ClinVar Miner

List of variants reported as pathogenic for Zellweger spectrum disorders by Invitae

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ClinVar version:
Total variants: 195
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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.2926+1G>A rs267608179 0.00006
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418 0.00005
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427 0.00003
NM_000466.3(PEX1):c.721del (p.Ser241fs) rs894289737 0.00003
NM_000466.3(PEX1):c.1239+1G>T rs756876301 0.00002
NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter) rs61750417 0.00002
NM_000466.3(PEX1):c.2730del (p.Leu910fs) rs61750423 0.00002
NM_000466.3(PEX1):c.2T>C (p.Met1Thr) rs766020928 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.1795G>T (p.Gly599Ter) rs1792222710 0.00001
NM_000466.3(PEX1):c.1A>T (p.Met1Leu) rs1057517501 0.00001
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter) rs398123409 0.00001
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter) rs61750422 0.00001
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp) rs866184460 0.00001
NM_000466.3(PEX1):c.2926+2T>C rs267608180 0.00001
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) rs149806989 0.00001
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter) rs762679408 0.00001
NC_000007.13:g.(?_92116761)_(92136450_?)del
NC_000007.13:g.(?_92116771)_(92116875_?)del
NC_000007.13:g.(?_92126007)_(92126111_?)del
NC_000007.13:g.(?_92135552)_(92140371_?)del
NC_000007.13:g.(?_92135668)_(92140738_?)del
NC_000007.13:g.(?_92136298)_(92140371_?)del
NC_000007.13:g.(?_92143152)_(92143291_?)del
NC_000007.13:g.(?_92148299)_(92157759_?)del
NC_000007.14:g.(?_92489273)_(92491522_?)del
NC_000007.14:g.(?_92509319)_(92509421_?)del
NC_000007.14:g.92528411_92528711del rs2116299216
NM_000466.3(PEX1):c.1012_1016del (p.Leu338fs) rs2116243800
NM_000466.3(PEX1):c.1025del (p.Lys342fs)
NM_000466.3(PEX1):c.1027C>T (p.Gln343Ter)
NM_000466.3(PEX1):c.1048C>T (p.Gln350Ter)
NM_000466.3(PEX1):c.1076del (p.Lys359fs) rs1057517465
NM_000466.3(PEX1):c.1099del (p.Gln367fs) rs1403870448
NM_000466.3(PEX1):c.1108del (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1108dup (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1131del (p.Asp378fs) rs886043479
NM_000466.3(PEX1):c.1163G>A (p.Trp388Ter) rs1585254187
NM_000466.3(PEX1):c.1164G>A (p.Trp388Ter)
NM_000466.3(PEX1):c.1171_1183del (p.Leu391fs)
NM_000466.3(PEX1):c.1208del (p.Asn403fs) rs1376037318
NM_000466.3(PEX1):c.1239G>A (p.Trp413Ter)
NM_000466.3(PEX1):c.1342C>T (p.Gln448Ter) rs1467651370
NM_000466.3(PEX1):c.1375G>T (p.Glu459Ter)
NM_000466.3(PEX1):c.1393_1394del (p.Val465fs) rs1164941642
NM_000466.3(PEX1):c.1411C>T (p.Gln471Ter) rs758402265
NM_000466.3(PEX1):c.1422_1425del (p.Thr475fs)
NM_000466.3(PEX1):c.1456G>T (p.Glu486Ter) rs2116209376
NM_000466.3(PEX1):c.1483+1G>A rs1585244586
NM_000466.3(PEX1):c.1501_1502del (p.Leu501fs) rs786204743
NM_000466.3(PEX1):c.1522dup (p.Glu508fs) rs1057517463
NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter) rs754983126
NM_000466.3(PEX1):c.1583_1587del (p.Ile528fs)
NM_000466.3(PEX1):c.1652dup (p.Leu551fs)
NM_000466.3(PEX1):c.1671_1672del
NM_000466.3(PEX1):c.1672G>T (p.Gly558Ter) rs2116181877
NM_000466.3(PEX1):c.1716_1717del (p.His572fs) rs786204606
NM_000466.3(PEX1):c.1727dup (p.Arg577fs) rs1585238595
NM_000466.3(PEX1):c.1728del (p.Arg577fs)
NM_000466.3(PEX1):c.1742_1756del (p.Arg581_Ser585del)
NM_000466.3(PEX1):c.1792del (p.Thr598fs) rs886037783
NM_000466.3(PEX1):c.1817C>G (p.Ser606Ter) rs1792186595
NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs) rs1554372561
NM_000466.3(PEX1):c.1842del (p.Glu615fs) rs267608176
NM_000466.3(PEX1):c.1855A>T (p.Lys619Ter)
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer) rs1398892633
NM_000466.3(PEX1):c.1891del (p.Ala631fs) rs2075434480
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter) rs61750409
NM_000466.3(PEX1):c.1897del (p.Arg633fs)
NM_000466.3(PEX1):c.1908del (p.Arg636fs) rs1057517478
NM_000466.3(PEX1):c.1916dup (p.Asn639fs) rs2116166262
NM_000466.3(PEX1):c.1927del (p.Thr643fs) rs1554372180
NM_000466.3(PEX1):c.1927dup (p.Thr643fs) rs1554372180
NM_000466.3(PEX1):c.1955del (p.Val652fs) rs2116165935
NM_000466.3(PEX1):c.1963C>T (p.Gln655Ter) rs2116165809
NM_000466.3(PEX1):c.1A>C (p.Met1Leu) rs1057517501
NM_000466.3(PEX1):c.2001dup (p.Ala668fs)
NM_000466.3(PEX1):c.2034_2035del (p.His678fs) rs61750412
NM_000466.3(PEX1):c.2039del (p.Pro680fs) rs1269903353
NM_000466.3(PEX1):c.2050C>T (p.Gln684Ter)
NM_000466.3(PEX1):c.205C>T (p.Gln69Ter)
NM_000466.3(PEX1):c.2083_2084del (p.Met695fs) rs2116156265
NM_000466.3(PEX1):c.2085_2089del (p.Met695fs) rs267608178
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter) rs1057517468
NM_000466.3(PEX1):c.2146C>T (p.Gln716Ter)
NM_000466.3(PEX1):c.2162T>A (p.Leu721Ter) rs1792013985
NM_000466.3(PEX1):c.2164del (p.Val723fs) rs1792013807
NM_000466.3(PEX1):c.2175_2176del (p.Gln726fs)
NM_000466.3(PEX1):c.2176C>T (p.Gln726Ter) rs786205655
NM_000466.3(PEX1):c.2234del (p.Arg745fs)
NM_000466.3(PEX1):c.2268dup (p.Leu757fs)
NM_000466.3(PEX1):c.2308C>T (p.Gln770Ter)
NM_000466.3(PEX1):c.2330_2331delinsA (p.Gly777fs) rs1791951634
NM_000466.3(PEX1):c.2361del (p.Val788fs)
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs) rs61750414
NM_000466.3(PEX1):c.2396dup (p.Ser800fs) rs778871894
NM_000466.3(PEX1):c.2416+1G>A
NM_000466.3(PEX1):c.2420T>A (p.Leu807Ter)
NM_000466.3(PEX1):c.2464_2477dup (p.Leu826fs) rs1463323645
NM_000466.3(PEX1):c.2468del (p.Pro823fs) rs766947924
NM_000466.3(PEX1):c.2471del (p.Ala824fs) rs1585231093
NM_000466.3(PEX1):c.2479C>T (p.Arg827Ter) rs1232449804
NM_000466.3(PEX1):c.2480del (p.Arg827fs)
NM_000466.3(PEX1):c.249del (p.Lys83fs) rs1793076317
NM_000466.3(PEX1):c.2516G>A (p.Trp839Ter) rs2116145324
NM_000466.3(PEX1):c.2550dup (p.Ile851fs) rs2116145117
NM_000466.3(PEX1):c.2582del (p.Lys861fs)
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter) rs1057517485
NM_000466.3(PEX1):c.2692_2693del (p.Glu897_Ser898insTer) rs2116132444
NM_000466.3(PEX1):c.269del (p.Gly90fs) rs1275822594
NM_000466.3(PEX1):c.2738_2741dup (p.Tyr914Ter) rs2116110975
NM_000466.3(PEX1):c.2760del (p.Ala921fs) rs1256376226
NM_000466.3(PEX1):c.2783+1del
NM_000466.3(PEX1):c.2788C>T (p.Gln930Ter)
NM_000466.3(PEX1):c.2798dup (p.Pro934fs) rs1057517484
NM_000466.3(PEX1):c.2816_2817del (p.Phe938_Phe939insTer) rs1791555145
NM_000466.3(PEX1):c.2852dup (p.His951fs) rs767877383
NM_000466.3(PEX1):c.2859dup (p.Thr954fs) rs1057517472
NM_000466.3(PEX1):c.2861_2862dup (p.Gly955fs)
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter) rs1057517481
NM_000466.3(PEX1):c.2915_2916dup (p.Gly973fs)
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_000466.3(PEX1):c.2922del (p.Leu974fs) rs762324548
NM_000466.3(PEX1):c.2926+1del rs1791544171
NM_000466.3(PEX1):c.2977dup (p.Leu993fs) rs2116091859
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter) rs61750428
NM_000466.3(PEX1):c.2T>G (p.Met1Arg) rs766020928
NM_000466.3(PEX1):c.3003dup (p.Cys1002fs) rs1562847911
NM_000466.3(PEX1):c.3005_3011dup (p.Tyr1004Ter) rs2116091512
NM_000466.3(PEX1):c.3037C>T (p.Arg1013Cys) rs1791439311
NM_000466.3(PEX1):c.3068_3071del (p.Ser1023fs)
NM_000466.3(PEX1):c.3070_3071del (p.Leu1024fs) rs1312351030
NM_000466.3(PEX1):c.3094dup (p.Leu1032fs)
NM_000466.3(PEX1):c.3115del (p.Thr1039fs) rs1562846257
NM_000466.3(PEX1):c.3118_3121del (p.Asp1040fs)
NM_000466.3(PEX1):c.3152_3156del (p.Leu1051fs) rs2116077430
NM_000466.3(PEX1):c.3158dup (p.Asn1053fs) rs2116077400
NM_000466.3(PEX1):c.3180dup (p.Gly1061fs) rs61750430
NM_000466.3(PEX1):c.3205C>T (p.Gln1069Ter) rs1562846113
NM_000466.3(PEX1):c.3258_3261del (p.Phe1086fs)
NM_000466.3(PEX1):c.3258del (p.Asn1088fs) rs2116059954
NM_000466.3(PEX1):c.3259_3260del (p.Phe1086_Leu1087insTer) rs2116059937
NM_000466.3(PEX1):c.3261_3262insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCATCCTCCTGGCGGTCGGGCGGCGGCGGCTGCCTCAATGGTCTTTCTT (p.Leu1087_Asn1088insPhePhePhePhePhePheXaaXaaXaaXaaAlaAlaAlaLysThrGluThrAlaProLeuProAlaGluLeuHisProProGlyGlyArgAlaAlaAlaAlaAlaSerMetValPheLeu)
NM_000466.3(PEX1):c.3301G>T (p.Glu1101Ter) rs2116059303
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs) rs886043558
NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer) rs1585214453
NM_000466.3(PEX1):c.3400dup (p.Tyr1134fs)
NM_000466.3(PEX1):c.3409G>T (p.Glu1137Ter)
NM_000466.3(PEX1):c.3450T>A (p.Cys1150Ter) rs1459743428
NM_000466.3(PEX1):c.3455_3456del (p.Ser1152fs) rs759183382
NM_000466.3(PEX1):c.34G>T (p.Gly12Ter) rs1793402720
NM_000466.3(PEX1):c.3505C>T (p.Gln1169Ter)
NM_000466.3(PEX1):c.3505_3517del (p.Gln1169fs) rs727504076
NM_000466.3(PEX1):c.3530dup (p.Leu1177fs)
NM_000466.3(PEX1):c.357+1G>T rs866144313
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter) rs1057517467
NM_000466.3(PEX1):c.3592del (p.Ala1198fs)
NM_000466.3(PEX1):c.3622del (p.Arg1208fs) rs1791174009
NM_000466.3(PEX1):c.3624del (p.Ser1209fs)
NM_000466.3(PEX1):c.3691C>T (p.Gln1231Ter)
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs) rs769836601
NM_000466.3(PEX1):c.3767+2T>C
NM_000466.3(PEX1):c.3G>A (p.Met1Ile) rs786204704
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter) rs201415996
NM_000466.3(PEX1):c.43del (p.Ala15fs)
NM_000466.3(PEX1):c.46del (p.Ala16fs)
NM_000466.3(PEX1):c.538_541dup (p.Thr181fs) rs1792878019
NM_000466.3(PEX1):c.556G>T (p.Glu186Ter)
NM_000466.3(PEX1):c.568del (p.Ser190fs)
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter) rs1554375599
NM_000466.3(PEX1):c.56_57del (p.Val19fs)
NM_000466.3(PEX1):c.56_80del (p.Val19fs) rs1793398751
NM_000466.3(PEX1):c.607G>T (p.Gly203Ter) rs1472300213
NM_000466.3(PEX1):c.643_647del (p.Thr215fs) rs786204544
NM_000466.3(PEX1):c.651dup (p.Leu218fs)
NM_000466.3(PEX1):c.657_660del (p.Ser220fs) rs786205656
NM_000466.3(PEX1):c.786_787del (p.Glu262fs) rs2116245705
NM_000466.3(PEX1):c.788_789del (p.Thr263fs) rs61750404
NM_000466.3(PEX1):c.794G>A (p.Trp265Ter)
NM_000466.3(PEX1):c.819_835delinsGTCT (p.Phe273fs) rs1792860966
NM_000466.3(PEX1):c.821_824del (p.Lys274fs)
NM_000466.3(PEX1):c.831_834del (p.Ser278fs) rs2116245323
NM_000466.3(PEX1):c.833C>G (p.Ser278Ter)
NM_000466.3(PEX1):c.877C>T (p.Gln293Ter)
NM_000466.3(PEX1):c.894del (p.Ile297_Tyr298insTer)
NM_000466.3(PEX1):c.8dup (p.Ser4fs)
NM_000466.3(PEX1):c.911_912del (p.Ser304fs) rs786204638
NM_000466.3(PEX1):c.912dup (p.Val305fs)
NM_000466.3(PEX1):c.951G>A (p.Trp317Ter)
NM_000466.3(PEX1):c.955C>T (p.Gln319Ter) rs2116244185
NM_000466.3(PEX1):c.995_996del (p.Tyr332fs)

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