ClinVar Miner

List of variants reported as likely pathogenic for Pontocerebellar hypoplasia type 1A by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_003384.3(VRK1):c.216+1G>C rs774518440 0.00002

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