ClinVar Miner

List of variants in gene TTC8 reported as likely pathogenic for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_144596.4(TTC8):c.265+1G>A rs139234943 0.00001
NM_144596.4(TTC8):c.114+2T>C rs1273244823
NM_144596.4(TTC8):c.1387del (p.His463fs) rs2141044380
NM_144596.4(TTC8):c.265+1_265+2del rs1595939517
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter) rs376035653
NM_144596.4(TTC8):c.579+5G>A rs2140977987
NM_144596.4(TTC8):c.69del (p.Cys23fs) rs2094690718
NM_144596.4(TTC8):c.701G>A (p.Cys234Tyr) rs1595959305
NM_144596.4(TTC8):c.710+1G>A rs2140999630
NM_144596.4(TTC8):c.799-1G>T
NM_144596.4(TTC8):c.799-2A>G rs771218088
NM_144596.4(TTC8):c.910-1G>A rs2141033061

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