ClinVar Miner

List of variants reported as pathogenic for Zellweger spectrum disorders by OMIM

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238 0.00010
NM_002617.4(PEX10):c.704dup (p.Leu236fs) rs61750435 0.00008
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp) rs62641228 0.00007
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) rs61752123 0.00006
NM_002617.4(PEX10):c.814_815del (p.Leu272fs) rs61752093 0.00006
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter) rs61752103 0.00004
NM_003846.3(PEX11B):c.277C>T (p.Arg93Ter) rs781939614 0.00004
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_001351132.2(PEX5):c.1279C>T (p.Arg427Ter) rs61752137 0.00003
NM_002617.4(PEX10):c.730C>T (p.Arg244Ter) rs61752092 0.00003
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln) rs724160001 0.00003
NM_002857.4(PEX19):c.763dup (p.Met255fs) rs267608186 0.00003
NM_000287.4(PEX6):c.1962-1G>A rs267608229 0.00002
NM_000287.4(PEX6):c.510dup (p.Gly171fs) rs1491384052 0.00002
NM_000318.3(PEX2):c.163G>A (p.Glu55Lys) rs61752119 0.00002
NM_002617.4(PEX10):c.600+1G>A rs267608183 0.00002
NM_000286.3(PEX12):c.744dup (p.Thr249fs) rs61752108 0.00001
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) rs121909154 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro) rs61752132 0.00001
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter) rs61750434 0.00001
NM_003630.3(PEX3):c.898C>T (p.Arg300Ter) rs201179294 0.00001
NM_003630.3(PEX3):c.991G>A (p.Gly331Arg) rs1057523689 0.00001
NM_003846.3(PEX11B):c.64C>T (p.Gln22Ter) rs397515419 0.00001
NM_004813.4(PEX16):c.526C>T (p.Arg176Ter) rs61752117 0.00001
NC_000002.12:g.60947640_61094952del
NG_008340.2:g.(25377_66267)_(66353_129292)del
NM_000286.3(PEX12):c.684_687del (p.Ser229fs) rs62642859
NM_000286.3(PEX12):c.691A>T (p.Lys231Ter) rs104894616
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs) rs61752107
NM_000286.3(PEX12):c.765_766dup (p.Phe256fs) rs1057519507
NM_000286.3(PEX12):c.888_889del (p.Leu297fs) rs398123301
NM_000287.4(PEX6):c.1130+1G>A rs267608213
NM_000287.4(PEX6):c.1301del (p.Ser434fs) rs62641231
NM_000287.4(PEX6):c.1601T>C (p.Leu534Pro) rs387906809
NM_000287.4(PEX6):c.1688+1G>A rs112298166
NM_000287.4(PEX6):c.2094G>A (p.Lys698=) rs2481209830
NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs) rs62653602
NM_000287.4(PEX6):c.621_882+2del rs1554128347
NM_000287.4(PEX6):c.[*438TAAA[1];2578C>T]
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) rs61753233
NM_000288.4(PEX7):c.45_52dup (p.His18fs) rs63535662
NM_000318.3(PEX2):c.279_283del (p.Arg94fs) rs61752122
NM_000318.3(PEX2):c.669G>A (p.Trp223Ter) rs61752127
NM_000318.3(PEX2):c.739T>C (p.Cys247Arg) rs61752128
NM_000318.3(PEX2):c.865dup (p.Ser289fs) rs724160029
NM_000466.3(PEX1):c.1906_2064del (p.Arg636_Leu688del) rs1554372074
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_001127649.3(PEX26):c.230+1G>T rs267608190
NM_001127649.3(PEX26):c.254dup (p.Cys86fs) rs61752133
NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg) rs28940308
NM_001127649.3(PEX26):c.296G>A (p.Trp99Ter) rs62641229
NM_001127649.3(PEX26):c.2T>C (p.Met1Thr) rs74315506
NM_001127649.3(PEX26):c.34dup (p.Leu12fs) rs61752129
NM_001127649.3(PEX26):c.[34dup;669_814+1del]
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys) rs61752138
NM_002617.4(PEX10):c.2T>C (p.Met1Thr) rs724160002
NM_002617.4(PEX10):c.337del (p.Leu113fs) rs724159999
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro) rs724160000
NM_002617.4(PEX10):c.870C>G (p.His290Gln) rs61752095
NM_002617.4:c.13_28delinsCCGCCAGCACCTGCGCCGCC rs2522307302
NM_002618.4(PEX13):c.107_120del (p.Gly36fs) rs2104803129
NM_002618.4(PEX13):c.702G>A (p.Trp234Ter) rs104893661
NM_002618.4(PEX13):c.937T>G (p.Trp313Gly) rs61752113
NM_002618.4(PEX13):c.977T>C (p.Ile326Thr) rs61752115
NM_002857.4(PEX19):c.320del (p.Lys107fs) rs1571138735
NM_003630.3(PEX3):c.543dup (p.Val182fs) rs62641230
NM_003630.3(PEX3):c.942-8T>G rs267608193
NM_004565.3(PEX14):c.553C>T (p.Gln185Ter) rs61752116
NM_004813.4(PEX16):c.952+118_*82del rs2494874800
NM_004813.4(PEX16):c.952+2T>C rs267608185
NM_004813.4(PEX16):c.984del (p.Ile330fs) rs1590793006
NM_004813.4(PEX16):c.992A>G (p.Tyr331Cys) rs397514472

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