ClinVar Miner

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

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Total variants: 50
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HGVS dbSNP
NM_144596.3(TTC8):c.1049+2_1049+4del rs587777807
NM_144596.4(TTC8):c.1050G>T (p.Arg350Ser)
NM_144596.4(TTC8):c.1063A>T (p.Met355Leu)
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.113A>G (p.Gln38Arg)
NM_144596.4(TTC8):c.114+6G>C
NM_144596.4(TTC8):c.1147T>C (p.Phe383Leu)
NM_144596.4(TTC8):c.1215T>G (p.His405Gln)
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg) rs142938748
NM_144596.4(TTC8):c.1262G>C (p.Arg421Thr)
NM_144596.4(TTC8):c.1276AAC[5] (p.Asn429dup)
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.1401G>A (p.Pro467=) rs114064158
NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala) rs376411291
NM_144596.4(TTC8):c.1432A>T (p.Ile478Phe)
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.194A>G (p.Asp65Gly) rs114557412
NM_144596.4(TTC8):c.267C>A (p.Arg89=) rs200113889
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) rs150880478
NM_144596.4(TTC8):c.293G>A (p.Gly98Glu)
NM_144596.4(TTC8):c.299A>G (p.Asn100Ser) rs139392523
NM_144596.4(TTC8):c.355A>G (p.Ile119Val)
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.380C>A (p.Thr127Lys)
NM_144596.4(TTC8):c.386G>A (p.Ser129Asn)
NM_144596.4(TTC8):c.415A>G (p.Ile139Val)
NM_144596.4(TTC8):c.433G>A (p.Ala145Thr) rs540856754
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.488C>T (p.Thr163Met)
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.4A>G (p.Ser2Gly)
NM_144596.4(TTC8):c.528T>C (p.Asn176=) rs1555391010
NM_144596.4(TTC8):c.607G>A (p.Glu203Lys)
NM_144596.4(TTC8):c.669G>A (p.Lys223=) rs141304350
NM_144596.4(TTC8):c.715G>C (p.Gly239Arg)
NM_144596.4(TTC8):c.727G>A (p.Glu243Lys) rs1419727328
NM_144596.4(TTC8):c.83C>A (p.Thr28Lys)
NM_144596.4(TTC8):c.855A>C (p.Leu285Phe)
NM_144596.4(TTC8):c.874G>A (p.Val292Ile)
NM_144596.4(TTC8):c.909G>C (p.Glu303Asp)
NM_144596.4(TTC8):c.988G>A (p.Ala330Thr)
NM_198309.3(TTC8):c.595-5C>T rs137853922

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