ClinVar Miner

List of variants studied for Peroxisome biogenesis disorder 7A (Zellweger) by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 124
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127649.3(PEX26):c.*2281T>C rs362209 0.99208
NM_001127649.3(PEX26):c.*2051A>G rs361946 0.88398
NM_001127649.3(PEX26):c.*987T>C rs361807 0.88380
NM_001127649.3(PEX26):c.*1265T>A rs456551 0.52154
NM_001127649.3(PEX26):c.*167G>A rs464385 0.52045
NM_001127649.3(PEX26):c.*1590G>A rs5992169 0.10823
NM_001127649.3(PEX26):c.*1669C>G rs112015789 0.10796
NM_001127649.3(PEX26):c.*917C>T rs9605518 0.10773
NM_001127649.3(PEX26):c.-318A>G rs62239019 0.10068
NM_001127649.3(PEX26):c.*1635G>C rs361703 0.09478
NM_001127649.3(PEX26):c.*1623G>T rs114698763 0.06369
NM_001127649.3(PEX26):c.*754A>G rs114146293 0.03730
NM_001127649.3(PEX26):c.*2878C>T rs116424707 0.02655
NM_001127649.3(PEX26):c.*1608G>A rs116824049 0.02602
NM_001127649.3(PEX26):c.*1003T>G rs79085553 0.02437
NM_001127649.3(PEX26):c.*2701G>C rs114075265 0.02360
NM_001127649.3(PEX26):c.*1627G>T rs1056492732 0.01991
NM_001127649.3(PEX26):c.*400C>T rs74988725 0.01840
NM_001127649.3(PEX26):c.*692T>C rs79936154 0.01840
NM_001127649.3(PEX26):c.*943G>A rs79785382 0.01835
NM_001127649.3(PEX26):c.-363G>C rs138787474 0.01598
NM_017929.5(PEX26):c.-148C>T rs115617644 0.01576
NM_001127649.3(PEX26):c.*464A>G rs141229564 0.01278
NM_001127649.3(PEX26):c.*10C>T rs117472525 0.01244
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val) rs12484657 0.01096
NM_001127649.3(PEX26):c.*1778C>T rs79447039 0.01095
NM_001127649.3(PEX26):c.*1957G>A rs11913772 0.01094
NM_001127649.3(PEX26):c.*2162G>A rs45489191 0.00688
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe) rs150895887 0.00683
NM_001127649.3(PEX26):c.*2311G>T rs74714634 0.00524
NM_001127649.3(PEX26):c.*925A>G rs115277831 0.00523
NM_001127649.3(PEX26):c.815-13C>T rs139370593 0.00381
NM_001127649.3(PEX26):c.*954T>C rs188986907 0.00307
NM_001127649.3(PEX26):c.*828C>T rs551641353 0.00287
NM_001127649.3(PEX26):c.*279G>A rs147096782 0.00208
NM_001127649.3(PEX26):c.325T>C (p.Tyr109His) rs45567240 0.00190
NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser) rs201884779 0.00179
NM_001127649.3(PEX26):c.409G>C (p.Val137Leu) rs142648687 0.00179
NM_001127649.3(PEX26):c.*1156T>C rs565644082 0.00171
NM_001127649.3(PEX26):c.*1194G>A rs118188952 0.00171
NM_001127649.3(PEX26):c.*1720G>A rs749348676 0.00134
NM_001127649.3(PEX26):c.911G>A (p.Arg304His) rs17851387 0.00121
NM_001127649.3(PEX26):c.*113G>A rs199653646 0.00101
NM_001127649.3(PEX26):c.*133C>T rs200243782 0.00099
NM_001127649.3(PEX26):c.*439C>G rs148217514 0.00096
NM_001127649.3(PEX26):c.728C>T (p.Ala243Val) rs149153003 0.00083
NM_001127649.3(PEX26):c.*1922C>T rs181819830 0.00078
NM_001127649.3(PEX26):c.*2195A>G rs565621911 0.00074
NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys) rs138232280 0.00063
NM_001127649.3(PEX26):c.*2449C>T rs140919342 0.00058
NM_001127649.3(PEX26):c.*2810G>C rs781588186 0.00046
NM_001127649.3(PEX26):c.667+8A>G rs200880379 0.00046
NM_001127649.3(PEX26):c.*1509C>G rs571401889 0.00039
NM_001127649.3(PEX26):c.*2386C>G rs148534099 0.00032
NM_001127649.3(PEX26):c.*578A>G rs150745941 0.00031
NM_001127649.3(PEX26):c.*977C>T rs181706274 0.00029
NM_001127649.3(PEX26):c.*114C>T rs45500699 0.00028
NM_001127649.3(PEX26):c.*2339G>A rs772852627 0.00027
NM_001127649.3(PEX26):c.198C>T (p.Ala66=) rs374290931 0.00026
NM_001127649.3(PEX26):c.207C>T (p.Ala69=) rs375516973 0.00026
NM_001127649.3(PEX26):c.*280G>A rs188897908 0.00021
NM_001127649.3(PEX26):c.*1152G>C rs886057252 0.00016
NM_001127649.3(PEX26):c.-381C>T rs561094254 0.00016
NM_001127649.3(PEX26):c.*36G>A rs202010734 0.00015
NM_001127649.3(PEX26):c.*1684T>C rs886057255 0.00013
NM_001127649.3(PEX26):c.*2308A>T rs775281083 0.00012
NM_001127649.3(PEX26):c.571C>T (p.Arg191Trp) rs150451390 0.00011
NM_001127649.3(PEX26):c.98C>T (p.Pro33Leu) rs368118099 0.00010
NM_001127649.3(PEX26):c.*122A>C rs753279674 0.00006
NM_001127649.3(PEX26):c.*2479G>A rs537299090 0.00006
NM_001127649.3(PEX26):c.*566T>C rs541332240 0.00006
NM_001127649.3(PEX26):c.29C>T (p.Ala10Val) rs768425084 0.00006
NM_001127649.3(PEX26):c.*1618G>C rs1358815707 0.00005
NM_001127649.3(PEX26):c.*1171G>A rs184116244 0.00004
NM_001127649.3(PEX26):c.*2369C>G rs971100485 0.00004
NM_001127649.3(PEX26):c.32C>T (p.Pro11Leu) rs200279475 0.00004
NM_001127649.3(PEX26):c.*2155A>G rs773334209 0.00003
NM_001127649.3(PEX26):c.*662C>T rs1197932567 0.00003
NM_017929.5(PEX26):c.-203G>A rs544836312 0.00003
NM_001127649.3(PEX26):c.*1631G>T rs886057254 0.00002
NM_001127649.3(PEX26):c.*2651C>T rs963146393 0.00002
NM_001127649.3(PEX26):c.*2768C>T rs886057260 0.00002
NM_001127649.3(PEX26):c.*812C>T rs886057250 0.00002
NM_001127649.3(PEX26):c.153C>A (p.Phe51Leu) rs777633990 0.00002
NM_001127649.3(PEX26):c.208G>T (p.Val70Leu) rs766581207 0.00002
NM_001127649.3(PEX26):c.709C>T (p.Arg237Cys) rs575612663 0.00002
NM_001127649.3(PEX26):c.*1493C>G rs1926993500 0.00001
NM_001127649.3(PEX26):c.*1928A>C rs905337330 0.00001
NM_001127649.3(PEX26):c.*2285C>T rs886057257 0.00001
NM_001127649.3(PEX26):c.*2370T>A rs571008916 0.00001
NM_001127649.3(PEX26):c.*2604G>C rs983170194 0.00001
NM_001127649.3(PEX26):c.*2724G>C rs58564536 0.00001
NM_001127649.3(PEX26):c.554C>T (p.Ala185Val) rs370147115 0.00001
NM_001127649.3(PEX26):c.889C>T (p.Arg297Cys) rs780701336 0.00001
NM_017929.5(PEX26):c.-167C>T rs886057244 0.00001
NM_001127649.3(PEX26):c.*112C>T rs761715161
NM_001127649.3(PEX26):c.*1136G>A rs886057251
NM_001127649.3(PEX26):c.*1283C>T rs73876563
NM_001127649.3(PEX26):c.*1488T>C rs1926993079
NM_001127649.3(PEX26):c.*1639G>T rs12484897
NM_001127649.3(PEX26):c.*1740C>G rs139987168
NM_001127649.3(PEX26):c.*1859A>C rs146739242
NM_001127649.3(PEX26):c.*1957G>T rs11913772
NM_001127649.3(PEX26):c.*2282G>A rs183054849
NM_001127649.3(PEX26):c.*2452G>C rs886057258
NM_001127649.3(PEX26):c.*2523C>T rs752154886
NM_001127649.3(PEX26):c.*2647G>A rs886057259
NM_001127649.3(PEX26):c.*2703G>A rs186314626
NM_001127649.3(PEX26):c.*2904T>C rs555003472
NM_001127649.3(PEX26):c.*533A>C rs886057247
NM_001127649.3(PEX26):c.*568G>A rs886057248
NM_001127649.3(PEX26):c.*802A>G rs1046921426
NM_001127649.3(PEX26):c.*829A>G rs362057
NM_001127649.3(PEX26):c.*829A>T rs362057
NM_001127649.3(PEX26):c.*944C>A rs78412274
NM_001127649.3(PEX26):c.-375G>A rs752393777
NM_001127649.3(PEX26):c.-80C>T rs1926378615
NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro) rs61752132
NM_001127649.3(PEX26):c.230+8C>T rs886057245
NM_001127649.3(PEX26):c.2T>C (p.Met1Thr) rs74315506
NM_001127649.3(PEX26):c.625G>T (p.Glu209Ter) rs886057246
NM_001127649.3(PEX26):c.814+15C>T rs1926797835
NM_017929.5(PEX26):c.-164G>T rs1926353199
NM_017929.5(PEX26):c.-207T>C rs905580400

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.