ClinVar Miner

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

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.2926+1G>A rs267608179 0.00006
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.