ClinVar Miner

List of variants studied for Zellweger spectrum disorders by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.883-3T>C rs9986447 0.36088
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr) rs76708142 0.02223
NM_002857.4(PEX19):c.879T>C (p.Gly293=) rs74125561 0.01375
NM_000466.3(PEX1):c.812A>G (p.Asn271Ser) rs138183109 0.00874
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys) rs112822975 0.00803
NM_004813.4(PEX16):c.*65T>C rs16938413 0.00789
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_000286.3(PEX12):c.867C>T (p.Asp289=) rs138720627 0.00647
NM_004565.3(PEX14):c.873C>T (p.His291=) rs115117459 0.00516
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser) rs201884779 0.00179
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg) rs61736380 0.00172
NM_002857.4(PEX19):c.346+14A>G rs77156017 0.00133
NM_000287.4(PEX6):c.1480-5C>T rs376473597 0.00126
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala) rs77261230 0.00105
NM_004565.3(PEX14):c.575C>G (p.Ala192Gly) rs147706488 0.00070
NM_000466.3(PEX1):c.-43T>G rs572810743 0.00058
NM_002857.4(PEX19):c.-4C>T rs201541204 0.00053
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_004565.3(PEX14):c.78G>A (p.Glu26=) rs144664869 0.00047
NM_002617.4(PEX10):c.418G>C (p.Gly140Arg) rs76530653 0.00045
NM_004813.4(PEX16):c.695-6C>T rs372182266 0.00036
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly) rs182452430 0.00032
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala) rs185181696 0.00029
NM_004565.3(PEX14):c.416G>A (p.Arg139Gln) rs147683525 0.00029
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser) rs754130942 0.00028
NM_004813.4(PEX16):c.461A>G (p.Asp154Gly) rs140695185 0.00026
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000287.3(PEX6):c.-79C>T rs186587060 0.00024
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro) rs778791031 0.00024
NM_004565.3(PEX14):c.18G>C (p.Gln6His) rs200395336 0.00019
NM_001127649.3(PEX26):c.716T>C (p.Leu239Pro) rs757411841 0.00018
NM_000287.4(PEX6):c.1081A>G (p.Thr361Ala) rs146025917 0.00016
NM_000287.4(PEX6):c.617G>A (p.Gly206Glu) rs139093654 0.00016
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile) rs141510219 0.00016
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn) rs143273433 0.00014
NM_000466.3(PEX1):c.3283G>A (p.Asp1095Asn) rs753699011 0.00014
NM_002617.4(PEX10):c.275G>A (p.Arg92His) rs375649043 0.00014
NM_000287.4(PEX6):c.2534T>C (p.Ile845Thr) rs61753226 0.00013
NM_001127649.3(PEX26):c.501G>A (p.Val167=) rs201666490 0.00013
NM_004813.4(PEX16):c.877C>T (p.Arg293Cys) rs544053792 0.00013
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418 0.00011
NM_000288.4(PEX7):c.903+1G>C rs148591292 0.00011
NM_001127649.3(PEX26):c.571C>T (p.Arg191Trp) rs150451390 0.00011
NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr) rs200413804 0.00010
NM_000287.4(PEX6):c.2783G>A (p.Arg928His) rs201265954 0.00010
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238 0.00010
NM_002617.4(PEX10):c.485G>A (p.Arg162Gln) rs756297578 0.00010
NM_002618.4(PEX13):c.278A>G (p.Tyr93Cys) rs200211896 0.00009
NM_003630.3(PEX3):c.798A>T (p.Glu266Asp) rs182665934 0.00009
NM_004565.3(PEX14):c.1013A>G (p.Asp338Gly) rs201120958 0.00007
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) rs61752123 0.00006
NM_000466.3(PEX1):c.2057A>G (p.Gln686Arg) rs201016626 0.00006
NM_000466.3(PEX1):c.2750C>T (p.Ala917Val) rs371327573 0.00006
NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln) rs535271603 0.00006
NM_001351132.2(PEX5):c.230G>A (p.Arg77His) rs780957318 0.00006
NM_002617.4(PEX10):c.814_815del (p.Leu272fs) rs61752093 0.00006
NM_002618.4(PEX13):c.677G>A (p.Arg226Gln) rs775953595 0.00006
NM_003846.3(PEX11B):c.464G>A (p.Arg155Gln) rs369527712 0.00006
NM_002857.4(PEX19):c.40G>C (p.Ala14Pro) rs747627762 0.00005
NM_003846.3(PEX11B):c.767G>A (p.Arg256Gln) rs200919340 0.00005
NM_000287.4(PEX6):c.1150A>C (p.Lys384Gln) rs769388552 0.00004
NM_000466.3(PEX1):c.2675G>A (p.Gly892Glu) rs769356901 0.00004
NM_001127649.3(PEX26):c.572G>A (p.Arg191Gln) rs750749018 0.00004
NM_000286.3(PEX12):c.126+1G>T rs144259891 0.00003
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter) rs61752103 0.00003
NM_000287.4(PEX6):c.1195G>A (p.Ala399Thr) rs564483086 0.00003
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val) rs62641232 0.00003
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151 0.00003
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291 0.00003
NM_000466.3(PEX1):c.254G>A (p.Gly85Glu) rs771224088 0.00003
NM_000466.3(PEX1):c.721T>C (p.Ser241Pro) rs753823218 0.00003
NM_003846.3(PEX11B):c.572G>A (p.Arg191Gln) rs376116716 0.00003
NM_000286.3(PEX12):c.352A>G (p.Met118Val) rs773708442 0.00002
NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp) rs267608230 0.00002
NM_000287.4(PEX6):c.2080G>A (p.Val694Ile) rs562698757 0.00002
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241 0.00002
NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) rs773922257 0.00002
NM_002617.4(PEX10):c.600+1G>A rs267608183 0.00002
NM_002618.4(PEX13):c.589C>T (p.Arg197Trp) rs903847229 0.00002
NM_002618.4(PEX13):c.595T>A (p.Leu199Ile) rs565873587 0.00002
NM_000286.3(PEX12):c.856G>A (p.Val286Ile) rs766182813 0.00001
NM_000287.4(PEX6):c.1236G>A (p.Val412=) rs1196012985 0.00001
NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln) rs746117128 0.00001
NM_000287.4(PEX6):c.1958C>T (p.Ser653Leu) rs267608228 0.00001
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) rs267608246 0.00001
NM_000287.4(PEX6):c.2854C>T (p.Leu952=) rs767430981 0.00001
NM_000287.4(PEX6):c.719C>G (p.Ala240Gly) rs372269200 0.00001
NM_000288.4(PEX7):c.129G>C (p.Ala43=) rs1256466654 0.00001
NM_000288.4(PEX7):c.188+1G>C rs267608254 0.00001
NM_000288.4(PEX7):c.554T>C (p.Val185Ala) rs1424846175 0.00001
NM_000288.4(PEX7):c.803+4C>G rs759745913 0.00001
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) rs61752124 0.00001
NM_000318.3(PEX2):c.482G>A (p.Gly161Glu) rs761177481 0.00001
NM_000318.3(PEX2):c.782A>G (p.His261Arg) rs749956542 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000466.3(PEX1):c.2926+4A>G rs749060853 0.00001
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) rs149806989 0.00001
NM_001351132.2(PEX5):c.1870G>A (p.Asp624Asn) rs201963167 0.00001
NM_002617.4(PEX10):c.338T>C (p.Leu113Pro) rs757778155 0.00001
NM_002617.4(PEX10):c.838C>T (p.Arg280Cys) rs750424221 0.00001
NM_002617.4(PEX10):c.977G>A (p.Arg326His) rs140890506 0.00001
NM_004565.3(PEX14):c.1081G>A (p.Val361Met) rs1041756834 0.00001
NM_000286.3(PEX12):c.-26G>A rs727504080
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) rs61752106
NM_000286.3(PEX12):c.888_889del (p.Leu297fs) rs398123301
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile) rs61753224
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) rs763514968
NM_000288.4(PEX7):c.904-1G>A rs1413838301
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro) rs370483961
NM_000466.3(PEX1):c.1901-14T>C rs1792111444
NM_000466.3(PEX1):c.2085_2089del (p.Met695fs) rs267608178
NM_000466.3(PEX1):c.273+1G>A rs1554376597
NM_000466.3(PEX1):c.2859dup (p.Thr954fs) rs1057517472
NM_000466.3(PEX1):c.357+1G>T rs866144313
NM_000466.3(PEX1):c.358-1G>T rs1057517479
NM_000466.3(PEX1):c.358-2A>C rs1057517500
NM_000466.3(PEX1):c.3622del (p.Arg1208fs) rs1791174009
NM_000466.3(PEX1):c.56_80del (p.Val19fs) rs1793398751
NM_001351132.2(PEX5):c.135_147+33delinsC rs2135880243
NM_002617.4(PEX10):c.740A>G (p.Lys247Arg) rs1553231833
NM_002618.4(PEX13):c.89T>C (p.Phe30Ser) rs771610641
NM_002857.4(PEX19):c.115C>T (p.Pro39Ser) rs144256391
NM_002857.4(PEX19):c.181-15A>G rs114403769

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