ClinVar Miner

List of variants in gene TCTN1 reported as uncertain significance for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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NM_001082538.2(TCTN1):c.-140A>G rs886048956
NM_001082538.2(TCTN1):c.-84T>C rs886048957
NM_001082538.3(TCTN1):c.-46G>C rs538932401
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509
NM_001082538.3(TCTN1):c.1291G>C (p.Val431Leu) rs188817098
NM_001082538.3(TCTN1):c.14G>A (p.Gly5Asp) rs572300029
NM_001082538.3(TCTN1):c.1522C>T (p.Leu508Phe) rs1016934113
NM_001082538.3(TCTN1):c.1676C>T (p.Ala559Val) rs373723058
NM_001082538.3(TCTN1):c.211G>A (p.Val71Ile) rs776696098
NM_001082538.3(TCTN1):c.232T>C (p.Cys78Arg) rs1565956183
NM_001082538.3(TCTN1):c.298G>A (p.Val100Met) rs145478892
NM_001082538.3(TCTN1):c.305T>G (p.Phe102Cys)
NM_001082538.3(TCTN1):c.327A>G (p.Ser109=) rs140230455
NM_001082538.3(TCTN1):c.364C>A (p.Gln122Lys) rs886048958
NM_001082538.3(TCTN1):c.574T>A (p.Tyr192Asn) rs370252911
NM_001082538.3(TCTN1):c.890C>T (p.Thr297Met) rs200460700
NM_001082538.3(TCTN1):c.960C>T (p.Cys320=) rs145970332
NM_001082538.3(TCTN1):c.987C>T (p.Tyr329=) rs371066430

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