ClinVar Miner

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

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_144596.4(TTC8):c.265+1G>A rs139234943 0.00001
NM_144596.4(TTC8):c.624+1G>A rs587777808 0.00001
NM_144596.4(TTC8):c.915del (p.Met305fs) rs1431207606 0.00001
NC_000014.8:g.(?_89319295)_(89319420_?)del
NM_144596.4(TTC8):c.1021C>T (p.Gln341Ter) rs2141033426
NM_144596.4(TTC8):c.1029_1032dup (p.Ala345fs)
NM_144596.4(TTC8):c.1049+2_1049+4del rs587777807
NM_144596.4(TTC8):c.106dup (p.Tyr36fs) rs2094691095
NM_144596.4(TTC8):c.112C>T (p.Gln38Ter)
NM_144596.4(TTC8):c.114+1G>T
NM_144596.4(TTC8):c.114+2T>C rs1273244823
NM_144596.4(TTC8):c.256C>T (p.Gln86Ter)
NM_144596.4(TTC8):c.266-2A>G rs2140976096
NM_144596.4(TTC8):c.293del (p.Gly98fs) rs1271312946
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter) rs376035653
NM_144596.4(TTC8):c.572del (p.Leu191fs)
NM_144596.4(TTC8):c.589_594del (p.Glu197_Tyr198del) rs587777806
NM_144596.4(TTC8):c.600dup (p.His201fs)
NM_144596.4(TTC8):c.674G>A (p.Trp225Ter) rs2140999501
NM_144596.4(TTC8):c.677G>A (p.Trp226Ter)
NM_144596.4(TTC8):c.699del (p.Lys233fs)
NM_144596.4(TTC8):c.901_905del (p.Arg300_Ile301insTer)
NM_144596.4(TTC8):c.936del (p.Glu313fs)
NM_198309.3:c.(768+1_769-1)_(879+1_880-1)del

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