ClinVar Miner

List of variants reported as benign for Zellweger spectrum disorders by Illumina Laboratory Services, Illumina

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 161
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HGVS dbSNP gnomAD frequency
NM_001127649.3(PEX26):c.*2281T>C rs362209 0.99208
NM_002618.4(PEX13):c.*358G>A rs1177230 0.98833
NM_000318.3(PEX2):c.*1194A>G rs4311633 0.98172
NM_000318.3(PEX2):c.*2377A>G rs4388434 0.94963
NM_000318.3(PEX2):c.*727T>C rs4610720 0.94956
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_001127649.3(PEX26):c.*2051A>G rs361946 0.88398
NM_001127649.3(PEX26):c.*987T>C rs361807 0.88380
NM_000466.3(PEX1):c.358-15G>A rs38809 0.86650
NM_000286.3(PEX12):c.-428T>C rs321600 0.84193
NM_003630.3(PEX3):c.*319A>T rs223234 0.81061
NM_004813.4(PEX16):c.873T>C (p.Tyr291=) rs1132349 0.79011
NM_002617.4(PEX10):c.291A>G (p.Thr97=) rs2494598 0.74152
NM_002618.4(PEX13):c.*2147A>G rs2564097 0.66023
NM_057174.2(PEX16):c.*434G>A rs2280329 0.60761
NM_000287.4(PEX6):c.2814G>A (p.Glu938=) rs1129186 0.56758
NM_004813.4(PEX16):c.*303C>T rs10838529 0.53226
NM_001127649.3(PEX26):c.*1265T>A rs456551 0.52154
NM_001127649.3(PEX26):c.*167G>A rs464385 0.52045
NM_000288.4(PEX7):c.*306T>G rs1050803 0.51106
NM_003630.3(PEX3):c.942-13A>G rs161058 0.51037
NM_000318.3(PEX2):c.*2663T>A rs28435921 0.50526
NM_002857.4(PEX19):c.*2156C>G rs10594 0.44938
NM_001351132.2(PEX5):c.*755C>G rs1057225 0.44145
NM_000287.3(PEX6):c.-55C>T rs9462859 0.40581
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858 0.40569
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln) rs1129187 0.40479
NM_000286.3(PEX12):c.*517A>G rs1046321 0.37640
NM_000286.3(PEX12):c.*836G>C rs10068 0.36472
NM_000287.4(PEX6):c.883-3T>C rs9986447 0.36088
NM_002618.4(PEX13):c.*952C>T rs56739127 0.29127
NM_002617.4(PEX10):c.*173G>A rs1129171 0.27656
NM_004565.3(PEX14):c.156C>T (p.Phe52=) rs12375 0.25602
NM_000318.3(PEX2):c.-164C>A rs12718 0.21609
NM_000286.3(PEX12):c.*166C>A rs1037590 0.20532
NM_004565.3(PEX14):c.384+14A>T rs284238 0.19360
NM_003630.3(PEX3):c.*546A>G rs10809 0.15859
NM_001351132.2(PEX5):c.*141G>A rs3813737 0.14722
NM_002618.4(PEX13):c.*1194G>A rs75205376 0.13689
NM_004565.3(PEX14):c.1032G>T (p.Gly344=) rs11539794 0.13336
NM_000288.4(PEX7):c.-56C>T rs73777751 0.11791
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_002617.4(PEX10):c.913-4G>A rs11586985 0.08566
NM_001351132.2(PEX5):c.-17+290T>A rs113752912 0.07875
NM_000466.3(PEX1):c.-53C>G rs12386703 0.07798
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07353
NM_001127649.3(PEX26):c.*1623G>T rs114698763 0.06369
NM_000287.4(PEX6):c.2364G>A (p.Val788=) rs2274515 0.06152
NM_000287.4(PEX6):c.*319C>T rs736158 0.06143
NM_000286.3(PEX12):c.-534C>T rs2278950 0.05335
NM_002617.4(PEX10):c.279C>T (p.Gly93=) rs1143016 0.05120
NM_002857.4(PEX19):c.*2353G>T rs9853 0.04407
NM_004565.3(PEX14):c.1014C>T (p.Asp338=) rs2128414 0.04291
NM_000466.3(PEX1):c.358-11G>C rs113104510 0.04153
NM_001127649.3(PEX26):c.*754A>G rs114146293 0.03730
NM_000318.3(PEX2):c.*1141G>A rs10108054 0.03721
NM_000318.3(PEX2):c.*1909G>T rs112352942 0.03714
NM_000318.3(PEX2):c.*2446C>T rs73242165 0.03710
NM_000318.3(PEX2):c.24G>A (p.Ala8=) rs9298285 0.03660
NM_000318.3(PEX2):c.*2338C>T rs56231626 0.03506
NM_002857.4(PEX19):c.*487T>A rs16831724 0.03465
NM_002617.4(PEX10):c.*11G>A rs3795270 0.03427
NM_000318.3(PEX2):c.*2142A>G rs79700176 0.03415
NM_000318.3(PEX2):c.*1696C>T rs112199677 0.03286
NM_002857.4(PEX19):c.*1084T>C rs77962224 0.03113
NM_001127649.3(PEX26):c.*2878C>T rs116424707 0.02655
NM_001127649.3(PEX26):c.*1608G>A rs116824049 0.02602
NM_002857.4(PEX19):c.*2417C>T rs193290301 0.02557
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821 0.02553
NM_002857.4(PEX19):c.433-11G>T rs41265791 0.02551
NM_000318.3(PEX2):c.733G>A (p.Ala245Thr) rs112108739 0.02536
NM_004813.4(PEX16):c.303C>T (p.Ala101=) rs80275010 0.02501
NM_001127649.3(PEX26):c.*1003T>G rs79085553 0.02437
NM_002618.4(PEX13):c.1078C>G (p.Leu360Val) rs74350038 0.02423
NM_000318.3(PEX2):c.*458G>A rs143201132 0.02392
NM_004565.3(PEX14):c.475G>A (p.Val159Met) rs74052157 0.02375
NM_001127649.3(PEX26):c.*2701G>C rs114075265 0.02360
NM_002618.4(PEX13):c.*775G>A rs143032208 0.02272
NM_002857.4(PEX19):c.*2637G>A rs41265787 0.02253
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr) rs76708142 0.02223
NM_002857.4(PEX19):c.*898A>G rs8989 0.02188
NM_000287.4(PEX6):c.207C>T (p.Pro69=) rs11539736 0.02141
NM_004813.4(PEX16):c.*438C>T rs2280328 0.02139
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile) rs2274516 0.02086
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_004813.4(PEX16):c.307G>A (p.Val103Met) rs11553094 0.01821
NM_002857.4(PEX19):c.*328A>G rs115260345 0.01698
NM_004813.4(PEX16):c.760G>C (p.Val254Leu) rs35214605 0.01652
NM_001351132.2(PEX5):c.*75G>A rs112966367 0.01593
NM_017929.5(PEX26):c.-148C>T rs115617644 0.01576
NM_000286.3(PEX12):c.*636T>C rs111424374 0.01528
NM_000286.3(PEX12):c.*297T>C rs113891712 0.01526
NM_003630.3(PEX3):c.245A>G (p.Gln82Arg) rs35220041 0.01440
NM_004813.4(PEX16):c.*158A>C rs79435202 0.01440
NM_004565.3(PEX14):c.513C>A (p.Ala171=) rs35046754 0.01363
NM_001127649.3(PEX26):c.*464A>G rs141229564 0.01278
NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln) rs111282915 0.01262
NM_001127649.3(PEX26):c.*10C>T rs117472525 0.01244
NM_002618.4(PEX13):c.*1652G>A rs72877535 0.01126
NM_001127649.3(PEX26):c.*1778C>T rs79447039 0.01095
NM_001127649.3(PEX26):c.*1957G>A rs11913772 0.01094
NM_000318.3(PEX2):c.*1601T>A rs116949534 0.01081
NM_003630.3(PEX3):c.*205C>A rs78091135 0.01040
NM_001351132.2(PEX5):c.*960C>G rs78134587 0.01032
NM_000318.3(PEX2):c.*1242A>G rs73691481 0.01024
NM_000318.3(PEX2):c.*2306A>G rs59296540 0.01019
NM_000318.3(PEX2):c.*2554G>A rs116215385 0.01018
NM_002618.4(PEX13):c.*1943G>A rs183689971 0.00973
NM_000286.3(PEX12):c.733T>A (p.Leu245Ile) rs12941376 0.00945
NM_004565.3(PEX14):c.959G>A (p.Arg320Lys) rs12070353 0.00912
NM_002617.4(PEX10):c.843G>A (p.Arg281=) rs35082957 0.00846
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys) rs112822975 0.00803
NM_000466.3(PEX1):c.2901G>A (p.Gln967=) rs111704518 0.00792
NM_001351132.2(PEX5):c.998G>A (p.Arg333His) rs59209175 0.00776
NM_000286.3(PEX12):c.*781T>A rs185900922 0.00728
NM_002618.4(PEX13):c.674A>G (p.Asp225Gly) rs116059308 0.00690
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224 0.00687
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val) rs115180949 0.00686
NM_002617.4(PEX10):c.685G>C (p.Val229Leu) rs139345520 0.00686
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_001351132.2(PEX5):c.1632G>A (p.Ala544=) rs115338343 0.00644
NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser) rs34551839 0.00619
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676 0.00583
NM_002617.4(PEX10):c.332T>C (p.Leu111Pro) rs35426403 0.00554
NM_004565.3(PEX14):c.504G>A (p.Thr168=) rs146781531 0.00548
NM_002857.3(PEX19):c.-14T>G rs2301297 0.00535
NM_000287.4(PEX6):c.1071A>G (p.Leu357=) rs116318004 0.00363
NM_000466.3(PEX1):c.473-3C>T rs150576000 0.00213
NM_002857.4(PEX19):c.*1471A>T rs2301299 0.00133
NM_002857.4(PEX19):c.346+14A>G rs77156017 0.00133
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala) rs77261230 0.00105
NM_004565.3(PEX14):c.78G>A (p.Glu26=) rs144664869 0.00047
NM_002857.4(PEX19):c.254C>T (p.Ala85Val) rs11550119 0.00041
NM_002617.4(PEX10):c.27G>A (p.Pro9=) rs559431523 0.00018
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418 0.00011
NM_002617.4(PEX10):c.435G>A (p.Met145Ile) rs368273118 0.00003
NM_000286.3(PEX12):c.*880_*883del rs35050283
NM_000287.4(PEX6):c.*438TAAA[1] rs144286892
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro) rs61752141
NM_000288.4(PEX7):c.-65A>T rs190537612
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp) rs73404416
NM_001127649.3(PEX26):c.*1283C>T rs73876563
NM_001127649.3(PEX26):c.*1532_*1535dup rs361782
NM_001127649.3(PEX26):c.*1661_*1662insACTC rs361571
NM_001127649.3(PEX26):c.*1859A>C rs146739242
NM_001127649.3(PEX26):c.*829A>G rs362057
NM_001127649.3(PEX26):c.*944C>A rs78412274
NM_001351132.2(PEX5):c.*1134dup rs11448434
NM_001351132.2(PEX5):c.*628G>A rs12316371
NM_001351132.2(PEX5):c.*628G>C rs12316371
NM_001351132.2(PEX5):c.-20C>G rs12227917
NM_002617.4(PEX10):c.*352G>A rs115735911
NM_002857.4(PEX19):c.181-15A>G rs114403769
NM_003630.3(PEX3):c.-197T>C rs184934783
NM_004813.4(PEX16):c.*376G>C rs143868125

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