ClinVar Miner

List of variants in gene BBS1 reported as likely benign for Bardet-Biedl syndrome

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 217
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HGVS dbSNP gnomAD frequency
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.616T>G (p.Leu206Val) rs146052054 0.00066
NM_024649.5(BBS1):c.360C>T (p.Pro120=) rs373756451 0.00019
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.124+17A>G rs1374531142 0.00006
NM_024649.5(BBS1):c.669C>T (p.Thr223=) rs375121390 0.00006
NM_024649.5(BBS1):c.159+14C>T rs758468091 0.00004
NM_024649.5(BBS1):c.330T>C (p.Pro110=) rs760469814 0.00004
NM_024649.5(BBS1):c.432+13C>T rs759287238 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.12G>A (p.Ala4=) rs754161831 0.00003
NM_024649.5(BBS1):c.243G>A (p.Pro81=) rs141429900 0.00003
NM_024649.5(BBS1):c.253C>T (p.Leu85=) rs748727758 0.00003
NM_024649.5(BBS1):c.48-11C>T rs760009418 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.21G>T (p.Ser7=) rs745789744 0.00002
NM_024649.5(BBS1):c.447C>T (p.Pro149=) rs763738657 0.00002
NM_024649.5(BBS1):c.47+7G>C rs370342126 0.00002
NM_024649.5(BBS1):c.48-8A>G rs753125999 0.00002
NM_024649.5(BBS1):c.480-4G>T rs367706684 0.00002
NM_024649.5(BBS1):c.606C>T (p.Thr202=) rs372141621 0.00002
NM_024649.5(BBS1):c.96C>T (p.Ala32=) rs776061360 0.00002
NM_024649.5(BBS1):c.111T>C (p.Phe37=) rs370608923 0.00001
NM_024649.5(BBS1):c.124+11G>A rs1479928467 0.00001
NM_024649.5(BBS1):c.124+18G>A rs776909699 0.00001
NM_024649.5(BBS1):c.125-11T>C rs762092708 0.00001
NM_024649.5(BBS1):c.125-15C>T rs2495728814 0.00001
NM_024649.5(BBS1):c.125-9G>A rs759208852 0.00001
NM_024649.5(BBS1):c.132A>G (p.Ala44=) rs2134765700 0.00001
NM_024649.5(BBS1):c.138A>G (p.Leu46=) rs1590754166 0.00001
NM_024649.5(BBS1):c.18A>G (p.Ser6=) rs758441011 0.00001
NM_024649.5(BBS1):c.252T>C (p.Ala84=) rs1856008907 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.372C>T (p.Phe124=) rs1319800800 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.432+14A>G rs764645595 0.00001
NM_024649.5(BBS1):c.432+17G>C rs752185178 0.00001
NM_024649.5(BBS1):c.433-19T>C rs2495739728 0.00001
NM_024649.5(BBS1):c.433-20C>G rs186822905 0.00001
NM_024649.5(BBS1):c.441C>T (p.Ile147=) rs544997496 0.00001
NM_024649.5(BBS1):c.47+20A>G rs1250037505 0.00001
NM_024649.5(BBS1):c.47+9A>G rs755329603 0.00001
NM_024649.5(BBS1):c.479+12C>T rs750735728 0.00001
NM_024649.5(BBS1):c.48-4C>G rs763314002 0.00001
NM_024649.5(BBS1):c.480-5T>C rs1332530635 0.00001
NM_024649.5(BBS1):c.483G>A (p.Glu161=) rs745832920 0.00001
NM_024649.5(BBS1):c.486G>A (p.Thr162=) rs779770809 0.00001
NM_024649.5(BBS1):c.518+12G>A rs941430837 0.00001
NM_024649.5(BBS1):c.518+19G>A rs1276537863 0.00001
NM_024649.5(BBS1):c.519-20C>G rs539484942 0.00001
NM_024649.5(BBS1):c.588G>A (p.Arg196=) rs771281867 0.00001
NM_024649.5(BBS1):c.591+11C>T rs759852344 0.00001
NM_024649.5(BBS1):c.591+13T>C rs566796294 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.592-19C>T rs757918171 0.00001
NM_024649.5(BBS1):c.592-4G>A rs1856138207 0.00001
NM_024649.5(BBS1):c.592-6C>A rs1462048534 0.00001
NM_024649.5(BBS1):c.592-7T>C rs1377616978 0.00001
NM_024649.5(BBS1):c.636C>T (p.Asp212=) rs775900681 0.00001
NM_024649.5(BBS1):c.699C>T (p.Pro233=) rs777250313 0.00001
NM_024649.5(BBS1):c.70T>C (p.Leu24=) rs747891096 0.00001
NM_024649.5(BBS1):c.723+13T>C rs776079452 0.00001
NM_024649.5(BBS1):c.723+16G>T rs1856144047 0.00001
NM_024649.5(BBS1):c.723+19C>T rs769098484 0.00001
NM_024649.5(BBS1):c.723+7G>A rs770220426 0.00001
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.105C>T (p.His35=) rs1342061217
NM_024649.5(BBS1):c.120C>T (p.Cys40=) rs1224146191
NM_024649.5(BBS1):c.124+13A>G rs751779071
NM_024649.5(BBS1):c.124+17A>C rs1374531142
NM_024649.5(BBS1):c.124+19G>C rs761993639
NM_024649.5(BBS1):c.124+9C>T rs2495728323
NM_024649.5(BBS1):c.125-18G>T rs2495728797
NM_024649.5(BBS1):c.125-4C>T rs2134765678
NM_024649.5(BBS1):c.144G>A (p.Gly48=) rs2134765721
NM_024649.5(BBS1):c.150G>A (p.Gly50=) rs2495728948
NM_024649.5(BBS1):c.156C>T (p.Tyr52=) rs2495728971
NM_024649.5(BBS1):c.159+11C>T rs1565280409
NM_024649.5(BBS1):c.159+11dup rs2495729045
NM_024649.5(BBS1):c.159+13C>A rs1855938272
NM_024649.5(BBS1):c.159+13C>T rs1855938272
NM_024649.5(BBS1):c.159+15C>A rs751245532
NM_024649.5(BBS1):c.159+16T>A rs2495729081
NM_024649.5(BBS1):c.160-12C>T rs748409974
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=) rs2495736130
NM_024649.5(BBS1):c.18A>C (p.Ser6=) rs758441011
NM_024649.5(BBS1):c.18A>T (p.Ser6=) rs758441011
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.21G>A (p.Ser7=) rs745789744
NM_024649.5(BBS1):c.21G>C (p.Ser7=) rs745789744
NM_024649.5(BBS1):c.222A>C (p.Pro74=) rs2495736260
NM_024649.5(BBS1):c.222A>G (p.Pro74=) rs2495736260
NM_024649.5(BBS1):c.225G>A (p.Leu75=) rs2134771305
NM_024649.5(BBS1):c.228G>A (p.Val76=) rs2495736278
NM_024649.5(BBS1):c.234C>A (p.Thr78=)
NM_024649.5(BBS1):c.234C>G (p.Thr78=) rs748732460
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.267T>C (p.Ala89=) rs1481566685
NM_024649.5(BBS1):c.270C>T (p.Ala90=) rs2134771366
NM_024649.5(BBS1):c.273C>T (p.Thr91=) rs2495736445
NM_024649.5(BBS1):c.276C>T (p.Phe92=) rs1429517280
NM_024649.5(BBS1):c.279C>T (p.Leu93=) rs1173082579
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.300G>T (p.Arg100=) rs2495736542
NM_024649.5(BBS1):c.303C>T (p.Thr101=) rs2495736548
NM_024649.5(BBS1):c.309T>G (p.Ala103=) rs2495736574
NM_024649.5(BBS1):c.30C>T (p.Asp10=) rs1360969412
NM_024649.5(BBS1):c.312G>T (p.Leu104=) rs2495736581
NM_024649.5(BBS1):c.336C>A (p.Val112=) rs2134771483
NM_024649.5(BBS1):c.342G>A (p.Val114=) rs2134771502
NM_024649.5(BBS1):c.357A>G (p.Arg119=) rs190513580
NM_024649.5(BBS1):c.363C>T (p.Tyr121=) rs1856010874
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.400C>T (p.Leu134=) rs771933760
NM_024649.5(BBS1):c.432+14A>C rs764645595
NM_024649.5(BBS1):c.432+7A>G rs2495737097
NM_024649.5(BBS1):c.432+9_432+12del rs1555046629
NM_024649.5(BBS1):c.433-11C>T rs1410793647
NM_024649.5(BBS1):c.433-4A>G rs2495739789
NM_024649.5(BBS1):c.433-6T>G rs2495739770
NM_024649.5(BBS1):c.433-9T>C rs2134773143
NM_024649.5(BBS1):c.453C>A (p.Thr151=)
NM_024649.5(BBS1):c.45G>A (p.Glu15=) rs767116799
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.47+12G>A rs2495726412
NM_024649.5(BBS1):c.47+15C>A rs1183292455
NM_024649.5(BBS1):c.47+16C>T rs1855921015
NM_024649.5(BBS1):c.47+19A>C
NM_024649.5(BBS1):c.47+19A>G rs970767838
NM_024649.5(BBS1):c.47+20A>C rs1250037505
NM_024649.5(BBS1):c.47+7G>A rs370342126
NM_024649.5(BBS1):c.47+7G>T rs370342126
NM_024649.5(BBS1):c.47+9A>C rs755329603
NM_024649.5(BBS1):c.47+9A>T rs755329603
NM_024649.5(BBS1):c.477C>T (p.Ile159=) rs1856031625
NM_024649.5(BBS1):c.479+16C>T rs2495740006
NM_024649.5(BBS1):c.479+7G>A rs2495739986
NM_024649.5(BBS1):c.479+9C>T rs2134773282
NM_024649.5(BBS1):c.48-10C>T rs2495727913
NM_024649.5(BBS1):c.48-13C>A rs1855930554
NM_024649.5(BBS1):c.48-13C>G
NM_024649.5(BBS1):c.48-14dup rs2495727879
NM_024649.5(BBS1):c.48-18T>C rs1855930387
NM_024649.5(BBS1):c.48-7C>T rs2134765142
NM_024649.5(BBS1):c.48-9C>G rs765571574
NM_024649.5(BBS1):c.48-9C>T rs765571574
NM_024649.5(BBS1):c.480-9T>C rs1856035253
NM_024649.5(BBS1):c.486G>T (p.Thr162=) rs779770809
NM_024649.5(BBS1):c.489A>G (p.Ala163=) rs2495740421
NM_024649.5(BBS1):c.492G>A (p.Glu164=) rs1328686332
NM_024649.5(BBS1):c.518+15G>T rs2495740513
NM_024649.5(BBS1):c.519-12C>A
NM_024649.5(BBS1):c.519-16T>G rs2495741029
NM_024649.5(BBS1):c.51T>C (p.Asn17=) rs2134765186
NM_024649.5(BBS1):c.522T>C (p.Phe174=) rs758473104
NM_024649.5(BBS1):c.528G>A (p.Gln176=) rs1320458331
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=) rs1239262010
NM_024649.5(BBS1):c.570G>A (p.Lys190=)
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.591+10C>A rs2134774008
NM_024649.5(BBS1):c.591+10C>T rs2134774008
NM_024649.5(BBS1):c.591+18T>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 rs2495752163
NM_024649.5(BBS1):c.592-11T>A rs2134780351
NM_024649.5(BBS1):c.592-13A>T
NM_024649.5(BBS1):c.592-17C>T rs2495752116
NM_024649.5(BBS1):c.592-19C>A rs757918171
NM_024649.5(BBS1):c.592-20C>T rs778903752
NM_024649.5(BBS1):c.592-5T>C rs2495752221
NM_024649.5(BBS1):c.592-6C>G rs1462048534
NM_024649.5(BBS1):c.592-6C>T rs1462048534
NM_024649.5(BBS1):c.612C>A (p.Thr204=) rs2495752391
NM_024649.5(BBS1):c.63G>A (p.Ser21=) rs2134765230
NM_024649.5(BBS1):c.651T>G (p.Ser217=) rs2495752579
NM_024649.5(BBS1):c.66G>A (p.Lys22=) rs2495728058
NM_024649.5(BBS1):c.672G>A (p.Glu224=) rs2495752745
NM_024649.5(BBS1):c.687G>A (p.Leu229=) rs752374832
NM_024649.5(BBS1):c.690G>A (p.Val230=) rs2134780572
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=) rs143592479
NM_024649.5(BBS1):c.705C>T (p.Ala235=) rs2134780617
NM_024649.5(BBS1):c.723+11G>C rs987697319
NM_024649.5(BBS1):c.723+12G>A rs1292778886
NM_024649.5(BBS1):c.723+17G>A
NM_024649.5(BBS1):c.75T>C (p.Asp25=) rs772010847
NM_024649.5(BBS1):c.84C>T (p.Tyr28=) rs771560964

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