ClinVar Miner

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

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_024649.5(BBS1):c.479+2T>G rs1353098253 0.00002
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) rs193922709 0.00002
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) rs878855095 0.00001
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444 0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985 0.00001
NM_024649.5(BBS1):c.48-2A>C rs764245266 0.00001
NM_024649.5(BBS1):c.518+1G>A rs771517209 0.00001
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg) rs761760689 0.00001
NM_024649.5(BBS1):c.723+1G>C rs1295318869 0.00001
GRCh37/hg19 11q13.2(chr11:66290130-66305022)
NC_000011.9:g.(?_66281867)_(66288857_?)dup
NC_000011.9:g.(?_66290917)_(66294288_?)dup
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+1G>A
NM_024649.5(BBS1):c.159+2T>A rs1057516507
NM_024649.5(BBS1):c.159+2del rs1348187150
NM_024649.5(BBS1):c.160-1G>A
NM_024649.5(BBS1):c.17dup (p.Ser7fs) rs1166022838
NM_024649.5(BBS1):c.182del (p.Pro61fs) rs1057517007
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.223_224del (p.Leu75fs) rs1057516451
NM_024649.5(BBS1):c.319dup (p.Ala107fs) rs1856010064
NM_024649.5(BBS1):c.345dup (p.Lys116Ter) rs1555046611
NM_024649.5(BBS1):c.406C>T (p.Gln136Ter) rs1856011738
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024649.5(BBS1):c.433-2A>G rs1555046748
NM_024649.5(BBS1):c.434dup (p.Asp145fs)
NM_024649.5(BBS1):c.46A>T (p.Ser16Cys) rs772917364
NM_024649.5(BBS1):c.46dup (p.Ser16fs)
NM_024649.5(BBS1):c.47+2T>C rs1182864166
NM_024649.5(BBS1):c.47+2T>G
NM_024649.5(BBS1):c.48-1G>T rs751753112
NM_024649.5(BBS1):c.480-1G>C rs1057516933
NM_024649.5(BBS1):c.480-2A>C rs1856035426
NM_024649.5(BBS1):c.519-2A>G rs1057516502
NM_024649.5(BBS1):c.579dup (p.Ile194fs)
NM_024649.5(BBS1):c.591+1G>A
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

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