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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.479+2T>G	rs1353098253	0.00002
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.664G>C (p.Gly222Arg)	rs761760689	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.159+1G>A
NM_024649.5(BBS1):c.159+2del	rs1348187150
NM_024649.5(BBS1):c.160-1G>A
NM_024649.5(BBS1):c.432+1G>A	rs587777829
NM_024649.5(BBS1):c.46A>T (p.Ser16Cys)	rs772917364
NM_024649.5(BBS1):c.480-2A>C	rs1856035426
NM_024649.5(BBS1):c.723+1G>A

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