ClinVar Miner

List of variants reported as likely pathogenic for cerebellar hypoplasia-tapetoretinal degeneration syndrome by NIHR Bioresource Rare Diseases, University of Cambridge

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.3(PMM2):c.584A>G (p.His195Arg) rs1596489887
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) rs770566897

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