ClinVar Miner

List of variants reported as likely pathogenic for PISD-related mitochondrial disease by Clinical Genetics Research Group, University of Calgary

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001326411.2(PISD):c.830G>A (p.Arg277Gln)	rs147371584	0.00017
NM_001326411.2(PISD):c.697+5G>A	rs1603393478

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