ClinVar Miner

List of variants in gene EXOSC9 reported as likely pathogenic for Pontocerebellar hypoplasia, type 1D

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)	rs139632595	0.00026
NM_005033.3(EXOSC9):c.481C>T (p.Arg161Ter)	rs372318863

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