ClinVar Miner

List of variants in gene PEX1 studied for Zellweger syndrome

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Total variants: 72
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HGVS dbSNP
NM_000466.3(PEX1):c.-137T>C rs12386601
NM_000466.3(PEX1):c.-53C>G rs12386703
NM_000466.3(PEX1):c.1077G>A (p.Lys359=) rs138905930
NM_000466.3(PEX1):c.1108del (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1152A>G (p.Leu384=) rs776933950
NM_000466.3(PEX1):c.1175A>G (p.Glu392Gly)
NM_000466.3(PEX1):c.1230G>A (p.Gly410=) rs539382251
NM_000466.3(PEX1):c.1240A>G (p.Ile414Val) rs759491353
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn) rs143273433
NM_000466.3(PEX1):c.1284C>T (p.Ala428=) rs145153467
NM_000466.3(PEX1):c.129+8G>A
NM_000466.3(PEX1):c.130-9T>C rs377337949
NM_000466.3(PEX1):c.1324C>T (p.Pro442Ser) rs560969584
NM_000466.3(PEX1):c.1360-7C>T rs371890000
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
NM_000466.3(PEX1):c.144A>C (p.Glu48Asp)
NM_000466.3(PEX1):c.147G>A (p.Val49=) rs202230667
NM_000466.3(PEX1):c.1582A>G (p.Ile528Val)
NM_000466.3(PEX1):c.1587+1G>A rs1057517469
NM_000466.3(PEX1):c.1587+5T>C rs199526105
NM_000466.3(PEX1):c.1620C>G (p.Asn540Lys)
NM_000466.3(PEX1):c.1638T>A (p.Phe546Leu)
NM_000466.3(PEX1):c.1714_1715CA[1] (p.His572fs) rs786204606
NM_000466.3(PEX1):c.1725G>A (p.Leu575=) rs150667796
NM_000466.3(PEX1):c.1750A>G (p.Met584Val)
NM_000466.3(PEX1):c.1754C>T (p.Ser585Phe)
NM_000466.3(PEX1):c.1772G>A (p.Arg591Lys)
NM_000466.3(PEX1):c.1815A>G (p.Lys605=) rs112688556
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer) rs1398892633
NM_000466.3(PEX1):c.1952_1960dup (p.Met654_Gln655insThrValTrp) rs398123408
NM_000466.3(PEX1):c.1975G>T (p.Val659Phe) rs193221288
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val) rs145350631
NM_000466.3(PEX1):c.2071+3A>G
NM_000466.3(PEX1):c.2086A>G (p.Ile696Val)
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile)
NM_000466.3(PEX1):c.2278G>C (p.Asp760His) rs757149759
NM_000466.3(PEX1):c.2330_2331delinsA (p.Gly777fs)
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418
NM_000466.3(PEX1):c.2389T>A (p.Ser797Thr)
NM_000466.3(PEX1):c.2468del (p.Pro823fs) rs766947924
NM_000466.3(PEX1):c.2479C>T (p.Arg827Ter)
NM_000466.3(PEX1):c.249del (p.Lys83fs)
NM_000466.3(PEX1):c.2554C>T (p.Leu852Phe)
NM_000466.3(PEX1):c.2558T>C (p.Met853Thr) rs143283146
NM_000466.3(PEX1):c.2584-21dup rs5885806
NM_000466.3(PEX1):c.2633_2635TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=) rs201719745
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter) rs1057517485
NM_000466.3(PEX1):c.2743A>T (p.Ile915Phe)
NM_000466.3(PEX1):c.2760del (p.Ala921fs) rs1256376226
NM_000466.3(PEX1):c.2784-7T>C rs777893142
NM_000466.3(PEX1):c.2T>C (p.Met1Thr) rs766020928
NM_000466.3(PEX1):c.358-11G>C rs113104510
NM_000466.3(PEX1):c.358-15G>A rs38809
NM_000466.3(PEX1):c.457A>G (p.Ile153Val)
NM_000466.3(PEX1):c.472+5G>A
NM_000466.3(PEX1):c.541A>C (p.Thr181Pro)
NM_000466.3(PEX1):c.545G>C (p.Arg182Pro)
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter) rs1554375599
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter) rs762679408
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969
NM_000466.3(PEX1):c.642A>C (p.Gln214His)
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn) rs372485912
NM_000466.3(PEX1):c.693C>T (p.Asn231=)
NM_000466.3(PEX1):c.706_720del (p.Pro236_Ser240del)
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142
NM_000466.3(PEX1):c.819_835delinsGTCT (p.Phe273fs)
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg) rs886062506
NM_000466.3(PEX1):c.831G>A (p.Gln277=) rs1210178752
NM_000466.3(PEX1):c.889A>G (p.Ile297Val) rs181796768
NM_000466.3(PEX1):c.891A>G (p.Ile297Met) rs143206380

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