ClinVar Miner

List of variants in gene KIAA0586 reported as likely pathogenic for Joubert syndrome

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_001329943.3(KIAA0586):c.2944+4A>C rs372841738
NM_001329943.3(KIAA0586):c.3781+2T>C rs1331480187
NM_014749.5(KIAA0586):c.3848_3849CT[2] (p.Met1286fs) rs867342730

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