List of variants in gene COQ9 reported as uncertain significance for Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease 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: 24

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HGVS	dbSNP	gnomAD frequency
NM_020312.4(COQ9):c.*545G>T	rs115123016	0.00895
NM_020312.4(COQ9):c.835G>A (p.Asp279Asn)	rs76508383	0.00282
NM_020312.4(COQ9):c.74-13G>A	rs181356497	0.00140
NM_020312.4(COQ9):c.323T>G (p.Leu108Arg)	rs11547480	0.00101
NM_020312.4(COQ9):c.*622A>G	rs534696904	0.00068
NM_020312.4(COQ9):c.*492C>T	rs550304608	0.00058
NM_020312.4(COQ9):c.*378G>A	rs190372643	0.00020
NM_020312.4(COQ9):c.*168A>G	rs376172393	0.00012
NM_020312.4(COQ9):c.315G>A (p.Thr105=)	rs201238241	0.00004
NM_020312.4(COQ9):c.362T>C (p.Ile121Thr)	rs547254482	0.00002
NM_020312.4(COQ9):c.*134A>G	rs886052182	0.00001
NM_020312.4(COQ9):c.*565G>T	rs886052183	0.00001
NM_020312.4(COQ9):c.305G>A (p.Arg102His)	rs748239782	0.00001
NM_020312.4(COQ9):c.378+9A>G	rs757816546	0.00001
NM_020312.4(COQ9):c.379-9C>T	rs1189201208	0.00001
NM_020312.4(COQ9):c.679A>G (p.Met227Val)	rs748648629	0.00001
NM_020312.4(COQ9):c.812G>A (p.Arg271His)	rs774033422	0.00001
NM_020312.4(COQ9):c.*630A>G	rs886052184
NM_020312.4(COQ9):c.*74G>A	rs886052181
NM_020312.4(COQ9):c.163C>A (p.Pro55Thr)	rs899467244
NM_020312.4(COQ9):c.378+5G>T
NM_020312.4(COQ9):c.404C>T (p.Ala135Val)	rs886052180
NM_020312.4(COQ9):c.449T>C (p.Val150Ala)	rs1189027445
NM_020312.4(COQ9):c.849G>C (p.Met283Ile)	rs863223939

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