>T (p.Asp212=) rs775900681 0.00001
NM_024649.5(BBS1):c.646G>A (p.Val216Met) rs764165386 0.00001
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg) rs761760689 0.00001
NM_024649.5(BBS1):c.699C>T (p.Pro233=) rs777250313 0.00001
NM_024649.5(BBS1):c.708C>G (p.Phe236Leu) rs1482951221 0.00001
NM_024649.5(BBS1):c.70T>C (p.Leu24=) rs747891096 0.00001
NM_024649.5(BBS1):c.723+1G>C rs1295318869 0.00001
NM_024649.5(BBS1):c.723+7G>A rs770220426 0.00001
GRCh37/hg19 11q13.2(chr11:66290130-66305022)
NC_000011.10:g.(?_66510640)_(66523902_?)del
NC_000011.10:g.(?_66510650)_(66511249_?)del
NC_000011.10:g.(?_66510650)_(66524211_?)del
NC_000011.10:g.(?_66519607)_(66521386_?)del
NC_000011.10:g.(?_66523446)_(66524211_?)del
NC_000011.10:g.(?_66529809)_(66532047_?)del
NC_000011.10:g.66515694del
NC_000011.9:g.(66278711_66281876)_(66291354_66293593)del
NC_000011.9:g.(?_66278111)_(66299528_?)del
NC_000011.9:g.(?_66278131)_(66278730_?)dup
NC_000011.9:g.(?_66278131)_(66283424_?)del
NC_000011.9:g.(?_66278131)_(66291682_?)del
NC_000011.9:g.(?_66281867)_(66288857_?)dup
NC_000011.9:g.(?_66283001)_(66287229_?)del
NC_000011.9:g.(?_66283154)_(66287229_?)del
NC_000011.9:g.(?_66287078)_(66291105_?)del
NC_000011.9:g.(?_66288721)_(66293683_?)del
NC_000011.9:g.(?_66290907)_(66299508_?)del
NC_000011.9:g.(?_66290917)_(66291363_?)del
NC_000011.9:g.(?_66290917)_(66294288_?)dup
NC_000011.9:g.(?_66291682)_(66293673_?)del
NC_000011.9:g.(?_66293041)_(66297307_?)del
NC_000011.9:g.(?_66293574)_(66294298_?)del
NC_000011.9:g.(?_66293574)_(66299508_?)del
NC_000011.9:g.(?_66297270)_(66299508_?)del
NM_024649.4(BBS1):c.1111-?_1695+?del
NM_024649.4(BBS1):c.592-?_830+?del
NM_024649.4:c.(159+1_160-1)_(1110+1_1111-1)del
NM_024649.4:c.1214_1215ins[MT113356.1:g.1_2409]
NM_024649.4:c.160-?_1110+?del
NM_024649.5(BBS1):c.-3_37del (p.Met1fs) rs113994178
NM_024649.5(BBS1):c.102C>A (p.Ile34=) rs760081811
NM_024649.5(BBS1):c.102C>T (p.Ile34=) rs760081811
NM_024649.5(BBS1):c.103dup (p.His35fs)
NM_024649.5(BBS1):c.105C>T (p.His35=)
NM_024649.5(BBS1):c.111T>C (p.Phe37=)
NM_024649.5(BBS1):c.120C>T (p.Cys40=) rs1224146191
NM_024649.5(BBS1):c.124+11G>A
NM_024649.5(BBS1):c.124+13A>G rs751779071
NM_024649.5(BBS1):c.124+17A>C rs1374531142
NM_024649.5(BBS1):c.124+17A>G
NM_024649.5(BBS1):c.124+18G>A
NM_024649.5(BBS1):c.124+19G>C rs761993639
NM_024649.5(BBS1):c.124+1G>C rs1057516449
NM_024649.5(BBS1):c.124+9C>T
NM_024649.5(BBS1):c.125-14C>T
NM_024649.5(BBS1):c.125-15C>T
NM_024649.5(BBS1):c.125-18G>T
NM_024649.5(BBS1):c.125-4C>T rs2134765678
NM_024649.5(BBS1):c.12G>A (p.Ala4=) rs754161831
NM_024649.5(BBS1):c.132A>G (p.Ala44=) rs2134765700
NM_024649.5(BBS1):c.144G>A (p.Gly48=) rs2134765721
NM_024649.5(BBS1):c.145del (p.Asp49fs) rs1855937296
NM_024649.5(BBS1):c.14C>T (p.Ser5Phe)
NM_024649.5(BBS1):c.150G>A (p.Gly50=)
NM_024649.5(BBS1):c.152A>C (p.Glu51Ala)
NM_024649.5(BBS1):c.156C>T (p.Tyr52=)
NM_024649.5(BBS1):c.158dup (p.Leu54fs) rs1313590454
NM_024649.5(BBS1):c.159+11C>T rs1565280409
NM_024649.5(BBS1):c.159+11dup
NM_024649.5(BBS1):c.159+13C>A rs1855938272
NM_024649.5(BBS1):c.159+13C>T
NM_024649.5(BBS1):c.159+15C>A
NM_024649.5(BBS1):c.159+16T>A
NM_024649.5(BBS1):c.159+1G>A
NM_024649.5(BBS1):c.159+2del rs1348187150
NM_024649.5(BBS1):c.159+4A>G
NM_024649.5(BBS1):c.160-12C>T
NM_024649.5(BBS1):c.160-1G>A
NM_024649.5(BBS1):c.160-5T>G rs1856006695
NM_024649.5(BBS1):c.160-6C>T rs1590756372
NM_024649.5(BBS1):c.160-7C>T rs2134771164
NM_024649.5(BBS1):c.174C>T (p.Asp58=)
NM_024649.5(BBS1):c.179G>C (p.Gly60Ala)
NM_024649.5(BBS1):c.17dup (p.Ser7fs) rs1166022838
NM_024649.5(BBS1):c.18A>C (p.Ser6=)
NM_024649.5(BBS1):c.18A>T (p.Ser6=) rs758441011
NM_024649.5(BBS1):c.194A>G (p.Gln65Arg) rs1856007588
NM_024649.5(BBS1):c.1A>G (p.Met1Val) rs1306821707
NM_024649.5(BBS1):c.1A>T (p.Met1Leu) rs1306821707
NM_024649.5(BBS1):c.201C>T (p.Arg67=) rs2134771274
NM_024649.5(BBS1):c.204G>A (p.Leu68=) rs11553180
NM_024649.5(BBS1):c.217G>T (p.Gly73Ter) rs1012901050
NM_024649.5(BBS1):c.21G>A (p.Ser7=)
NM_024649.5(BBS1):c.21G>C (p.Ser7=)
NM_024649.5(BBS1):c.222A>C (p.Pro74=)
NM_024649.5(BBS1):c.222A>G (p.Pro74=)
NM_024649.5(BBS1):c.223C>A (p.Leu75Met)
NM_024649.5(BBS1):c.223_224del (p.Leu75fs) rs1057516451
NM_024649.5(BBS1):c.225G>A (p.Leu75=) rs2134771305
NM_024649.5(BBS1):c.227T>A (p.Val76Glu) rs2134771309
NM_024649.5(BBS1):c.228G>A (p.Val76=)
NM_024649.5(BBS1):c.230T>C (p.Met77Thr) rs377037816
NM_024649.5(BBS1):c.234C>G (p.Thr78=) rs748732460
NM_024649.5(BBS1):c.235G>T (p.Glu79Ter) rs138744839
NM_024649.5(BBS1):c.237A>G (p.Glu79=) rs2134771324
NM_024649.5(BBS1):c.240C>T (p.Ser80=) rs1590756460
NM_024649.5(BBS1):c.243G>C (p.Pro81=) rs141429900
NM_024649.5(BBS1):c.243G>T (p.Pro81=) rs141429900
NM_024649.5(BBS1):c.252T>C (p.Ala84=)
NM_024649.5(BBS1):c.254T>G (p.Leu85Arg)
NM_024649.5(BBS1):c.256C>T (p.Pro86Ser) rs2134771356
NM_024649.5(BBS1):c.267T>C (p.Ala89=) rs1481566685
NM_024649.5(BBS1):c.270C>T (p.Ala90=) rs2134771366
NM_024649.5(BBS1):c.273C>T (p.Thr91=)
NM_024649.5(BBS1):c.276C>T (p.Phe92=)
NM_024649.5(BBS1):c.279C>T (p.Leu93=)
NM_024649.5(BBS1):c.27C>T (p.Ser9=) rs373772468
NM_024649.5(BBS1):c.285G>A (p.Glu95=) rs1303303948
NM_024649.5(BBS1):c.290A>G (p.His97Arg)
NM_024649.5(BBS1):c.298C>T (p.Arg100Trp)
NM_024649.5(BBS1):c.299G>A (p.Arg100Gln)
NM_024649.5(BBS1):c.2T>C (p.Met1Thr)
NM_024649.5(BBS1):c.300G>T (p.Arg100=)
NM_024649.5(BBS1):c.303C>T (p.Thr101=)
NM_024649.5(BBS1):c.309T>G (p.Ala103=)
NM_024649.5(BBS1):c.30C>T (p.Asp10=)
NM_024649.5(BBS1):c.312G>T (p.Leu104=)
NM_024649.5(BBS1):c.316C>G (p.Leu106Val) rs137853913
NM_024649.5(BBS1):c.316C>T (p.Leu106Phe) rs137853913
NM_024649.5(BBS1):c.319dup (p.Ala107fs) rs1856010064
NM_024649.5(BBS1):c.331del (p.Cys111fs)
NM_024649.5(BBS1):c.336C>A (p.Val112=) rs2134771483
NM_024649.5(BBS1):c.337T>C (p.Tyr113His) rs2134771484
NM_024649.5(BBS1):c.339del (p.Val112_Tyr113insTer)
NM_024649.5(BBS1):c.342G>A (p.Val114=) rs2134771502
NM_024649.5(BBS1):c.345dup (p.Lys116Ter) rs1555046611
NM_024649.5(BBS1):c.346_347dup (p.Asn117fs)
NM_024649.5(BBS1):c.356_357insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATCTCAG (p.Arg119_Pro120insAlaGlyArgGlyGlySerArgLeuTer)
NM_024649.5(BBS1):c.357A>G (p.Arg119=)
NM_024649.5(BBS1):c.35G>A (p.Cys12Tyr)
NM_024649.5(BBS1):c.363C>T (p.Tyr121=)
NM_024649.5(BBS1):c.369G>A (p.Lys123=) rs1432629236
NM_024649.5(BBS1):c.36C>T (p.Cys12=) rs1590753542
NM_024649.5(BBS1):c.372C>T (p.Phe124=)
NM_024649.5(BBS1):c.374G>A (p.Ser125Asn)
NM_024649.5(BBS1):c.382C>T (p.Gln128Ter) rs2134771570
NM_024649.5(BBS1):c.398C>T (p.Pro133Leu)
NM_024649.5(BBS1):c.3G>A (p.Met1Ile)
NM_024649.5(BBS1):c.400C>T (p.Leu134=) rs771933760
NM_024649.5(BBS1):c.417G>A (p.Trp139Ter) rs1856011993
NM_024649.5(BBS1):c.41C>T (p.Ala14Val)
NM_024649.5(BBS1):c.421C>T (p.Gln141Ter) rs2134771631
NM_024649.5(BBS1):c.424G>T (p.Ala142Ser)
NM_024649.5(BBS1):c.432+14A>C rs764645595
NM_024649.5(BBS1):c.432+14A>G
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024649.5(BBS1):c.432+7A>G
NM_024649.5(BBS1):c.433-11C>T
NM_024649.5(BBS1):c.433-19T>C
NM_024649.5(BBS1):c.433-4A>G
NM_024649.5(BBS1):c.433-6T>G
NM_024649.5(BBS1):c.433-9T>C rs2134773143
NM_024649.5(BBS1):c.433G>T (p.Asp145Tyr)
NM_024649.5(BBS1):c.446C>T (p.Pro149Leu) rs1486897768
NM_024649.5(BBS1):c.449T>A (p.Leu150Ter)
NM_024649.5(BBS1):c.45G>A (p.Glu15=) rs767116799
NM_024649.5(BBS1):c.465G>A (p.Met155Ile)
NM_024649.5(BBS1):c.466C>T (p.Leu156=) rs2134773250
NM_024649.5(BBS1):c.468G>A (p.Leu156=) rs752092460
NM_024649.5(BBS1):c.46A>T (p.Ser16Cys) rs772917364
NM_024649.5(BBS1):c.47+12G>A
NM_024649.5(BBS1):c.47+15C>A
NM_024649.5(BBS1):c.47+16C>T
NM_024649.5(BBS1):c.47+19A>G rs970767838
NM_024649.5(BBS1):c.47+1G>T rs1475257145
NM_024649.5(BBS1):c.47+20A>C
NM_024649.5(BBS1):c.47+20A>G
NM_024649.5(BBS1):c.47+7G>A
NM_024649.5(BBS1):c.47+7G>T
NM_024649.5(BBS1):c.47+9A>C
NM_024649.5(BBS1):c.47+9A>G
NM_024649.5(BBS1):c.47+9A>T rs755329603
NM_024649.5(BBS1):c.477C>T (p.Ile159=)
NM_024649.5(BBS1):c.479+12C>T
NM_024649.5(BBS1):c.479+16C>T
NM_024649.5(BBS1):c.479+7G>A
NM_024649.5(BBS1):c.479+9C>T rs2134773282
NM_024649.5(BBS1):c.48-10C>T
NM_024649.5(BBS1):c.48-13C>A
NM_024649.5(BBS1):c.48-14dup
NM_024649.5(BBS1):c.48-18T>C
NM_024649.5(BBS1):c.48-1G>A rs751753112
NM_024649.5(BBS1):c.48-1G>T rs751753112
NM_024649.5(BBS1):c.48-2A>G
NM_024649.5(BBS1):c.48-7C>T rs2134765142
NM_024649.5(BBS1):c.48-9C>G
NM_024649.5(BBS1):c.48-9C>T rs765571574
NM_024649.5(BBS1):c.480-2A>C rs1856035426
NM_024649.5(BBS1):c.480-4G>T
NM_024649.5(BBS1):c.480-5T>C
NM_024649.5(BBS1):c.480-9T>C rs1856035253
NM_024649.5(BBS1):c.480G>T (p.Arg160=)
NM_024649.5(BBS1):c.486G>A (p.Thr162=)
NM_024649.5(BBS1):c.486G>T (p.Thr162=)
NM_024649.5(BBS1):c.489A>G (p.Ala163=)
NM_024649.5(BBS1):c.491A>G (p.Glu164Gly) rs1319438351
NM_024649.5(BBS1):c.492G>A (p.Glu164=)
NM_024649.5(BBS1):c.514C>T (p.Leu172Phe) rs1026985396
NM_024649.5(BBS1):c.518+12G>A
NM_024649.5(BBS1):c.518+15G>T
NM_024649.5(BBS1):c.518+19G>A
NM_024649.5(BBS1):c.519-16T>G
NM_024649.5(BBS1):c.519-20C>G rs539484942
NM_024649.5(BBS1):c.51T>C (p.Asn17=) rs2134765186
NM_024649.5(BBS1):c.522T>C (p.Phe174=)
NM_024649.5(BBS1):c.526C>T (p.Gln176Ter)
NM_024649.5(BBS1):c.528G>A (p.Gln176=)
NM_024649.5(BBS1):c.534G>A (p.Glu178=) rs2134773837
NM_024649.5(BBS1):c.535C>T (p.Leu179=) rs2134773849
NM_024649.5(BBS1):c.549G>A (p.Glu183=) rs2134773873
NM_024649.5(BBS1):c.558A>T (p.Val186=) rs1856039229
NM_024649.5(BBS1):c.561C>T (p.Asn187=)
NM_024649.5(BBS1):c.573dup (p.Asn192fs)
NM_024649.5(BBS1):c.576C>T (p.Asn192=) rs2134773921
NM_024649.5(BBS1):c.579C>T (p.Ser193=) rs747846164
NM_024649.5(BBS1):c.57C>G (p.Ala19=) rs755026677
NM_024649.5(BBS1):c.585G>A (p.Lys195=) rs2134773941
NM_024649.5(BBS1):c.586C>T (p.Arg196Trp)
NM_024649.5(BBS1):c.588G>A (p.Arg196=)
NM_024649.5(BBS1):c.589C>T (p.Gln197Ter) rs777143614
NM_024649.5(BBS1):c.591+10C>A rs2134774008
NM_024649.5(BBS1):c.591+10C>T
NM_024649.5(BBS1):c.591+10_591+11dup rs770545908
NM_024649.5(BBS1):c.591+11C>T
NM_024649.5(BBS1):c.591+11del
NM_024649.5(BBS1):c.591+13T>C
NM_024649.5(BBS1):c.591+18T>G rs2134774029
NM_024649.5(BBS1):c.591+7C>G rs1407448709
NM_024649.5(BBS1):c.592-10C>T
NM_024649.5(BBS1):c.592-11T>A rs2134780351
NM_024649.5(BBS1):c.592-17C>T
NM_024649.5(BBS1):c.592-19C>A
NM_024649.5(BBS1):c.592-20C>G rs778903752
NM_024649.5(BBS1):c.592-20C>T
NM_024649.5(BBS1):c.592-4G>A
NM_024649.5(BBS1):c.592-5T>C
NM_024649.5(BBS1):c.592-6C>A
NM_024649.5(BBS1):c.592-6C>G
NM_024649.5(BBS1):c.592-6C>T rs1462048534
NM_024649.5(BBS1):c.592-7_592-5del rs774944051
NM_024649.5(BBS1):c.595_598del (p.Val199fs) rs1555047409
NM_024649.5(BBS1):c.59A>G (p.Asn20Ser)
NM_024649.5(BBS1):c.605C>G (p.Thr202Ser)
NM_024649.5(BBS1):c.607del (p.Thr202_Met203insTer) rs2134780429
NM_024649.5(BBS1):c.612C>A (p.Thr204=)
NM_024649.5(BBS1):c.614C>T (p.Thr205Ile)
NM_024649.5(BBS1):c.634G>A (p.Asp212Asn) rs2134780459
NM_024649.5(BBS1):c.63G>A (p.Ser21=) rs2134765230
NM_024649.5(BBS1):c.650C>T (p.Ser217Phe)
NM_024649.5(BBS1):c.651T>G (p.Ser217=)
NM_024649.5(BBS1):c.667del (p.Thr223fs)
NM_024649.5(BBS1):c.66G>A (p.Lys22=)
NM_024649.5(BBS1):c.672G>A (p.Glu224=)
NM_024649.5(BBS1):c.677A>G (p.Lys226Arg) rs1856141438
NM_024649.5(BBS1):c.686T>C (p.Leu229Pro)
NM_024649.5(BBS1):c.687G>A (p.Leu229=) rs752374832
NM_024649.5(BBS1):c.688del (p.Val230fs) rs1856141939
NM_024649.5(BBS1):c.68G>A (p.Trp23Ter) rs778850233
NM_024649.5(BBS1):c.690G>A (p.Val230=) rs2134780572
NM_024649.5(BBS1):c.690dup (p.Leu231fs)
NM_024649.5(BBS1):c.696C>T (p.Asp232=) rs2134780578
NM_024649.5(BBS1):c.6C>A (p.Ala2=) rs143592479
NM_024649.5(BBS1):c.6C>G (p.Ala2=)
NM_024649.5(BBS1):c.705C>T (p.Ala235=) rs2134780617
NM_024649.5(BBS1):c.718G>T (p.Ala240Ser)
NM_024649.5(BBS1):c.71dup (p.Leu24fs) rs1855932012
NM_024649.5(BBS1):c.723+11G>C
NM_024649.5(BBS1):c.723+12G>A
NM_024649.5(BBS1):c.723+13T>C
NM_024649.5(BBS1):c.723+14C>G
NM_024649.5(BBS1):c.723+16G>T
NM_024649.5(BBS1):c.723+19C>T
NM_024649.5(BBS1):c.723+1G>A
NM_024649.5(BBS1):c.723+2T>G
NM_024649.5(BBS1):c.75T>C (p.Asp25=)
NM_024649.5(BBS1):c.77C>T (p.Ala26Val) rs866558676
NM_024649.5(BBS1):c.7G>T (p.Ala3Ser)
NM_024649.5(BBS1):c.83A>G (p.Tyr28Cys) rs1263024783
NM_024649.5(BBS1):c.84C>T (p.Tyr28=) rs771560964
NM_024649.5(BBS1):c.93G>C (p.Met31Ile)
Single allele

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