ClinVar Miner

List of variants in gene TCTN3 reported as pathogenic for Joubert syndrome

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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NM_015631.6(TCTN3):c.1423_1429del (p.Arg475fs) rs1589613893
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile) rs745688122
NM_015631.6(TCTN3):c.940G>A (p.Gly314Arg) rs793888508

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