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

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Total variants: 5

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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.2310C>A (p.Phe770Leu)	rs755315398
NM_002693.3(POLG):c.2591A>T (p.Asn864Ile)	rs121918050
NM_002693.3(POLG):c.2665G>C (p.Ala889Pro)	rs763393580
NM_002693.3(POLG):c.951_961dup (p.Lys321fs)	rs1596359629

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