ClinVar Miner

List of variants in gene TTLL5 reported by GeneDx

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Gene type:
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_015072.5(TTLL5):c.1709-7T>C rs2359870 0.99609
NM_015072.5(TTLL5):c.1187-56G>T rs2288141 0.66272
NM_015072.5(TTLL5):c.446C>T (p.Ala149Val) rs2303345 0.48575
NM_015072.5(TTLL5):c.3800T>C (p.Phe1267Ser) rs1133834 0.30514
NM_015072.5(TTLL5):c.3498G>A (p.Leu1166=) rs3742764 0.13480
NM_015072.5(TTLL5):c.2016-74G>A rs17783198 0.10565
NM_015072.5(TTLL5):c.2136+6G>C rs45480992 0.10133
NM_015072.5(TTLL5):c.265-63T>C rs1477464 0.09139
NM_015072.5(TTLL5):c.934+45A>G rs17783174 0.04401
NM_015072.5(TTLL5):c.2388-12T>C rs72725608 0.02584
NM_015072.5(TTLL5):c.502+69T>G rs77074815 0.02384
NM_015072.5(TTLL5):c.1396-22T>C rs77593112 0.02130
NM_015072.5(TTLL5):c.2516-61A>G rs45622233 0.01757
NM_015072.5(TTLL5):c.75-3T>C rs117173802 0.01615
NM_015072.5(TTLL5):c.2232C>T (p.Arg744=) rs2288143 0.01345
NM_015072.5(TTLL5):c.181+23A>G rs147225754 0.01247
NM_015072.5(TTLL5):c.2872A>G (p.Thr958Ala) rs148677697 0.01233
NM_015072.5(TTLL5):c.3522+74G>A rs9919890 0.00987
NM_015072.5(TTLL5):c.265-47G>T rs147917101 0.00973
NM_015072.5(TTLL5):c.2637A>C (p.Leu879Phe) rs146036604 0.00396
NM_015072.5(TTLL5):c.264+1G>A rs1163242822 0.00001
NM_015072.5(TTLL5):c.1124+68del rs5809726
NM_015072.5(TTLL5):c.2136+72del rs57636956
NM_015072.5(TTLL5):c.3339_3340del (p.Gly1115fs) rs1595168879
NM_015072.5(TTLL5):c.3522+73G>A rs867363324
NM_015072.5(TTLL5):c.3522+73_3522+74insAAAAAAAA rs869278134
NM_015072.5(TTLL5):c.3522+74_3522+75insA rs1298428665
NM_015072.5(TTLL5):c.3667G>T (p.Ala1223Ser) rs10130991
NM_015072.5(TTLL5):c.366T>A (p.Phe122Leu)

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