ClinVar Miner

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

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Total variants: 5
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HGVS dbSNP
GRCh38/hg38 2q31.1(chr2:169498679-169508441)
NC_000002.12:g.169504481_169504487del
NM_152384.3(BBS5):c.143-1G>C rs1054138918
NM_152384.3(BBS5):c.532G>A (p.Gly178Arg) rs786205636
NM_152384.3(BBS5):c.817-1G>A rs1466289570

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