ClinVar Miner

List of variants in gene TTC8 reported as benign for Bardet-Biedl syndrome

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Total variants: 7
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HGVS dbSNP
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg) rs142938748
NM_144596.4(TTC8):c.1401G>A (p.Pro467=) rs114064158
NM_144596.4(TTC8):c.1464G>C (p.Ala488=) rs142073418
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly) rs114557412
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) rs150880478
NM_144596.4(TTC8):c.669G>A (p.Lys223=) rs141304350
NM_198309.3(TTC8):c.595-5C>T rs137853922

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