ClinVar Miner

List of variants reported as likely pathogenic for Zellweger spectrum disorders

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln) rs61750425 0.00004
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val) rs62641232 0.00003
NM_000466.3(PEX1):c.130-1G>T rs1028247729 0.00002
NM_000287.4(PEX6):c.1233+1G>A rs763459576 0.00001
NM_000287.4(PEX6):c.1287del (p.Trp430fs) rs1258472160 0.00001
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp) rs61753225 0.00001
NM_000287.4(PEX6):c.2362+1G>A rs1443107232 0.00001
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg) rs61750407 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000466.3(PEX1):c.2071+1G>T rs267608177 0.00001
NM_000466.3(PEX1):c.2583+1G>T rs771586413 0.00001
NM_000466.3(PEX1):c.2719-1G>A rs1791673946 0.00001
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp) rs866184460 0.00001
NM_000466.3(PEX1):c.3038G>C (p.Arg1013Pro) rs1484321655 0.00001
NM_000466.3(PEX1):c.3208-1G>A rs1057517518 0.00001
NC_000007.13:g.(?_92146659)_(92148107_?)del
NC_000007.13:g.(?_92146662)_(92148110_?)del
NM_000318.3(PEX2):c.310dup (p.Ile104fs) rs1235008965
NM_000466.3(PEX1):c.130-2A>T rs1585260993
NM_000466.3(PEX1):c.1351_1354dup (p.Asn452fs) rs1792596054
NM_000466.3(PEX1):c.1359+1G>C
NM_000466.3(PEX1):c.1587+1G>A rs1057517469
NM_000466.3(PEX1):c.1587+1G>T
NM_000466.3(PEX1):c.1670+1G>A rs1057517490
NM_000466.3(PEX1):c.1670+1G>T rs1057517490
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro) rs370483961
NM_000466.3(PEX1):c.1793_1803+1del rs2116180739
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer) rs1398892633
NM_000466.3(PEX1):c.1900+1G>A rs770447891
NM_000466.3(PEX1):c.1900+2T>C rs1562857198
NM_000466.3(PEX1):c.1901-1G>T
NM_000466.3(PEX1):c.1901-2A>G
NM_000466.3(PEX1):c.2071+2T>C rs1478905473
NM_000466.3(PEX1):c.2072-1G>A
NM_000466.3(PEX1):c.2072-42_2085del rs1792018845
NM_000466.3(PEX1):c.2227-1G>C
NM_000466.3(PEX1):c.2417-1G>T
NM_000466.3(PEX1):c.2718+1G>A
NM_000466.3(PEX1):c.2719-2A>G rs1554369234
NM_000466.3(PEX1):c.273+1G>A rs1554376597
NM_000466.3(PEX1):c.273+2T>G
NM_000466.3(PEX1):c.2783+2T>C rs1585224312
NM_000466.3(PEX1):c.2784-1G>C
NM_000466.3(PEX1):c.2927-2A>G rs1057517531
NM_000466.3(PEX1):c.3031-1G>A
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) rs1484321655
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro) rs954814470
NM_000466.3(PEX1):c.3207+1G>C rs267608181
NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer) rs1585214453
NM_000466.3(PEX1):c.3438+1G>A rs1554367284
NM_000466.3(PEX1):c.3439-2A>G
NM_000466.3(PEX1):c.357+1G>C rs866144313
NM_000466.3(PEX1):c.358-1G>T rs1057517479
NM_000466.3(PEX1):c.358-2A>C rs1057517500
NM_000466.3(PEX1):c.3637-1G>A
NM_000466.3(PEX1):c.3637-3_3637-1del rs2116039871
NM_000466.3(PEX1):c.3710C>A (p.Ala1237Glu) rs1473858573
NM_001351132.2(PEX5):c.826C>T (p.Arg276Ter)
NM_002857.4(PEX19):c.281T>A (p.Leu94Ter)
NM_002857.4(PEX19):c.606del (p.Trp202fs)

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