ClinVar Miner

List of variants in gene KIAA0586 studied for cerebellar hypoplasia-tapetoretinal degeneration syndrome

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) rs770566897

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