ClinVar Miner

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

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Gene type:
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Total variants: 5
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NM_152384.3(BBS5):c.18G>C (p.Ala6=) rs202051938
NM_152384.3(BBS5):c.462G>C (p.Leu154=) rs767240340
NM_152384.3(BBS5):c.468A>G (p.Pro156=) rs200636409
NM_152384.3(BBS5):c.516T>C (p.Ser172=) rs758562179
NM_152384.3(BBS5):c.60-3T>C rs201553380

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