ClinVar Miner

List of variants studied for Peroxisome biogenesis disorder 11A (Zellweger) by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_002618.4(PEX13):c.*358G>A rs1177230 0.98833
NM_002618.4(PEX13):c.*2147A>G rs2564097 0.66023
NM_002618.4(PEX13):c.*952C>T rs56739127 0.29127
NM_002618.4(PEX13):c.*1194G>A rs75205376 0.13689
NM_002618.4(PEX13):c.1078C>G (p.Leu360Val) rs74350038 0.02423
NM_002618.4(PEX13):c.*775G>A rs143032208 0.02272
NM_002618.4(PEX13):c.*1652G>A rs72877535 0.01126
NM_002618.4(PEX13):c.*1943G>A rs183689971 0.00973
NM_002618.4(PEX13):c.674A>G (p.Asp225Gly) rs116059308 0.00690
NM_002618.4(PEX13):c.*2356T>C rs139999174 0.00416
NM_144709.4(PUS10):c.-16+254C>G rs147461642 0.00345
NM_002618.4(PEX13):c.*956G>T rs141215166 0.00300
NM_002618.4(PEX13):c.*383A>T rs149099359 0.00290
NM_002618.4(PEX13):c.*944C>T rs148184159 0.00287
NM_002618.4(PEX13):c.*3012A>G rs144691386 0.00283
NM_002618.4(PEX13):c.*1724A>T rs137932203 0.00282
NM_002618.4(PEX13):c.*3106T>C rs148515938 0.00183
NM_002618.4(PEX13):c.355G>A (p.Val119Ile) rs147707348 0.00181
NM_002618.4(PEX13):c.893T>C (p.Met298Thr) rs138545154 0.00110
NM_002618.4(PEX13):c.*357T>C rs138236564 0.00108
NM_002618.4(PEX13):c.*1961T>C rs771587917 0.00102
NM_002618.4(PEX13):c.*216T>C rs146980377 0.00063
NM_002618.4(PEX13):c.*1649C>T rs1042646135 0.00047
NM_002618.4(PEX13):c.*1998T>C rs559684247 0.00046
NM_002618.4(PEX13):c.791G>C (p.Ser264Thr) rs145568490 0.00043
NM_002618.4(PEX13):c.*263A>T rs558525565 0.00040
NM_002618.4(PEX13):c.*1416G>T rs573040186 0.00039
NM_002618.4(PEX13):c.*1377G>A rs536283006 0.00035
NM_002618.4(PEX13):c.*446A>G rs554737021 0.00034
NM_002618.4(PEX13):c.*803A>G rs561112537 0.00030
NM_002618.4(PEX13):c.*90A>G rs535967834 0.00030
NM_002618.4(PEX13):c.*962G>A rs931059778 0.00029
NM_002618.4(PEX13):c.*2495A>T rs777198802 0.00023
NM_002618.4(PEX13):c.*3126A>G rs745626475 0.00017
NM_002618.4(PEX13):c.856G>A (p.Val286Ile) rs201699810 0.00017
NM_002618.4(PEX13):c.*2159T>C rs886056206 0.00016
NM_002618.4(PEX13):c.*813G>C rs781689721 0.00014
NM_002618.4(PEX13):c.*1174A>T rs182453488 0.00012
NM_002618.4(PEX13):c.*1376C>T rs927046080 0.00012
NM_002618.4(PEX13):c.*2296G>A rs886056208 0.00011
NM_144709.4(PUS10):c.-16+255C>T rs200847026 0.00011
NM_002618.4(PEX13):c.*1005C>A rs375607663 0.00009
NM_002618.4(PEX13):c.*2229C>T rs1048932355 0.00009
NM_002618.4(PEX13):c.*851A>G rs917019488 0.00009
NM_002618.4(PEX13):c.338T>C (p.Leu113Pro) rs202077756 0.00009
NM_002618.4(PEX13):c.*170C>G rs77041272 0.00005
NM_002618.4(PEX13):c.*2550G>A rs544817238 0.00004
NM_002618.4(PEX13):c.*3038A>T rs886056211 0.00004
NM_002618.4(PEX13):c.*1283C>G rs886056201 0.00003
NM_002618.4(PEX13):c.*1564C>G rs886056203 0.00003
NM_002618.4(PEX13):c.*1566A>T rs886056204 0.00003
NM_002618.4(PEX13):c.*2368T>C rs1033146733 0.00003
NM_002618.4(PEX13):c.*2642T>C rs886056209 0.00003
NM_002618.4(PEX13):c.199A>C (p.Ser67Arg) rs752073595 0.00003
NM_002618.4(PEX13):c.269A>G (p.Tyr90Cys) rs200928725 0.00003
NM_002618.4(PEX13):c.*1533G>C rs886056202 0.00002
NM_002618.4(PEX13):c.*1925C>T rs1050392536 0.00002
NM_002618.4(PEX13):c.*2422T>G rs958254103 0.00002
NM_002618.4(PEX13):c.*3050C>T rs1246216348 0.00002
NM_002618.4(PEX13):c.1136C>T (p.Ser379Phe) rs758388660 0.00002
NM_002618.4(PEX13):c.260A>G (p.Asn87Ser) rs367843599 0.00002
NM_002618.4(PEX13):c.931C>T (p.Arg311Cys) rs376720470 0.00002
NM_002618.4(PEX13):c.932G>A (p.Arg311His) rs147344836 0.00002
NM_002618.4(PEX13):c.*2168A>T rs886056207 0.00001
NM_002618.4(PEX13):c.*2234A>G rs1358607905 0.00001
NM_002618.4(PEX13):c.*2581A>T rs895620341 0.00001
NM_002618.4(PEX13):c.*2749C>G rs888853893 0.00001
NM_002618.4(PEX13):c.*298G>C rs886056199 0.00001
NM_002618.4(PEX13):c.*3216C>G rs780132052 0.00001
NM_002618.4(PEX13):c.*895C>T rs979509871 0.00001
NM_002618.4(PEX13):c.*953G>A rs1339051481 0.00001
NM_002618.4(PEX13):c.1070A>G (p.Asn357Ser) rs144300539 0.00001
NM_002618.4(PEX13):c.1158G>A (p.Lys386=) rs371789976 0.00001
NM_002618.4(PEX13):c.581G>A (p.Arg194Gln) rs761487103 0.00001
NM_002618.4(PEX13):c.*1480C>G rs1680773967
NM_002618.4(PEX13):c.*1654T>G rs1680777877
NM_002618.4(PEX13):c.*2111A>C rs1680786136
NM_002618.4(PEX13):c.*2236A>C rs146108177
NM_002618.4(PEX13):c.*233G>T rs886056198
NM_002618.4(PEX13):c.*2537T>C rs1680795269
NM_002618.4(PEX13):c.*2918A>G rs1680801956
NM_002618.4(PEX13):c.*318G>C rs1573562372
NM_002618.4(PEX13):c.*436T>C rs1680757708
NM_002618.4(PEX13):c.*676A>G rs886056200
NM_002618.4(PEX13):c.193A>G (p.Ser65Gly) rs886056196
NM_002618.4(PEX13):c.26C>G (p.Pro9Arg) rs764069625
NM_002618.4(PEX13):c.32C>A (p.Pro11His) rs564528921
NM_002618.4(PEX13):c.32C>T (p.Pro11Leu) rs564528921
NM_002618.4(PEX13):c.417A>G (p.Ala139=) rs886056197
NM_002618.4(PEX13):c.89T>C (p.Phe30Ser) rs771610641
NM_002618.4(PEX13):c.980C>T (p.Pro327Leu) rs1680745521
NM_144709.4(PUS10):c.-16+260C>T rs886056195

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