ClinVar Miner

List of variants reported as pathogenic for Peroxisome biogenesis disorder 2B by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001351132.2(PEX5):c.1279C>T (p.Arg427Ter) rs61752137 0.00003
NM_001351132.2(PEX5):c.1255C>T (p.Gln419Ter) rs1300934931 0.00001
NM_001351132.2(PEX5):c.552G>A (p.Trp184Ter) rs1419213790 0.00001
NM_001351132.2(PEX5):c.583C>T (p.Gln195Ter) rs890363450 0.00001
NM_001351132.2(PEX5):c.709C>T (p.Arg237Ter) rs777733574 0.00001
NM_001351132.2(PEX5):c.944_945dup (p.Thr316fs) rs751148574 0.00001
NC_000012.11:g.(?_7053285)_(9027607_?)del
NM_001351132.2(PEX5):c.119G>A (p.Trp40Ter) rs2135879026
NM_001351132.2(PEX5):c.1258C>T (p.Arg420Ter) rs777735499
NM_001351132.2(PEX5):c.1264dup (p.Ala422fs) rs1374334296
NM_001351132.2(PEX5):c.1279del (p.Arg427fs)
NM_001351132.2(PEX5):c.1279dup (p.Arg427fs) rs759789707
NM_001351132.2(PEX5):c.1319_1320del (p.Val440fs) rs2540275433
NM_001351132.2(PEX5):c.1355_1356del (p.Leu452fs) rs2540276834
NM_001351132.2(PEX5):c.1368_1369insGG (p.Arg457fs) rs2540277461
NM_001351132.2(PEX5):c.1426del (p.Leu476fs) rs2540292773
NM_001351132.2(PEX5):c.1469_1470insAC (p.Gln491fs) rs2136243209
NM_001351132.2(PEX5):c.1512T>G (p.Tyr504Ter) rs2540296604
NM_001351132.2(PEX5):c.1521_1527del (p.Val508fs) rs1731078730
NM_001351132.2(PEX5):c.1574G>A (p.Trp525Ter) rs2136254746
NM_001351132.2(PEX5):c.1578T>A (p.Asn526Lys) rs61752138
NM_001351132.2(PEX5):c.1607del (p.Asn536fs) rs2540322042
NM_001351132.2(PEX5):c.30del (p.Glu10fs) rs2539797147
NM_001351132.2(PEX5):c.358C>T (p.Gln120Ter) rs1941140792
NM_001351132.2(PEX5):c.361G>T (p.Glu121Ter) rs1565673352
NM_001351132.2(PEX5):c.416_419del (p.Asp139fs) rs1941153600
NM_001351132.2(PEX5):c.472del (p.Arg158fs) rs2136074154
NM_001351132.2(PEX5):c.478del (p.Ala160fs) rs2540040198
NM_001351132.2(PEX5):c.500C>G (p.Ser167Ter) rs2540040738
NM_001351132.2(PEX5):c.531_534dup (p.Thr179fs) rs2136075415
NM_001351132.2(PEX5):c.54_69dup (p.Phe24fs) rs2539798184
NM_001351132.2(PEX5):c.555T>A (p.Tyr185Ter) rs2540125931
NM_001351132.2(PEX5):c.670G>T (p.Glu224Ter) rs767347186
NM_001351132.2(PEX5):c.674_695dup (p.Ser235fs) rs2136151586
NM_001351132.2(PEX5):c.715C>T (p.Gln239Ter) rs1425522784
NM_001351132.2(PEX5):c.737_738del (p.Glu246fs) rs2540148055
NM_001351132.2(PEX5):c.740_743del (p.Phe247fs) rs2540148386
NM_001351132.2(PEX5):c.76C>T (p.Gln26Ter) rs2539799070
NM_001351132.2(PEX5):c.808dup (p.Leu270fs) rs2136158689
NM_001351132.2(PEX5):c.826C>T (p.Arg276Ter) rs267608194
NM_001351132.2(PEX5):c.82_83insT (p.Lys28fs) rs2539799335
NM_001351132.2(PEX5):c.88del (p.Leu30fs) rs2539799464
NM_001351132.2(PEX5):c.982G>T (p.Glu328Ter)

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