ClinVar Miner

List of variants reported as uncertain significance for Bardet-Biedl syndrome 8 by Illumina Clinical Services Laboratory,Illumina

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Total variants: 28
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HGVS dbSNP
NM_144596.4(TTC8):c.*17A>G
NM_144596.4(TTC8):c.*247T>C rs886050879
NM_144596.4(TTC8):c.*377C>T
NM_144596.4(TTC8):c.*418G>A
NM_144596.4(TTC8):c.*45A>C
NM_144596.4(TTC8):c.*57C>T
NM_144596.4(TTC8):c.*92C>T
NM_144596.4(TTC8):c.-38C>A rs886050876
NM_144596.4(TTC8):c.-44C>T rs571786285
NM_144596.4(TTC8):c.1042T>C (p.Phe348Leu)
NM_144596.4(TTC8):c.1077C>T (p.Asn359=) rs150896551
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp) rs140698625
NM_144596.4(TTC8):c.1382C>T (p.Ala461Val) rs139195149
NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala) rs376411291
NM_144596.4(TTC8):c.1463C>T (p.Ala488Val) rs199649536
NM_144596.4(TTC8):c.1491C>T (p.Asp497=) rs886050878
NM_144596.4(TTC8):c.267C>A (p.Arg89=) rs200113889
NM_144596.4(TTC8):c.275C>T (p.Thr92Met) rs886050877
NM_144596.4(TTC8):c.305C>T (p.Thr102Ile)
NM_144596.4(TTC8):c.417C>G (p.Ile139Met)
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286
NM_144596.4(TTC8):c.5G>A (p.Ser2Asn) rs199571677
NM_144596.4(TTC8):c.640G>A (p.Ala214Thr)
NM_144596.4(TTC8):c.669G>A (p.Lys223=) rs141304350
NM_144596.4(TTC8):c.800T>A (p.Val267Asp)
NM_144596.4(TTC8):c.905A>G (p.Tyr302Cys) rs370111364
NM_144596.4(TTC8):c.950A>C (p.Glu317Ala)
NM_198309.3(TTC8):c.769-11C>T rs768485587

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