ClinVar Miner

List of variants in gene PEX1 studied for Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418 0.00005
NM_000466.3(PEX1):c.1239+1G>T rs756876301 0.00002
NM_000466.3(PEX1):c.130-1G>T rs1028247729 0.00002
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp) rs398123408 0.00002
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142 0.00002
NM_000466.3(PEX1):c.1126del (p.Glu376fs) rs751829426 0.00001
NM_000466.3(PEX1):c.180G>A (p.Trp60Ter) rs1408895107 0.00001
NM_000466.3(PEX1):c.2085_2089del (p.Met695fs) rs267608178 0.00001
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter) rs61750422 0.00001
NM_000466.3(PEX1):c.1099C>T (p.Gln367Ter) rs140990231
NM_000466.3(PEX1):c.1174G>T (p.Glu392Ter) rs2484701919
NM_000466.3(PEX1):c.1321del (p.Ile441fs) rs2484692316
NM_000466.3(PEX1):c.1340T>G (p.Leu447Ter) rs1585248089
NM_000466.3(PEX1):c.1363A>T (p.Lys455Ter) rs2484687812
NM_000466.3(PEX1):c.1374_1375delinsA (p.Ser458fs) rs2484687766
NM_000466.3(PEX1):c.1468_1469del (p.Leu490fs) rs2484687452
NM_000466.3(PEX1):c.1492G>T (p.Glu498Ter) rs2484685958
NM_000466.3(PEX1):c.1552_1553delinsA (p.Leu518fs) rs2484685766
NM_000466.3(PEX1):c.1611del (p.Glu538fs) rs2484682064
NM_000466.3(PEX1):c.1696_1697del (p.Ser566fs) rs2484676547
NM_000466.3(PEX1):c.1716_1717del (p.His572fs) rs786204606
NM_000466.3(PEX1):c.175_176del (p.Ser59fs) rs2484712940
NM_000466.3(PEX1):c.1769_1770del (p.Leu590fs) rs2484676279
NM_000466.3(PEX1):c.1801A>T (p.Lys601Ter) rs2484676110
NM_000466.3(PEX1):c.1815dup (p.Ser606fs) rs2484673692
NM_000466.3(PEX1):c.1817C>A (p.Ser606Ter) rs1792186595
NM_000466.3(PEX1):c.1822_1823del (p.Leu608fs) rs2484673641
NM_000466.3(PEX1):c.1840A>T (p.Lys614Ter) rs2484673578
NM_000466.3(PEX1):c.1876A>T (p.Arg626Ter) rs2484673420
NM_000466.3(PEX1):c.1895del (p.Leu632fs) rs2484673340
NM_000466.3(PEX1):c.205C>T (p.Gln69Ter) rs1469341456
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp) rs863225084
NM_000466.3(PEX1):c.2142_2143del (p.Gln715fs) rs2484664984
NM_000466.3(PEX1):c.2199C>A (p.Cys733Ter) rs758268792
NM_000466.3(PEX1):c.2212_2213del (p.Gln738fs) rs2484664752
NM_000466.3(PEX1):c.2233A>T (p.Arg745Ter) rs2484662041
NM_000466.3(PEX1):c.2280_2281insG (p.Ile761fs) rs2484661854
NM_000466.3(PEX1):c.2353_2355delinsT (p.Thr785fs) rs2484661619
NM_000466.3(PEX1):c.253G>T (p.Gly85Ter) rs2484712710
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter) rs1057517485
NM_000466.3(PEX1):c.2770dup (p.Asp924fs) rs2484646305
NM_000466.3(PEX1):c.358-1G>T rs1057517479
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter) rs201415996
NM_000466.3(PEX1):c.496del (p.Tyr166fs) rs2484704330
NM_000466.3(PEX1):c.510_511insGTTATAAAATTTAT (p.Thr171fs) rs2484704280
NM_000466.3(PEX1):c.512_513delinsTTTAAACAAGCACTTCAAA (p.Thr171delinsIleTer) rs2484704272
NM_000466.3(PEX1):c.532_533del (p.Gln178fs) rs2484704194
NM_000466.3(PEX1):c.573del (p.Ala192fs) rs1585255490
NM_000466.3(PEX1):c.629_630delinsA (p.Met210fs) rs2484703860
NM_000466.3(PEX1):c.659C>A (p.Ser220Ter) rs759048090
NM_000466.3(PEX1):c.716C>G (p.Ser239Ter) rs1792868421
NM_000466.3(PEX1):c.757_758delinsA (p.Phe253fs) rs2484703483
NM_000466.3(PEX1):c.805_806del (p.Glu269fs) rs2484703261

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