List of variants in gene BBS1 reported as pathogenic for Bardet-Biedl syndrome 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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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.118del (p.Cys40fs)	rs1490351829	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.124+1G>A	rs1057516449
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.363C>A (p.Tyr121Ter)	rs1856010874
NM_024649.5(BBS1):c.382C>T (p.Gln128Ter)	rs2134771570
NM_024649.5(BBS1):c.432+1G>A	rs587777829
NM_024649.5(BBS1):c.47+1G>T	rs1475257145
NM_024649.5(BBS1):c.48-1G>A	rs751753112
NM_024649.5(BBS1):c.48-3C>G	rs869025204
NM_024649.5(BBS1):c.480-1G>C	rs1057516933
NM_024649.5(BBS1):c.607del (p.Thr202_Met203insTer)	rs2134780429
NM_024649.5(BBS1):c.68G>A (p.Trp23Ter)	rs778850233

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