ClinVar Miner

List of variants studied for Joubert syndrome 13

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_001082538.3(TCTN1):c.473-10T>A rs12307716 0.02637
NM_001082538.3(TCTN1):c.894C>T (p.Leu298=) rs16940927 0.01924
NM_001082538.3(TCTN1):c.1396G>T (p.Gly466Cys) rs118096349 0.01517
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509 0.00723
NM_001082538.3(TCTN1):c.220+12G>C rs76843552 0.00719
NM_001082538.3(TCTN1):c.-46G>C rs538932401 0.00473
NM_001082538.3(TCTN1):c.1387T>C (p.Trp463Arg) rs114568905 0.00194
NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe) rs201894544 0.00146
NM_001082538.3(TCTN1):c.298G>A (p.Val100Met) rs145478892 0.00073
NM_001082538.3(TCTN1):c.1291G>C (p.Val431Leu) rs188817098 0.00071
NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr) rs117896500 0.00066
NM_001082538.3(TCTN1):c.934G>A (p.Val312Ile) rs118057448 0.00051
NM_001082538.3(TCTN1):c.960C>T (p.Cys320=) rs145970332 0.00051
NM_001082538.3(TCTN1):c.327A>G (p.Ser109=) rs140230455 0.00046
NM_001082538.3(TCTN1):c.1676C>T (p.Ala559Val) rs373723058 0.00019
NM_001082538.2(TCTN1):c.-140A>G rs886048956 0.00016
NM_001082538.3(TCTN1):c.14G>A (p.Gly5Asp) rs572300029 0.00014
NM_001082538.3(TCTN1):c.987C>T (p.Tyr329=) rs371066430 0.00013
NM_001082538.3(TCTN1):c.341+1G>A rs200241085 0.00006
NM_001082538.3(TCTN1):c.880C>T (p.Leu294=) rs371899538 0.00006
NM_001082538.3(TCTN1):c.940G>A (p.Ala314Thr) rs199529768 0.00005
NM_001082538.3(TCTN1):c.-14G>A rs762612208 0.00004
NM_001082538.3(TCTN1):c.644C>A (p.Thr215Asn) rs545613207 0.00004
NM_001082538.3(TCTN1):c.864C>T (p.Ser288=) rs759380913 0.00004
NM_001082538.3(TCTN1):c.1282C>T (p.Arg428Trp) rs572643772 0.00003
NM_001082538.3(TCTN1):c.211G>A (p.Val71Ile) rs776696098 0.00003
NM_001082538.3(TCTN1):c.1271T>C (p.Leu424Pro) rs751036661 0.00002
NM_001082538.3(TCTN1):c.1301G>A (p.Gly434Asp) rs747091094 0.00002
NM_001082538.3(TCTN1):c.574T>A (p.Tyr192Asn) rs370252911 0.00002
NM_001082538.2(TCTN1):c.-84T>C rs886048957 0.00001
NM_001082538.3(TCTN1):c.26_29dup (p.Val11fs) rs1275375836 0.00001
NM_001082538.3(TCTN1):c.343G>A (p.Gly115Ser) rs776322884 0.00001
NM_001082538.3(TCTN1):c.344G>A (p.Gly115Asp) rs2065841782 0.00001
NM_001082538.3(TCTN1):c.543A>T (p.Thr181=) rs780200746 0.00001
NM_001082538.3(TCTN1):c.689T>C (p.Leu230Pro) rs1225241777 0.00001
NM_001082538.3(TCTN1):c.736A>T (p.Lys246Ter) rs748215804 0.00001
NM_001082538.3(TCTN1):c.898C>T (p.Arg300Ter) rs751962801 0.00001
NM_001082538.3(TCTN1):c.956T>G (p.Leu319Arg) rs762127242 0.00001
NM_001082538.3(TCTN1):c.1170T>A (p.Ala390=) rs903743304
NM_001082538.3(TCTN1):c.1171G>A (p.Gly391Arg) rs1566001519
NM_001082538.3(TCTN1):c.1279G>A (p.Val427Ile) rs560599144
NM_001082538.3(TCTN1):c.1385dup (p.Trp463fs) rs2136171586
NM_001082538.3(TCTN1):c.1418del (p.Pro473fs) rs757348545
NM_001082538.3(TCTN1):c.1454G>A (p.Trp485Ter) rs1593376626
NM_001082538.3(TCTN1):c.1494+1G>A rs1165243207
NM_001082538.3(TCTN1):c.1635+1G>A
NM_001082538.3(TCTN1):c.1685T>C (p.Phe562Ser) rs1277761197
NM_001082538.3(TCTN1):c.1769C>T (p.Pro590Leu)
NM_001082538.3(TCTN1):c.221-2A>G rs367543065
NM_001082538.3(TCTN1):c.224C>T (p.Ala75Val)
NM_001082538.3(TCTN1):c.32_43del (p.Val11_Leu14del) rs2135826994
NM_001082538.3(TCTN1):c.342-2A>G rs730882221
NM_001082538.3(TCTN1):c.364C>A (p.Gln122Lys) rs886048958
NM_001082538.3(TCTN1):c.378_381dup (p.Ser128fs)
NM_001082538.3(TCTN1):c.580del (p.Ser194fs) rs2136006298
NM_001082538.3(TCTN1):c.794C>G (p.Ala265Gly) rs1457836773
NM_001082538.3(TCTN1):c.802A>G (p.Ser268Gly) rs771495390
NM_001082538.3(TCTN1):c.843+1del rs797046039

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