ClinVar Miner

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

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 289
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HGVS dbSNP
NM_001165927.1(MKS1):c.1558+12C>G rs762501967
NM_001165927.1(MKS1):c.1570C>A (p.Arg524=) rs772719574
NM_001165927.1(MKS1):c.183C>G (p.Asp61Glu) rs142813109
NM_001165927.1(MKS1):c.50+168T>C rs372127517
NM_001165927.1(MKS1):c.50+325C>G rs761061379
NM_001165927.1(MKS1):c.741G>A (p.Lys247=) rs886038632
NM_001165927.1(MKS1):c.984G>A (p.Leu328=) rs201998680
NM_001178007.1(BBS12):c.-391C>T rs28642232
NM_001278293.3(ARL6):c.*470G>A rs184213166
NM_001278293.3(ARL6):c.-240C>T rs116162146
NM_001278293.3(ARL6):c.-27-1461A>T rs143739859
NM_001278293.3(ARL6):c.350-7C>T rs375454860
NM_001278293.3(ARL6):c.442T>G (p.Cys148Gly) rs148745414
NM_001278293.3(ARL6):c.536-4T>C rs201939836
NM_001365068.1(ASTN2):c.2806+25375G>C rs116058338
NM_001365068.1(ASTN2):c.2806+26079A>G rs1273018123
NM_001365068.1(ASTN2):c.2806+26367A>G rs372044621
NM_001365068.1(ASTN2):c.2806+26643C>T rs762905941
NM_001365068.1(ASTN2):c.2806+26703A>T rs1372713940
NM_001365068.1(ASTN2):c.2806+26807G>A rs3747835
NM_001365068.1(ASTN2):c.2806+26889G>A rs142715198
NM_001365068.1(ASTN2):c.2806+27222C>T rs1184553729
NM_001365068.1(ASTN2):c.2806+27234G>C rs756049046
NM_001365068.1(ASTN2):c.2806+27259G>C rs3747834
NM_001365068.1(ASTN2):c.2806+27351G>A rs398124253
NM_001365068.1(ASTN2):c.2806+27369C>G rs3747833
NM_001365068.1(ASTN2):c.2806+27471C>G rs117599771
NM_001365068.1(ASTN2):c.2806+27528C>T rs200085883
NM_001365068.1(ASTN2):c.2806+27620G>A rs200997003
NM_001365068.1(ASTN2):c.2806+27663G>C rs137947083
NM_001365068.1(ASTN2):c.2806+27753G>A rs140589523
NM_001365068.1(ASTN2):c.2806+27828A>G rs780799984
NM_001365068.1(ASTN2):c.2806+28002C>G rs201891227
NM_006642.5(SDCCAG8):c.-4G>A rs113193158
NM_006642.5(SDCCAG8):c.1094G>A (p.Arg365Lys) rs115098969
NM_006642.5(SDCCAG8):c.1380G>C (p.Gln460His) rs79762798
NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly) rs118064970
NM_006642.5(SDCCAG8):c.1474-6C>T rs376414138
NM_006642.5(SDCCAG8):c.1501G>C (p.Asp501His) rs150646039
NM_006642.5(SDCCAG8):c.1752A>G (p.Glu584=) rs1007802384
NM_006642.5(SDCCAG8):c.221-4A>G rs373526073
NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu) rs140413256
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=) rs145877279
NM_006642.5(SDCCAG8):c.307-10T>A rs371148493
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) rs150070966
NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=) rs143407309
NM_006642.5(SDCCAG8):c.744C>T (p.Asn248=) rs138449445
NM_006642.5(SDCCAG8):c.925G>A (p.Val309Ile) rs149359674
NM_006642.5(SDCCAG8):c.986C>T (p.Thr329Met) rs35859404
NM_015910.6(WDPCP):c.-396T>G rs2278718
NM_015910.7(WDPCP):c.*327G>A
NM_015910.7(WDPCP):c.-113C>A rs192963932
NM_015910.7(WDPCP):c.-188G>C rs187916591
NM_015910.7(WDPCP):c.1263A>C (p.Leu421Phe) rs189817127
NM_015910.7(WDPCP):c.1310G>T (p.Ser437Ile) rs367727948
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro) rs61734466
NM_015910.7(WDPCP):c.1356G>A (p.Lys452=) rs372258764
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln) rs544657165
NM_015910.7(WDPCP):c.1575C>T (p.Ser525=) rs375693256
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn) rs202196322
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468
NM_015910.7(WDPCP):c.220G>C (p.Gly74Arg) rs200170138
NM_015910.7(WDPCP):c.385C>G (p.Leu129Val) rs191796211
NM_015910.7(WDPCP):c.477C>T (p.Leu159=) rs774300078
NM_015910.7(WDPCP):c.60C>A (p.Ser20=) rs757553495
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867
NM_015910.7(WDPCP):c.738C>T (p.Asn246=) rs543308588
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val) rs144703991
NM_015910.7(WDPCP):c.868C>T (p.Arg290Cys) rs374934704
NM_015910.7(WDPCP):c.985G>A (p.Val329Met) rs199959383
NM_015910.7(WDPCP):c.990A>G (p.Ser330=) rs371090606
NM_017777.4(MKS1):c.*134C>T
NM_018848.3(MKKS):c.-349A>G rs140884406
NM_018848.3(MKKS):c.-649+6T>G rs377246386
NM_018848.3(MKKS):c.-871_-869dup rs143825746
NM_018848.3(MKKS):c.1462G>A (p.Ala488Thr) rs61734546
NM_018848.3(MKKS):c.1553G>A (p.Arg518His) rs149051148
NM_018848.3(MKKS):c.15A>G (p.Glu5=) rs145396188
NM_018848.3(MKKS):c.16G>A (p.Ala6Thr) rs150920905
NM_018848.3(MKKS):c.231G>A (p.Leu77=) rs373913834
NM_018848.3(MKKS):c.67A>G (p.Arg23Gly) rs147545395
NM_024649.5(BBS1):c.*219A>G
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile) rs201872547
NM_024649.5(BBS1):c.1059A>G (p.Gly353=) rs199692416
NM_024649.5(BBS1):c.1181-6C>T rs368445790
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp) rs141528309
NM_024649.5(BBS1):c.1194C>A (p.Ile398=) rs200577824
NM_024649.5(BBS1):c.1338C>T (p.Thr446=) rs368302072
NM_024649.5(BBS1):c.138A>G (p.Leu46=) rs1590754166
NM_024649.5(BBS1):c.1395C>T (p.Arg465=) rs756550025
NM_024649.5(BBS1):c.1474-8C>T rs398124402
NM_024649.5(BBS1):c.1485T>C (p.Leu495=) rs373894194
NM_024649.5(BBS1):c.1533C>T (p.Thr511=) rs112953332
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser) rs148948642
NM_024649.5(BBS1):c.1695+9C>T rs756514477
NM_024649.5(BBS1):c.1719A>G (p.Gln573=) rs150553044
NM_024649.5(BBS1):c.1773G>A (p.Ala591=) rs147783319
NM_024649.5(BBS1):c.243G>A (p.Pro81=) rs141429900
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325
NM_024649.5(BBS1):c.253C>T (p.Leu85=) rs748727758
NM_024649.5(BBS1):c.360C>T (p.Pro120=) rs373756451
NM_024649.5(BBS1):c.432+13C>T rs759287238
NM_024649.5(BBS1):c.432+9_432+12del rs1555046629
NM_024649.5(BBS1):c.54G>A (p.Glu18=) rs761128852
NM_024649.5(BBS1):c.57C>G (p.Ala19=) rs755026677
NM_024649.5(BBS1):c.616T>G (p.Leu206Val) rs146052054
NM_024649.5(BBS1):c.6C>T (p.Ala2=) rs143592479
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756
NM_024649.5(BBS1):c.723+7G>A rs770220426
NM_024649.5(BBS1):c.738C>T (p.Ser246=) rs775266312
NM_024649.5(BBS1):c.744C>T (p.Pro248=) rs528073027
NM_024649.5(BBS1):c.750C>T (p.Phe250=) rs750108791
NM_024649.5(BBS1):c.798C>G (p.Ala266=) rs1408073931
NM_024649.5(BBS1):c.840G>C (p.Lys280Asn) rs780169168
NM_024649.5(BBS1):c.951+7C>A rs780784789
NM_024649.5(BBS1):c.952-7C>G rs1590767187
NM_024649.5(BBS1):c.981C>T (p.Pro327=) rs142243482
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.1050A>G (p.Pro350=) rs370953693
NM_024685.4(BBS10):c.1158G>A (p.Leu386=) rs138702315
NM_024685.4(BBS10):c.1245T>C (p.His415=) rs147241753
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.1412A>T (p.Asp471Val) rs200718870
NM_024685.4(BBS10):c.147G>A (p.Arg49=) rs1592493118
NM_024685.4(BBS10):c.1548A>T (p.Thr516=) rs771662934
NM_024685.4(BBS10):c.1566G>A (p.Thr522=) rs1200334802
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser) rs146812823
NM_024685.4(BBS10):c.1617A>G (p.Pro539=) rs150467742
NM_024685.4(BBS10):c.1669A>G (p.Ile557Val) rs139719799
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925
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.1941T>G (p.Ser647=) rs749965019
NM_024685.4(BBS10):c.198-10T>C rs376497190
NM_024685.4(BBS10):c.2142T>G (p.Val714=) rs1463359253
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.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.440A>G (p.Gln147Arg) rs140585012
NM_024685.4(BBS10):c.462G>A (p.Leu154=) rs764687344
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.607A>G (p.Thr203Ala) rs753138845
NM_024685.4(BBS10):c.637T>C (p.Leu213=) rs367795705
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279
NM_024685.4(BBS10):c.783A>G (p.Thr261=) rs768475584
NM_024685.4(BBS10):c.861A>G (p.Gln287=) rs753223078
NM_024685.4(BBS10):c.957T>C (p.Val319=) rs139645096
NM_025114.4(CEP290):c.*19_*22del rs142288119
NM_025114.4(CEP290):c.-33G>T rs139415563
NM_025114.4(CEP290):c.1522+6C>T rs148446546
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433
NM_031885.3(BBS2):c.-199A>T rs569642995
NM_031885.3(BBS2):c.-239G>A rs2303284
NM_031885.4(BBS2):c.*13C>T rs141170836
NM_031885.4(BBS2):c.1104C>T (p.Asn368=) rs141731677
NM_031885.4(BBS2):c.111G>A (p.Thr37=) rs191867233
NM_031885.4(BBS2):c.1134A>G (p.Pro378=) rs185178790
NM_031885.4(BBS2):c.1152C>T (p.His384=) rs774493134
NM_031885.4(BBS2):c.126T>G (p.Ile42Met) rs139945733
NM_031885.4(BBS2):c.1380C>T (p.Phe460=) rs141046144
NM_031885.4(BBS2):c.1413A>C (p.Val471=) rs35294865
NM_031885.4(BBS2):c.1422G>A (p.Ser474=) rs117033008
NM_031885.4(BBS2):c.1437T>C (p.Pro479=) rs747415803
NM_031885.4(BBS2):c.1523A>C (p.Gln508Pro) rs115328064
NM_031885.4(BBS2):c.1608A>G (p.Thr536=) rs778892001
NM_031885.4(BBS2):c.1659+3A>G rs6499838
NM_031885.4(BBS2):c.1910+9T>G rs751604858
NM_031885.4(BBS2):c.30G>A (p.Leu10=) rs1258834563
NM_031885.4(BBS2):c.327G>A (p.Ser109=) rs770497817
NM_031885.4(BBS2):c.345+10A>G rs770249850
NM_031885.4(BBS2):c.472-10T>C rs138714256
NM_031885.4(BBS2):c.525A>G (p.Gly175=) rs34191306
NM_031885.4(BBS2):c.534+7G>C rs886052149
NM_031885.4(BBS2):c.537T>A (p.Leu179=) rs1450648224
NM_031885.4(BBS2):c.627T>C (p.Leu209=) rs752010652
NM_031885.4(BBS2):c.783A>C (p.Ile261=) rs183982328
NM_031885.4(BBS2):c.805-20A>G rs41280892
NM_031885.4(BBS2):c.870C>T (p.Ala290=) rs750516217
NM_031885.4(BBS2):c.984C>T (p.Leu328=) rs1285508370
NM_031885.4(BBS2):c.995G>A (p.Ser332Asn) rs199655331
NM_031885.5(BBS2):c.117G>C (p.Lys39Asn)
NM_033028.5(BBS4):c.*43G>T rs144706746
NM_033028.5(BBS4):c.*522A>G
NM_033028.5(BBS4):c.*691G>A
NM_033028.5(BBS4):c.1140G>A (p.Val380=) rs141511580
NM_033028.5(BBS4):c.1179C>T (p.Ala393=) rs780560947
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp) rs147202164
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596
NM_033028.5(BBS4):c.1548_1549del (p.Ile516fs) rs398124432
NM_033028.5(BBS4):c.208A>G (p.Ile70Val) rs142692981
NM_033028.5(BBS4):c.282A>G (p.Ala94=) rs370868102
NM_033028.5(BBS4):c.405+10G>C rs1216711857
NM_033028.5(BBS4):c.63C>T (p.Pro21=) rs267604309
NM_033028.5(BBS4):c.861G>T (p.Val287=) rs1595947650
NM_033028.5(BBS4):c.864G>A (p.Ala288=) rs141345544
NM_144596.4(TTC8):c.*83A>G rs147325843
NM_144596.4(TTC8):c.*93G>A
NM_144596.4(TTC8):c.-25G>A rs7145692
NM_144596.4(TTC8):c.1077C>T (p.Asn359=) rs150896551
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg) rs142938748
NM_144596.4(TTC8):c.1401G>A (p.Pro467=) rs114064158
NM_144596.4(TTC8):c.1463C>T (p.Ala488Val) rs199649536
NM_144596.4(TTC8):c.1464G>C (p.Ala488=) rs142073418
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly) rs114557412
NM_144596.4(TTC8):c.267C>A (p.Arg89=) rs200113889
NM_144596.4(TTC8):c.299A>G (p.Asn100Ser) rs139392523
NM_144596.4(TTC8):c.357T>C (p.Ile119=) rs567203939
NM_144596.4(TTC8):c.528T>C (p.Asn176=) rs1555391010
NM_152384.3(BBS5):c.18G>C (p.Ala6=) rs202051938
NM_152384.3(BBS5):c.462G>C (p.Leu154=) rs767240340
NM_152384.3(BBS5):c.468A>G (p.Pro156=) rs200636409
NM_152384.3(BBS5):c.516T>C (p.Ser172=) rs758562179
NM_152384.3(BBS5):c.60-3T>C rs201553380
NM_152618.3(BBS12):c.*187dup rs386401352
NM_152618.3(BBS12):c.-61G>C rs59440868
NM_152618.3(BBS12):c.1011T>C (p.Val337=) rs762298486
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823
NM_152618.3(BBS12):c.1185G>A (p.Leu395=) rs377611257
NM_152618.3(BBS12):c.1197C>T (p.His399=) rs764483162
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479
NM_152618.3(BBS12):c.1401C>T (p.Asp467=) rs1578491425
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala) rs145392789
NM_152618.3(BBS12):c.1506C>T (p.Ala502=) rs144855583
NM_152618.3(BBS12):c.1590A>G (p.Leu530=) rs886059059
NM_152618.3(BBS12):c.1980G>A (p.Pro660=) rs778953866
NM_152618.3(BBS12):c.2100T>C (p.Asn700=) rs145847043
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser) rs143960329
NM_152618.3(BBS12):c.21C>T (p.Val7=) rs754702110
NM_152618.3(BBS12):c.237C>T (p.Asn79=) rs373273487
NM_152618.3(BBS12):c.243T>C (p.Tyr81=) rs772942987
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser) rs77731085
NM_152618.3(BBS12):c.60A>G (p.Ser20=) rs759975718
NM_152618.3(BBS12):c.63A>T (p.Ser21=) rs776279953
NM_152618.3(BBS12):c.66C>T (p.Phe22=) rs150546366
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082
NM_152618.3(BBS12):c.75A>G (p.Thr25=) rs754811440
NM_152618.3(BBS12):c.882T>C (p.Tyr294=) rs766149148
NM_152618.3(BBS12):c.906C>A (p.Gly302=) rs557013132
NM_152618.3(BBS12):c.978T>A (p.Thr326=) rs115635198
NM_176824.3(BBS7):c.1158A>G (p.Thr386=) rs146617227
NM_176824.3(BBS7):c.1235A>G (p.Asp412Gly) rs111442398
NM_176824.3(BBS7):c.1512-7A>T rs115987385
NM_176824.3(BBS7):c.1806C>G (p.Val602=) rs752970955
NM_176824.3(BBS7):c.192G>A (p.Pro64=) rs775906320
NM_176824.3(BBS7):c.280A>T (p.Thr94Ser) rs202102193
NM_198309.3(TTC8):c.595-5C>T rs137853922
NM_198428.3(BBS9):c.*444G>A rs75625812
NM_198428.3(BBS9):c.-305T>G rs112060099
NM_198428.3(BBS9):c.1029A>G (p.Gly343=) rs35195153
NM_198428.3(BBS9):c.1245C>T (p.Val415=) rs61764066
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724
NM_198428.3(BBS9):c.1284C>T (p.Thr428=) rs6964382
NM_198428.3(BBS9):c.1538-9G>T rs770317221
NM_198428.3(BBS9):c.1560G>A (p.Pro520=) rs779586578
NM_198428.3(BBS9):c.1606C>T (p.Leu536=) rs576401162
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299
NM_198428.3(BBS9):c.1767T>C (p.Thr589=) rs534722075
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu) rs34209904
NM_198428.3(BBS9):c.195C>T (p.Ala65=) rs373063776
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072
NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn) rs149362446
NM_198428.3(BBS9):c.2214C>T (p.Ile738=) rs148536971
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val) rs61764068
NM_198428.3(BBS9):c.2299-20A>C rs17727583
NM_198428.3(BBS9):c.2322C>T (p.Ala774=) rs145435891
NM_198428.3(BBS9):c.2336T>A (p.Leu779Gln) rs142434516
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe) rs61753526
NM_198428.3(BBS9):c.2460C>T (p.Ser820=) rs142563811
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) rs146752751
NM_198428.3(BBS9):c.2538C>T (p.Ile846=) rs376692708
NM_198428.3(BBS9):c.2632+9C>A rs148654647
NM_198428.3(BBS9):c.2646C>A (p.Leu882=) rs61753527
NM_198428.3(BBS9):c.621C>T (p.Tyr207=) rs140169161
NM_198428.3(BBS9):c.666T>A (p.Thr222=) rs145385875
NM_198428.3(BBS9):c.678A>G (p.Lys226=) rs201231133
NM_198428.3(BBS9):c.887-7C>T rs376333670

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