List of variants in gene COQ2 reported as uncertain significance for obsolete Leigh syndrome with nephrotic syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001358921.2(COQ2):c.310G>A (p.Gly104Ser)	rs146983090	0.00054
NM_001358921.2(COQ2):c.808C>T (p.Arg270Trp)	rs886059669	0.00048
NM_001358921.2(COQ2):c.809G>A (p.Arg270Gln)	rs200217650	0.00015
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser)	rs121918232	0.00009
NM_001358921.2(COQ2):c.451G>A (p.Ala151Thr)	rs372949213	0.00007
NM_001358921.2(COQ2):c.830C>T (p.Pro277Leu)	rs374567167	0.00005
NM_001358921.2(COQ2):c.368G>A (p.Arg123His)	rs752363398	0.00003
NM_001358921.2(COQ2):c.676G>T (p.Gly226Cys)	rs553681443	0.00002
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_001358921.2(COQ2):c.1067AGA[1] (p.Lys357del)	rs765403087
NM_001358921.2(COQ2):c.254-2A>T
NM_001358921.2(COQ2):c.298G>A (p.Ala100Thr)
NM_001358921.2(COQ2):c.508G>A (p.Ala170Thr)	rs1577986966
NM_001358921.2(COQ2):c.762+1G>A
NM_001358921.2(COQ2):c.797C>G (p.Ser266Ter)
NM_001358921.2(COQ2):c.889A>G (p.Ser297Gly)

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