ClinVar Miner

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

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Gene type:
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Total variants: 16
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NM_152384.3(BBS5):c.203A>G (p.Asn68Ser) rs754978707
NM_152384.3(BBS5):c.25G>C (p.Glu9Gln)
NM_152384.3(BBS5):c.32G>A (p.Arg11Gln)
NM_152384.3(BBS5):c.365C>T (p.Thr122Ile)
NM_152384.3(BBS5):c.475C>T (p.His159Tyr)
NM_152384.3(BBS5):c.542T>C (p.Phe181Ser) rs758508869
NM_152384.3(BBS5):c.593A>G (p.Asn198Ser)
NM_152384.3(BBS5):c.689G>A (p.Gly230Glu)
NM_152384.3(BBS5):c.751A>G (p.Asn251Asp) rs143113298
NM_152384.3(BBS5):c.808G>A (p.Glu270Lys)
NM_152384.3(BBS5):c.814A>G (p.Lys272Glu)
NM_152384.3(BBS5):c.844G>A (p.Glu282Lys)
NM_152384.3(BBS5):c.92T>C (p.Ile31Thr)
NM_152384.3(BBS5):c.935G>A (p.Arg312His)

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