ClinVar Miner

List of variants reported as pathogenic for Progressive sclerosing poliodystrophy by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.75G>A (p.Trp25Ter)	rs1021719232	0.00001
NM_002693.3(POLG):c.951_961dup (p.Lys321fs)	rs1596359629

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