ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
Download table as spreadsheet
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.-25C>G rs547268811 0.00217
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.-27G>C rs538493869 0.00111
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.71C>T (p.Pro24Leu) rs578214371 0.00052
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.20C>T (p.Ser7Phe) rs1198499357 0.00004
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.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.73G>A (p.Val25Met) rs2030153941
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.