List of variants in gene BBS7 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: 17

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HGVS	dbSNP	gnomAD frequency
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg)	rs754579374	0.00004
NM_176824.3(BBS7):c.1786G>A (p.Glu596Lys)	rs1233058112	0.00001
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro)	rs889417696	0.00001
NC_000004.11:g.(?_122749645)_(122750373_?)del
NM_176824.3(BBS7):c.102+1G>T
NM_176824.3(BBS7):c.103-268_112del
NM_176824.3(BBS7):c.1305+1G>A
NM_176824.3(BBS7):c.1305+2T>A
NM_176824.3(BBS7):c.1306-1_1308del
NM_176824.3(BBS7):c.1371+1G>A	rs1578537379
NM_176824.3(BBS7):c.1512-1G>A	rs2149054421
NM_176824.3(BBS7):c.166-2A>G
NM_176824.3(BBS7):c.1677-490_1804del	rs1578522416
NM_176824.3(BBS7):c.1786+1G>T	rs1560638613
NM_176824.3(BBS7):c.1786+2T>C
NM_176824.3(BBS7):c.1891-2A>C	rs1057519027
NM_176824.3(BBS7):c.688T>C (p.Trp230Arg)

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