ClinVar Miner

List of variants in gene TTC8 studied for Bardet-Biedl syndrome

Included ClinVar conditions (37):
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Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP
NM_144596.3(TTC8):c.1049+2_1049+4del rs587777807
NM_144596.3(TTC8):c.265+1_265+2del rs1595939517
NM_144596.3(TTC8):c.624+1G>A rs587777808
NM_144596.4(TTC8):c.*17A>G
NM_144596.4(TTC8):c.*238G>A rs1048190
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.*472A>C rs59300815
NM_144596.4(TTC8):c.*493T>C
NM_144596.4(TTC8):c.*57C>T
NM_144596.4(TTC8):c.*83A>G rs147325843
NM_144596.4(TTC8):c.*92C>T
NM_144596.4(TTC8):c.*93G>A
NM_144596.4(TTC8):c.-25G>A rs7145692
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.1050G>T (p.Arg350Ser)
NM_144596.4(TTC8):c.1051C>T (p.Arg351Trp) rs755412340
NM_144596.4(TTC8):c.1077C>T (p.Asn359=) rs150896551
NM_144596.4(TTC8):c.1118C>A (p.Ala373Asp)
NM_144596.4(TTC8):c.1124A>C (p.Gln375Pro) rs774216735
NM_144596.4(TTC8):c.1147T>C (p.Phe383Leu)
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg) rs142938748
NM_144596.4(TTC8):c.1262G>C (p.Arg421Thr)
NM_144596.4(TTC8):c.1294G>A (p.Glu432Lys)
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp) rs140698625
NM_144596.4(TTC8):c.1363C>G (p.Gln455Glu)
NM_144596.4(TTC8):c.1382C>T (p.Ala461Val) rs139195149
NM_144596.4(TTC8):c.1401G>A (p.Pro467=) rs114064158
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.1464G>C (p.Ala488=) rs142073418
NM_144596.4(TTC8):c.1491C>T (p.Asp497=) rs886050878
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly) rs114557412
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.284A>G (p.Lys95Arg) rs150880478
NM_144596.4(TTC8):c.299A>G (p.Asn100Ser) rs139392523
NM_144596.4(TTC8):c.305C>T (p.Thr102Ile)
NM_144596.4(TTC8):c.357T>C (p.Ile119=) rs567203939
NM_144596.4(TTC8):c.361G>A (p.Gly121Ser) rs771327965
NM_144596.4(TTC8):c.415A>G (p.Ile139Val)
NM_144596.4(TTC8):c.417C>G (p.Ile139Met)
NM_144596.4(TTC8):c.470G>C (p.Arg157Thr) rs754686957
NM_144596.4(TTC8):c.484G>C (p.Gly162Arg) rs753150258
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286
NM_144596.4(TTC8):c.490G>A (p.Ala164Thr) rs184952059
NM_144596.4(TTC8):c.528T>C (p.Asn176=) rs1555391010
NM_144596.4(TTC8):c.589_594del (p.Glu197_Tyr198del) rs587777806
NM_144596.4(TTC8):c.5G>A (p.Ser2Asn) rs199571677
NM_144596.4(TTC8):c.607G>A (p.Glu203Lys)
NM_144596.4(TTC8):c.640G>A (p.Ala214Thr)
NM_144596.4(TTC8):c.669G>A (p.Lys223=) rs141304350
NM_144596.4(TTC8):c.701G>A (p.Cys234Tyr)
NM_144596.4(TTC8):c.727G>A (p.Glu243Lys) rs1419727328
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_144596.4(TTC8):c.988G>A (p.Ala330Thr)
NM_198309.3(TTC8):c.1402-12T>C rs79747892
NM_198309.3(TTC8):c.300-15T>A rs187484893
NM_198309.3(TTC8):c.595-5C>T rs137853922
NM_198309.3(TTC8):c.769-11C>T rs768485587

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