ClinVar Miner

List of variants in gene BBS1 studied for Bardet-Biedl syndrome 1

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.-72C>G rs1791688 0.99902
NM_024649.5(BBS1):c.518+55C>T rs2276406 0.21160
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.-3A>G rs549210746 0.00019
NM_024649.5(BBS1):c.200G>A (p.Arg67His) rs145718265 0.00014
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.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.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.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.684C>T (p.Leu228=) rs764202615 0.00003
NM_024649.5(BBS1):c.169G>C (p.Gly57Arg) rs1355873337 0.00002
NM_024649.5(BBS1):c.243G>A (p.Pro81=) rs141429900 0.00002
NM_024649.5(BBS1):c.329C>A (p.Pro110His) rs750288768 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.479+2T>G rs1353098253 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.10G>T (p.Ala4Ser) rs745375133 0.00001
NM_024649.5(BBS1):c.118del (p.Cys40fs) rs1490351829 0.00001
NM_024649.5(BBS1):c.157A>G (p.Lys53Glu) rs766602837 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.33C>A (p.Ala11=) rs1336755113 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.433-5C>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.447C>T (p.Pro149=) rs763738657 0.00001
NM_024649.5(BBS1):c.48-2A>C rs764245266 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.518+1G>A rs771517209 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.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.708C>G (p.Phe236Leu) rs1482951221 0.00001
NM_024649.5(BBS1):c.723+1G>C rs1295318869 0.00001
NM_024649.5(BBS1):c.723+7G>A rs770220426 0.00001
NM_024649.5(BBS1):c.124+1G>A rs1057516449
NM_024649.5(BBS1):c.124+1G>C rs1057516449
NM_024649.5(BBS1):c.130del (p.Ala44fs) rs2134765690
NM_024649.5(BBS1):c.158dup (p.Leu54fs) rs1313590454
NM_024649.5(BBS1):c.159+2T>A rs1057516507
NM_024649.5(BBS1):c.159+2del rs1348187150
NM_024649.5(BBS1):c.17dup (p.Ser7fs) rs1166022838
NM_024649.5(BBS1):c.182del (p.Pro61fs) rs1057517007
NM_024649.5(BBS1):c.198C>T (p.Pro66=) rs1856007679
NM_024649.5(BBS1):c.1A>C (p.Met1Leu) rs1306821707
NM_024649.5(BBS1):c.1A>T (p.Met1Leu) rs1306821707
NM_024649.5(BBS1):c.214A>T (p.Lys72Ter) rs1856007963
NM_024649.5(BBS1):c.217G>T (p.Gly73Ter) rs1012901050
NM_024649.5(BBS1):c.223_224del (p.Leu75fs) rs1057516451
NM_024649.5(BBS1):c.227T>A (p.Val76Glu) rs2134771309
NM_024649.5(BBS1):c.277C>T (p.Leu93Phe) rs2134771383
NM_024649.5(BBS1):c.299G>A (p.Arg100Gln)
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.338A>G (p.Tyr113Cys) rs753517084
NM_024649.5(BBS1):c.345dup (p.Lys116Ter) rs1555046611
NM_024649.5(BBS1):c.363C>A (p.Tyr121Ter) rs1856010874
NM_024649.5(BBS1):c.382C>T (p.Gln128Ter) rs2134771570
NM_024649.5(BBS1):c.406C>T (p.Gln136Ter) rs1856011738
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024649.5(BBS1):c.432+9_432+12del rs1555046629
NM_024649.5(BBS1):c.433-2A>G rs1555046748
NM_024649.5(BBS1):c.434dup (p.Asp145fs)
NM_024649.5(BBS1):c.46dup (p.Ser16fs)
NM_024649.5(BBS1):c.47+1G>T rs1475257145
NM_024649.5(BBS1):c.47+2T>C rs1182864166
NM_024649.5(BBS1):c.47+2T>G
NM_024649.5(BBS1):c.48-1G>A rs751753112
NM_024649.5(BBS1):c.48-1G>T rs751753112
NM_024649.5(BBS1):c.48-3C>G rs869025204
NM_024649.5(BBS1):c.480-1G>C rs1057516933
NM_024649.5(BBS1):c.480-28G>C
NM_024649.5(BBS1):c.485C>A (p.Thr162Lys) rs148576114
NM_024649.5(BBS1):c.519-2A>G rs1057516502
NM_024649.5(BBS1):c.579dup (p.Ile194fs)
NM_024649.5(BBS1):c.57C>G (p.Ala19=) rs755026677
NM_024649.5(BBS1):c.591+1G>A
NM_024649.5(BBS1):c.592-7_592-5del rs774944051
NM_024649.5(BBS1):c.607del (p.Thr202_Met203insTer) rs2134780429
NM_024649.5(BBS1):c.634G>A (p.Asp212Asn) rs2134780459
NM_024649.5(BBS1):c.677A>G (p.Lys226Arg) rs1856141438
NM_024649.5(BBS1):c.68G>A (p.Trp23Ter) rs778850233
NM_024649.5(BBS1):c.700G>T (p.Glu234Ter) rs35520756
NM_024649.5(BBS1):c.70_73del (p.Leu24fs)
NM_024649.5(BBS1):c.71T>A (p.Leu24Ter) rs1855932058
NM_024649.5(BBS1):c.723+1G>A
NM_024649.5(BBS1):c.723+2T>C
NM_024649.5(BBS1):c.723+2T>G
NM_024649.5(BBS1):c.77C>T (p.Ala26Val) rs866558676

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