ClinVar Miner

List of variants reported as likely pathogenic for Peroxisome biogenesis disorder 1A (Zellweger)

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Total variants: 89
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HGVS dbSNP
NM_000466.2(PEX1):c.1074_1075delGA (p.Lys359Alafs) rs1057517488
NM_000466.2(PEX1):c.1076delA (p.Lys359Serfs) rs1057517465
NM_000466.2(PEX1):c.1108delA (p.Ile370Leufs) rs61750406
NM_000466.2(PEX1):c.1131delA (p.Asp378Metfs) rs886043479
NM_000466.2(PEX1):c.1155delA (p.Val386Terfs) rs1057517520
NM_000466.2(PEX1):c.1239+1G>A rs756876301
NM_000466.2(PEX1):c.130-1G>C rs1028247729
NM_000466.2(PEX1):c.1414C>T (p.Gln472Ter) rs1554373801
NM_000466.2(PEX1):c.1439delT (p.Leu480Trpfs) rs1554373787
NM_000466.2(PEX1):c.1501_1502delCT (p.Leu501Glufs) rs786204743
NM_000466.2(PEX1):c.1522dupG (p.Glu508Glyfs) rs1057517463
NM_000466.2(PEX1):c.1527delA (p.Glu510Lysfs) rs1057517497
NM_000466.2(PEX1):c.1528G>T (p.Glu510Ter) rs754983126
NM_000466.2(PEX1):c.1587+1G>A rs1057517469
NM_000466.2(PEX1):c.1587+2T>C rs1554373578
NM_000466.2(PEX1):c.1670+1G>T rs1057517490
NM_000466.2(PEX1):c.1716_1717delCA (p.His572Glnfs) rs786204606
NM_000466.2(PEX1):c.1765G>T (p.Gly589Ter) rs1057517489
NM_000466.2(PEX1):c.1838_1839dup (p.Lys614Valfs) rs1554372561
NM_000466.2(PEX1):c.1842delA (p.Glu615Lysfs) rs267608176
NM_000466.2(PEX1):c.1886_1887delGT (p.Cys629Terfs) rs1398892633
NM_000466.2(PEX1):c.1897C>T (p.Arg633Ter) rs61750409
NM_000466.2(PEX1):c.1908delG (p.Arg636Serfs) rs1057517478
NM_000466.2(PEX1):c.1921C>T (p.Gln641Ter) rs1057517464
NM_000466.2(PEX1):c.1926_1927delAAinsC (p.Lys642Asnfs) rs1057517529
NM_000466.2(PEX1):c.1927dup (p.Thr643Asnfs) rs1554372180
NM_000466.2(PEX1):c.1964_1970dup (p.Val658Alafs) rs1057517486
NM_000466.2(PEX1):c.1991T>C (p.Leu664Pro) rs121434455
NM_000466.2(PEX1):c.1A>C (p.Met1Leu) rs1057517501
NM_000466.2(PEX1):c.1A>T (p.Met1Leu) rs1057517501
NM_000466.2(PEX1):c.2034_2035delCA (p.His678Glnfs) rs61750412
NM_000466.2(PEX1):c.2071+2T>C rs1478905473
NM_000466.2(PEX1):c.2137C>T (p.Gln713Ter) rs1057517468
NM_000466.2(PEX1):c.2162_2166del5 (p.Leu721Cysfs) rs1057517499
NM_000466.2(PEX1):c.2230C>T (p.Gln744Ter) rs398123409
NM_000466.2(PEX1):c.2383C>T (p.Arg795Ter) rs61750418
NM_000466.2(PEX1):c.2391_2392delTC (p.Arg798Serfs) rs61750414
NM_000466.2(PEX1):c.2488_2489dup (p.Asn830Lysfs) rs1554370868
NM_000466.2(PEX1):c.2489dup (p.Asn830Lysfs) rs1554370868
NM_000466.2(PEX1):c.2617C>T (p.Gln873Ter) rs1057517470
NM_000466.2(PEX1):c.2686C>T (p.Arg896Ter) rs1057517485
NM_000466.2(PEX1):c.2719-2A>G rs1554369234
NM_000466.2(PEX1):c.2723delC (p.Pro908Glnfs) rs1057517503
NM_000466.2(PEX1):c.273+1G>A rs1554376597
NM_000466.2(PEX1):c.2730delA (p.Leu910Phefs) rs61750423
NM_000466.2(PEX1):c.2760delA (p.Ala921Leufs) rs1256376226
NM_000466.2(PEX1):c.2798dupA (p.Pro934Alafs) rs1057517484
NM_000466.2(PEX1):c.2852dup (p.His951Glnfs) rs767877383
NM_000466.2(PEX1):c.2859dupT (p.Thr954Tyrfs) rs1057517472
NM_000466.2(PEX1):c.2875C>T (p.Arg959Ter) rs1057517481
NM_000466.2(PEX1):c.2916delA (p.Gly973Alafs) rs61750426
NM_000466.2(PEX1):c.2922delA (p.Leu974Phefs) rs762324548
NM_000466.2(PEX1):c.2926+1G>A rs267608179
NM_000466.2(PEX1):c.2926+2T>C rs267608180
NM_000466.2(PEX1):c.2927-2A>G rs1057517531
NM_000466.2(PEX1):c.2T>G (p.Met1Arg) rs766020928
NM_000466.2(PEX1):c.3207+2C>A rs1554368097
NM_000466.2(PEX1):c.3208-1G>A rs1057517518
NM_000466.2(PEX1):c.3237_3238delAA (p.Leu1081Valfs) rs1057517509
NM_000466.2(PEX1):c.3332_3354del23 (p.Leu1111Terfs) rs1554367358
NM_000466.2(PEX1):c.3438+1G>T rs1554367284
NM_000466.2(PEX1):c.3455_3456delCT (p.Ser1152Cysfs) rs759183382
NM_000466.2(PEX1):c.3455_3456dup (p.Ala1153Leufs) rs759183382
NM_000466.2(PEX1):c.348G>A (p.Trp116Ter) rs1057517487
NM_000466.2(PEX1):c.3547G>T (p.Glu1183Ter) rs1057517480
NM_000466.2(PEX1):c.357+1G>A rs866144313
NM_000466.2(PEX1):c.3574C>T (p.Gln1192Ter) rs1057517467
NM_000466.2(PEX1):c.358-1G>T rs1057517479
NM_000466.2(PEX1):c.358-2A>C rs1057517500
NM_000466.2(PEX1):c.358-2A>G rs1057517500
NM_000466.2(PEX1):c.3580_3581delGA (p.Asp1194Serfs) rs1160117945
NM_000466.2(PEX1):c.3626delG (p.Ser1209Thrfs) rs1554366766
NM_000466.2(PEX1):c.3693_3696delGTCA (p.Gln1231Hisfs) rs769836601
NM_000466.2(PEX1):c.3G>A (p.Met1Ile) rs786204704
NM_000466.2(PEX1):c.431dupC (p.Val145Cysfs) rs1057517506
NM_000466.2(PEX1):c.472+1G>A rs762852144
NM_000466.2(PEX1):c.473-1G>A rs1554375661
NM_000466.2(PEX1):c.473-1G>C rs1554375661
NM_000466.2(PEX1):c.569C>A (p.Ser190Ter) rs1554375599
NM_000466.2(PEX1):c.5G>A (p.Trp2Ter) rs762679408
NM_000466.2(PEX1):c.643_647del5 (p.Thr215Alafs) rs786204544
NM_000466.2(PEX1):c.734delT (p.Leu245Tyrfs) rs1057517522
NM_000466.2(PEX1):c.760dup (p.Ser254Phefs) rs1554375511
NM_000466.2(PEX1):c.782_783delAA (p.Gln261Argfs) rs749067142
NM_000466.2(PEX1):c.892_895dupTATA (p.Asn299Ilefs) rs1057517505
NM_000466.2(PEX1):c.911_912delCT (p.Ser304Cysfs) rs786204638
NM_000466.2:c.1743_1796del rs1554372756
NM_000466.3(PEX1):c.1670+1G>A rs1057517490
NM_003630.3(PEX3):c.412G>A (p.Gly138Arg)

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