ClinVar Miner

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

Included ClinVar conditions (37):
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Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP
BBS1, 1-BP DEL, 1650C
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
NM_024649.4(BBS1):c.1111-?_1695+?del
NM_024649.4(BBS1):c.592-?_830+?del
NM_024649.5(BBS1):c.-3_37del (p.Met1fs) rs113994178
NM_024649.5(BBS1):c.118del (p.Cys40fs) rs1490351829
NM_024649.5(BBS1):c.124+1G>A rs1057516449
NM_024649.5(BBS1):c.124+1G>C rs1057516449
NM_024649.5(BBS1):c.138A>G (p.Leu46=) rs1590754166
NM_024649.5(BBS1):c.157A>G (p.Lys53Glu) rs766602837
NM_024649.5(BBS1):c.158dup (p.Leu54fs) rs1313590454
NM_024649.5(BBS1):c.159+2T>A rs1057516507
NM_024649.5(BBS1):c.17dup (p.Ser7fs) rs1166022838
NM_024649.5(BBS1):c.182del (p.Pro61fs) rs1057517007
NM_024649.5(BBS1):c.190C>G (p.Gln64Glu) rs369843749
NM_024649.5(BBS1):c.194A>G (p.Gln65Arg)
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.200G>A (p.Arg67His)
NM_024649.5(BBS1):c.223_224del (p.Leu75fs) rs1057516451
NM_024649.5(BBS1):c.230T>C (p.Met77Thr)
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys) rs138744839
NM_024649.5(BBS1):c.235G>T (p.Glu79Ter)
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.316C>G (p.Leu106Val) rs137853913
NM_024649.5(BBS1):c.338A>G (p.Tyr113Cys)
NM_024649.5(BBS1):c.345dup (p.Lys116Ter) rs1555046611
NM_024649.5(BBS1):c.360C>T (p.Pro120=) rs373756451
NM_024649.5(BBS1):c.363C>A (p.Tyr121Ter)
NM_024649.5(BBS1):c.378G>A (p.Leu126=) rs2298806
NM_024649.5(BBS1):c.407A>G (p.Gln136Arg)
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) rs878855095
NM_024649.5(BBS1):c.432+13C>T rs759287238
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024649.5(BBS1):c.432+5A>G
NM_024649.5(BBS1):c.432+9_432+12del rs1555046629
NM_024649.5(BBS1):c.433-2A>G rs1555046748
NM_024649.5(BBS1):c.433-5C>T rs542052064
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444
NM_024649.5(BBS1):c.437G>A (p.Arg146Gln) rs759253107
NM_024649.5(BBS1):c.441C>T (p.Ile147=)
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985
NM_024649.5(BBS1):c.447C>T (p.Pro149=) rs763738657
NM_024649.5(BBS1):c.46A>T (p.Ser16Cys) rs772917364
NM_024649.5(BBS1):c.47+2T>C rs1182864166
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp)
NM_024649.5(BBS1):c.479+2T>G rs1353098253
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444
NM_024649.5(BBS1):c.48-1G>T rs751753112
NM_024649.5(BBS1):c.48-2A>C rs764245266
NM_024649.5(BBS1):c.48-3C>G rs869025204
NM_024649.5(BBS1):c.480-1G>C rs1057516933
NM_024649.5(BBS1):c.485C>A (p.Thr162Lys)
NM_024649.5(BBS1):c.496C>G (p.Pro166Ala)
NM_024649.5(BBS1):c.509A>G (p.Gln170Arg)
NM_024649.5(BBS1):c.518+1G>A rs771517209
NM_024649.5(BBS1):c.519-2A>G rs1057516502
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.592-7_592-5del
NM_024649.5(BBS1):c.595_598del (p.Val199fs) rs1555047409
NM_024649.5(BBS1):c.616T>G (p.Leu206Val) rs146052054
NM_024649.5(BBS1):c.636C>T (p.Asp212=) rs775900681
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg) rs761760689
NM_024649.5(BBS1):c.677A>G (p.Lys226Arg)
NM_024649.5(BBS1):c.68G>A (p.Trp23Ter)
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
Single allele

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