ClinVar Miner

List of variants in gene BBS5 reported as pathogenic for Bardet-Biedl syndrome

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Total variants: 10
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HGVS dbSNP
NC_000002.12:g.(?_169492874)_(169493836_?)del
NM_152384.3(BBS5):c.123del (p.Gly42fs) rs1272140892
NM_152384.3(BBS5):c.143-1G>A
NM_152384.3(BBS5):c.166A>G (p.Arg56Gly) rs1559121920
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser) rs121908581
NM_152384.3(BBS5):c.265C>T (p.Arg89Ter) rs772757329
NM_152384.3(BBS5):c.303dup (p.Asn102Ter)
NM_152384.3(BBS5):c.413G>A (p.Arg138His) rs179363897
NM_152384.3(BBS5):c.567G>A (p.Trp189Ter)
NM_152384.3(BBS5):c.619-1G>C rs753234582

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