ClinVar Miner

List of variants in gene COQ9 studied for Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_020312.4(COQ9):c.*490T>C rs223870 0.97315
NM_020312.4(COQ9):c.*456C>A rs223869 0.11358
NM_020312.4(COQ9):c.102G>A (p.Pro34=) rs223864 0.02864
NM_020312.4(COQ9):c.*411C>T rs112075830 0.01875
NM_020312.4(COQ9):c.864G>C (p.Lys288Asn) rs61730662 0.01873
NM_020312.4(COQ9):c.921+13C>T rs115677652 0.01317
NM_020312.4(COQ9):c.*545G>T rs115123016 0.00954
NM_020312.4(COQ9):c.379-16G>C rs62037144 0.00309
NM_020312.4(COQ9):c.835G>A (p.Asp279Asn) rs76508383 0.00282
NM_020312.4(COQ9):c.826C>T (p.Arg276Trp) rs143587648 0.00272
NM_020312.4(COQ9):c.625C>G (p.Leu209Val) rs78846023 0.00217
NM_020312.4(COQ9):c.921+11C>A rs75908124 0.00146
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 0.00072
NM_020312.4(COQ9):c.*100C>T rs373048666 0.00071
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.240C>G (p.Pro80=) rs2301773 0.00003
NM_020312.4(COQ9):c.362T>C (p.Ile121Thr) rs547254482 0.00002
NM_020312.4(COQ9):c.730C>T (p.Arg244Ter) rs267606751 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.337G>A (p.Ala113Thr) rs377307935 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.522-1G>A rs747898678 0.00001
NM_020312.4(COQ9):c.679A>G (p.Met227Val) rs748648629 0.00001
NM_020312.4(COQ9):c.*630A>G rs886052184
NM_020312.4(COQ9):c.*74G>A rs886052181
NM_020312.4(COQ9):c.157C>T (p.Gln53Ter)
NM_020312.4(COQ9):c.163C>A (p.Pro55Thr) rs899467244
NM_020312.4(COQ9):c.184C>T (p.His62Tyr) rs757251412
NM_020312.4(COQ9):c.197_198del (p.Gln66fs)
NM_020312.4(COQ9):c.262G>T (p.Glu88Ter)
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.521+1del rs786205897
NM_020312.4(COQ9):c.679_680del (p.Met227fs)
NM_020312.4(COQ9):c.74-2A>G rs752219939
NM_020312.4(COQ9):c.79C>G (p.Arg27Gly) rs140264612
NM_020312.4(COQ9):c.812G>A (p.Arg271His) rs774033422
NM_020312.4(COQ9):c.849G>C (p.Met283Ile) rs863223939

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