List of variants studied for obsolete Leigh syndrome with nephrotic syndrome by Baylor Genetics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_020381.4(PDSS2):c.667G>A (p.Val223Ile)	rs35555197	0.00130
NM_020381.4(PDSS2):c.1046G>A (p.Arg349Gln)	rs201388841	0.00027
NM_001358921.2(COQ2):c.440G>A (p.Arg147His)	rs121918231	0.00003
NM_001358921.2(COQ2):c.889A>T (p.Ser297Cys)	rs566845170	0.00002
NM_001358921.2(COQ2):c.491G>A (p.Gly164Glu)	rs1208562247	0.00001
NM_001358921.2(COQ2):c.925G>T (p.Ala309Ser)	rs771166601	0.00001
NM_020381.4(PDSS2):c.700A>G (p.Lys234Glu)	rs372737420	0.00001
NM_015697.9(COQ2):c.97C>T (p.His33Tyr)	rs1735431555
NM_020381.4(PDSS2):c.1151C>A (p.Ala384Asp)	rs1236270228
NM_020381.4(PDSS2):c.837G>A (p.Met279Ile)	rs753476156

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