ClinVar Miner

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

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Total variants: 10
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NM_152384.3(BBS5):c.108C>T (p.Ser36=) rs16823066
NM_152384.3(BBS5):c.190T>C (p.Leu64=) rs777369461
NM_152384.3(BBS5):c.285C>T (p.Leu95=) rs6752540
NM_152384.3(BBS5):c.39C>G (p.Val13=) rs10188609
NM_152384.3(BBS5):c.501T>A (p.Val167=) rs75690869
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly) rs143191074
NM_152384.3(BBS5):c.620G>A (p.Arg207His) rs35487251
NM_152384.3(BBS5):c.750C>T (p.Ile250=) rs76138485
NM_152384.3(BBS5):c.817-5T>G rs780213701

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