ClinVar Miner

List of variants in gene combination GATAD1, PEX1 reported as pathogenic for peroxisomal disease

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.2926+1G>A rs267608179 0.00006
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln) rs61750425 0.00004
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427 0.00003
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp) rs866184460 0.00001
NM_000466.3(PEX1):c.2926+2T>C rs267608180 0.00001
NC_000007.14:g.(?_92489273)_(92491522_?)del
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.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.3287C>G (p.Ser1096Ter)
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.3379dup (p.Arg1127fs) rs794729652
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.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.3568C>T (p.Gln1190Ter) rs1281995042
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter) rs1057517467
NM_000466.3(PEX1):c.3579del (p.Asp1194fs) rs1554366802
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

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