ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 8 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_144596.4(TTC8):c.701G>A (p.Cys234Tyr) rs1595959305
NM_144596.4(TTC8):c.79dup (p.Cys27fs)
NM_144596.4(TTC8):c.946A>C (p.Lys316Gln)

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