ClinVar Miner

List of variants reported as uncertain significance for Joubert syndrome 13

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Total variants: 34
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HGVS dbSNP gnomAD frequency
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.934G>A (p.Val312Ile) rs118057448 0.00051
NM_001082538.3(TCTN1):c.960C>T (p.Cys320=) rs145970332 0.00051
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.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.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.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.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.1418del (p.Pro473fs) rs757348545
NM_001082538.3(TCTN1):c.1685T>C (p.Phe562Ser) rs1277761197
NM_001082538.3(TCTN1):c.1769C>T (p.Pro590Leu)
NM_001082538.3(TCTN1):c.224C>T (p.Ala75Val)
NM_001082538.3(TCTN1):c.364C>A (p.Gln122Lys) rs886048958
NM_001082538.3(TCTN1):c.794C>G (p.Ala265Gly) rs1457836773
NM_001082538.3(TCTN1):c.802A>G (p.Ser268Gly) rs771495390

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