ClinVar Miner

List of variants reported as pathogenic for Progressive sclerosing poliodystrophy by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	rs113994097	0.00081
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	rs113994098	0.00028

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