ClinVar Miner

List of variants in gene BBS5 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_152384.3(BBS5):c.620G>A (p.Arg207His) rs35487251 0.00625
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921 0.00380
NM_152384.3(BBS5):c.750C>T (p.Ile250=) rs76138485 0.00188
NM_152384.3(BBS5):c.751A>G (p.Asn251Asp) rs143113298 0.00086
NM_152384.3(BBS5):c.516T>C (p.Ser172=) rs758562179 0.00006
NM_152384.3(BBS5):c.190T>C (p.Leu64=) rs777369461 0.00005
NM_152384.3(BBS5):c.966dup (p.Ala323fs) rs1553529427

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