ClinVar Miner

List of variants in gene KIAA0586 reported as likely pathogenic for Joubert syndrome 23

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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NM_001329943.3(KIAA0586):c.2944+4A>C rs372841738
NM_001329943.3(KIAA0586):c.3781+2T>C rs1331480187
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684
NM_001329943.3(KIAA0586):c.4032del (p.Arg1344fs) rs886039809
NM_001329943.3(KIAA0586):c.4076_4077CT[2] (p.Met1362fs) rs867342730

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