ClinVar Miner

List of variants in gene CTC1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_025099.6(CTC1):c.3604C>T (p.Arg1202Ter) rs147714487 0.00118
NM_025099.6(CTC1):c.2522G>A (p.Arg841His) rs780358670 0.00049
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln) rs201891953 0.00048
NM_025099.6(CTC1):c.1564C>T (p.Arg522Trp) rs199698527 0.00032
NM_025099.6(CTC1):c.3463A>G (p.Ile1155Val) rs571554235 0.00022
NM_025099.6(CTC1):c.3515-10C>T rs200225342 0.00022
NM_025099.6(CTC1):c.2345G>C (p.Gly782Ala) rs530949904 0.00018
NM_025099.6(CTC1):c.3605G>A (p.Arg1202Gln) rs778830884 0.00008
NM_025099.6(CTC1):c.3222-4A>G rs562479062 0.00004
NM_025099.6(CTC1):c.1625G>A (p.Arg542Gln) rs776684484 0.00003
NM_025099.6(CTC1):c.3169C>T (p.Arg1057Cys) rs376349076 0.00002
NM_025099.6(CTC1):c.363G>A (p.Ser121=) rs770555372 0.00002
NM_025099.6(CTC1):c.1673A>G (p.Glu558Gly) rs371121503 0.00001
NM_025099.6(CTC1):c.1870C>T (p.Arg624Trp) rs759039504 0.00001
NM_025099.6(CTC1):c.2329G>C (p.Glu777Gln) rs753665719 0.00001
NM_025099.6(CTC1):c.2972A>G (p.Tyr991Cys) rs1471047572 0.00001
NM_025099.6(CTC1):c.485G>A (p.Arg162His) rs199966003 0.00001
NM_025099.6(CTC1):c.79C>G (p.Leu27Val) rs369069450 0.00001
NM_025099.6(CTC1):c.*3198G>T rs568877108
NM_025099.6(CTC1):c.1667AAG[2] (p.Glu558del) rs756079894
NM_025099.6(CTC1):c.2048A>C (p.Lys683Thr) rs2151510866
NM_025099.6(CTC1):c.2164C>T (p.Pro722Ser) rs770505786
NM_025099.6(CTC1):c.265AGT[3] (p.Ser90dup) rs879863262
NM_025099.6(CTC1):c.2843T>G (p.Val948Gly) rs2151503717
NM_025099.6(CTC1):c.3222-9T>A rs2151499132
NM_025099.6(CTC1):c.3333C>T (p.Val1111=) rs2151498663
NM_025099.6(CTC1):c.3456C>T (p.Leu1152=) rs2151497808
NM_025099.6(CTC1):c.397C>G (p.Leu133Val) rs1597389239
NM_025099.6(CTC1):c.416C>G (p.Thr139Ser) rs2151531295
NM_025099.6(CTC1):c.556G>C (p.Val186Leu) rs185346402
NM_025099.6(CTC1):c.615C>T (p.Tyr205=) rs571035242
NM_025099.6(CTC1):c.926T>C (p.Leu309Pro) rs1555534628

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