List of variants in gene COQ9 reported as pathogenic for Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_020312.4(COQ9):c.197_198del (p.Gln66fs)	rs1491334480	0.00003
NM_020312.4(COQ9):c.711+3G>C	rs368777580	0.00003
NM_020312.4(COQ9):c.730C>T (p.Arg244Ter)	rs267606751	0.00002
NM_020312.4(COQ9):c.679_680del (p.Met227fs)	rs751556970	0.00001
NM_020312.4(COQ9):c.157C>T (p.Gln53Ter)	rs2543566429
NM_020312.4(COQ9):c.521+1del	rs786205897

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