ClinVar Miner

List of variants in gene TTC8 reported as likely pathogenic for Bardet-Biedl syndrome 8

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_144596.4(TTC8):c.114+2T>C rs1273244823
NM_144596.4(TTC8):c.69del (p.Cys23fs) rs2094690718
NM_144596.4(TTC8):c.701G>A (p.Cys234Tyr) rs1595959305

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