ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 8 by New York Genome Center

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly) rs114557412 0.00354
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp) rs140698625 0.00064
NM_144596.4(TTC8):c.1051C>T (p.Arg351Trp) rs755412340 0.00006
NM_144596.4(TTC8):c.1042T>C (p.Phe348Leu) rs200086953 0.00002
NM_144596.4(TTC8):c.1420A>G (p.Ile474Val) rs1244721977 0.00001
NM_144596.4(TTC8):c.104C>A (p.Pro35His) rs2094691079
NM_144596.4(TTC8):c.425C>T (p.Pro142Leu)
NM_144596.4(TTC8):c.798+256T>C

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