ClinVar Miner

List of variants in gene PEX7 reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 286
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000288.4(PEX7):c.340-103A>G rs2295592 0.10001
NM_000288.4(PEX7):c.-31G>A rs115866467 0.02411
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_000288.4(PEX7):c.*38G>A rs41288965 0.00188
NM_000288.4(PEX7):c.*272A>G rs186705952 0.00145
NM_000288.4(PEX7):c.130+11G>A rs886061119 0.00079
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418 0.00011
NM_000288.4(PEX7):c.526+19A>G rs760557944 0.00010
NM_000288.4(PEX7):c.315A>T (p.Gln105His) rs767901695 0.00007
NM_000288.4(PEX7):c.*115A>G rs41288967 0.00006
NM_000288.4(PEX7):c.126C>T (p.Ile42=) rs1464741803 0.00006
NM_000288.4(PEX7):c.237C>T (p.Asn79=) rs752745963 0.00005
NM_000288.4(PEX7):c.171G>C (p.Gly57=) rs750791932 0.00004
NM_000288.4(PEX7):c.418-18C>G rs747545013 0.00004
NM_000288.4(PEX7):c.630T>C (p.Asn210=) rs1466368201 0.00004
NM_000288.4(PEX7):c.804-5C>T rs369653173 0.00004
NM_000288.4(PEX7):c.340-8G>A rs528317074 0.00003
NM_000288.4(PEX7):c.576C>T (p.Ile192=) rs776411851 0.00003
NM_000288.4(PEX7):c.648C>T (p.Thr216=) rs754226264 0.00003
NM_000288.4(PEX7):c.804-19C>T rs768001113 0.00003
NM_000288.4(PEX7):c.867T>C (p.Thr289=) rs936175997 0.00003
NM_000288.4(PEX7):c.903+13A>G rs780555523 0.00003
NM_000288.4(PEX7):c.903+8A>G rs779919482 0.00003
NM_000288.4(PEX7):c.111G>A (p.Ala37=) rs1434570255 0.00002
NM_000288.4(PEX7):c.159A>G (p.Pro53=) rs767077870 0.00002
NM_000288.4(PEX7):c.243T>C (p.His81=) rs749192451 0.00002
NM_000288.4(PEX7):c.685A>C (p.Arg229=) rs772891476 0.00002
NM_000288.4(PEX7):c.748-9T>C rs777611969 0.00002
NM_000288.4(PEX7):c.786G>A (p.Ser262=) rs751419048 0.00002
NM_000288.4(PEX7):c.971G>A (p.Ter324=) rs374574552 0.00002
NM_000288.4(PEX7):c.131-8C>T rs765917993 0.00001
NM_000288.4(PEX7):c.144A>G (p.Leu48=) rs1409718476 0.00001
NM_000288.4(PEX7):c.168T>A (p.Ala56=) rs1159376627 0.00001
NM_000288.4(PEX7):c.189-17G>A rs775125126 0.00001
NM_000288.4(PEX7):c.240A>G (p.Glu80=) rs777854575 0.00001
NM_000288.4(PEX7):c.258T>C (p.Cys86=) rs1220745269 0.00001
NM_000288.4(PEX7):c.264C>T (p.Gly88=) rs775319689 0.00001
NM_000288.4(PEX7):c.297A>G (p.Lys99=) rs766858149 0.00001
NM_000288.4(PEX7):c.309A>G (p.Pro103=) rs1285377553 0.00001
NM_000288.4(PEX7):c.30G>A (p.Arg10=) rs1330254343 0.00001
NM_000288.4(PEX7):c.324A>G (p.Lys108=) rs1330909297 0.00001
NM_000288.4(PEX7):c.34C>T (p.Leu12=) rs1325714867 0.00001
NM_000288.4(PEX7):c.387G>T (p.Val129=) rs772635570 0.00001
NM_000288.4(PEX7):c.393C>T (p.Gly131=) rs761074779 0.00001
NM_000288.4(PEX7):c.417+9G>A rs766476163 0.00001
NM_000288.4(PEX7):c.42G>A (p.Thr14=) rs1253900568 0.00001
NM_000288.4(PEX7):c.447C>T (p.Cys149=) rs755710614 0.00001
NM_000288.4(PEX7):c.450C>T (p.Thr150=) rs1774593832 0.00001
NM_000288.4(PEX7):c.527-12C>G rs1290336763 0.00001
NM_000288.4(PEX7):c.634-7T>C rs367566981 0.00001
NM_000288.4(PEX7):c.63C>T (p.Ala21=) rs935581914 0.00001
NM_000288.4(PEX7):c.681C>T (p.Asp227=) rs1236779327 0.00001
NM_000288.4(PEX7):c.726C>T (p.Thr242=) rs762238818 0.00001
NM_000288.4(PEX7):c.748-10T>C rs886061122 0.00001
NM_000288.4(PEX7):c.748-14T>A rs1362218138 0.00001
NM_000288.4(PEX7):c.748-17T>C rs1562746798 0.00001
NM_000288.4(PEX7):c.78G>A (p.Pro26=) rs1774100373 0.00001
NM_000288.4(PEX7):c.798T>C (p.Thr266=) rs1173582316 0.00001
NM_000288.4(PEX7):c.82C>T (p.Leu28=) rs754348931 0.00001
NM_000288.4(PEX7):c.843A>G (p.Thr281=) rs767903764 0.00001
NM_000288.4(PEX7):c.903+10A>G rs747530925 0.00001
NM_000288.4(PEX7):c.96G>A (p.Leu32=) rs1397119638 0.00001
NM_000288.4(PEX7):c.9G>C (p.Ala3=) rs1475959844 0.00001
NM_000288.4(PEX7):c.105C>T (p.Ala35=)
NM_000288.4(PEX7):c.108C>G (p.Thr36=)
NM_000288.4(PEX7):c.117C>T (p.His39=) rs779353296
NM_000288.4(PEX7):c.120C>T (p.Tyr40=) rs61753238
NM_000288.4(PEX7):c.123C>A (p.Gly41=)
NM_000288.4(PEX7):c.12G>A (p.Val4=) rs2115122241
NM_000288.4(PEX7):c.130+10C>A rs794726882
NM_000288.4(PEX7):c.130+10CGC[3]
NM_000288.4(PEX7):c.130+10_130+36dup
NM_000288.4(PEX7):c.130+11G>T rs886061119
NM_000288.4(PEX7):c.130+12C>T
NM_000288.4(PEX7):c.130+13C>A rs886061120
NM_000288.4(PEX7):c.130+13C>G
NM_000288.4(PEX7):c.130+13C>T
NM_000288.4(PEX7):c.130+15C>T
NM_000288.4(PEX7):c.130+16G>C
NM_000288.4(PEX7):c.130+16G>T
NM_000288.4(PEX7):c.130+20C>T
NM_000288.4(PEX7):c.130+32_130+51del rs1554328334
NM_000288.4(PEX7):c.130+7C>G
NM_000288.4(PEX7):c.130+7C>T
NM_000288.4(PEX7):c.130+8G>A
NM_000288.4(PEX7):c.130+8G>C rs1222036777
NM_000288.4(PEX7):c.130+9G>A rs1184848577
NM_000288.4(PEX7):c.130+9G>C rs1184848577
NM_000288.4(PEX7):c.131-10T>C rs2115129012
NM_000288.4(PEX7):c.131-13T>A rs1256206160
NM_000288.4(PEX7):c.131-16T>C
NM_000288.4(PEX7):c.131-4_131-3del rs768349731
NM_000288.4(PEX7):c.131-6C>G rs2115129034
NM_000288.4(PEX7):c.131-7T>A rs2115129029
NM_000288.4(PEX7):c.131-8C>G rs765917993
NM_000288.4(PEX7):c.151T>C (p.Leu51=)
NM_000288.4(PEX7):c.15C>T (p.Cys5=)
NM_000288.4(PEX7):c.168T>C (p.Ala56=)
NM_000288.4(PEX7):c.171G>T (p.Gly57=) rs750791932
NM_000288.4(PEX7):c.172C>T (p.Leu58=)
NM_000288.4(PEX7):c.175A>C (p.Arg59=)
NM_000288.4(PEX7):c.188+8G>A
NM_000288.4(PEX7):c.189-10C>T
NM_000288.4(PEX7):c.189-16T>A
NM_000288.4(PEX7):c.189-20T>C
NM_000288.4(PEX7):c.189-4G>A
NM_000288.4(PEX7):c.189-7A>G rs2115131688
NM_000288.4(PEX7):c.189-8T>A rs2115131680
NM_000288.4(PEX7):c.189-9C>T
NM_000288.4(PEX7):c.18T>G (p.Gly6=)
NM_000288.4(PEX7):c.201T>C (p.Asn67=)
NM_000288.4(PEX7):c.208T>C (p.Leu70=)
NM_000288.4(PEX7):c.216T>C (p.Asp72=) rs1582732837
NM_000288.4(PEX7):c.21A>G (p.Gly7=)
NM_000288.4(PEX7):c.234C>A (p.Asn78Lys) rs560350898
NM_000288.4(PEX7):c.246C>T (p.Val82=)
NM_000288.4(PEX7):c.24G>A (p.Ala8=)
NM_000288.4(PEX7):c.24G>C (p.Ala8=) rs978818225
NM_000288.4(PEX7):c.24G>T (p.Ala8=) rs978818225
NM_000288.4(PEX7):c.255C>G (p.Thr85=)
NM_000288.4(PEX7):c.255C>T (p.Thr85=)
NM_000288.4(PEX7):c.261T>C (p.Ser87=)
NM_000288.4(PEX7):c.264C>A (p.Gly88=)
NM_000288.4(PEX7):c.273G>A (p.Ser91=) rs532273900
NM_000288.4(PEX7):c.273G>C (p.Ser91=) rs532273900
NM_000288.4(PEX7):c.279G>A (p.Gln93=)
NM_000288.4(PEX7):c.27G>A (p.Ala9=) rs2115122332
NM_000288.4(PEX7):c.27G>C (p.Ala9=)
NM_000288.4(PEX7):c.300T>C (p.Ala100=) rs2115132127
NM_000288.4(PEX7):c.310C>T (p.Leu104=) rs2115132172
NM_000288.4(PEX7):c.315A>G (p.Gln105=) rs767901695
NM_000288.4(PEX7):c.327A>G (p.Glu109=)
NM_000288.4(PEX7):c.330C>T (p.His110=) rs199648976
NM_000288.4(PEX7):c.336G>A (p.Gln112=)
NM_000288.4(PEX7):c.339+10A>C rs374668045
NM_000288.4(PEX7):c.339+14C>A
NM_000288.4(PEX7):c.339+15T>A
NM_000288.4(PEX7):c.339+17T>C
NM_000288.4(PEX7):c.339+19T>C rs2115132321
NM_000288.4(PEX7):c.339+20G>A
NM_000288.4(PEX7):c.339+9G>C
NM_000288.4(PEX7):c.340-12C>A
NM_000288.4(PEX7):c.340-14T>C
NM_000288.4(PEX7):c.340-9T>C
NM_000288.4(PEX7):c.387G>A (p.Val129=)
NM_000288.4(PEX7):c.396A>G (p.Ser132=) rs1774583856
NM_000288.4(PEX7):c.39G>A (p.Arg13=)
NM_000288.4(PEX7):c.408T>C (p.Thr136=) rs776675774
NM_000288.4(PEX7):c.411C>G (p.Val137=)
NM_000288.4(PEX7):c.417+19A>G
NM_000288.4(PEX7):c.417+7T>C rs2115170673
NM_000288.4(PEX7):c.417+8A>G rs1162725998
NM_000288.4(PEX7):c.418-10T>C rs2115171417
NM_000288.4(PEX7):c.418-15T>A
NM_000288.4(PEX7):c.418-16A>C
NM_000288.4(PEX7):c.418-18C>T
NM_000288.4(PEX7):c.418-4G>A rs199552223
NM_000288.4(PEX7):c.429T>G (p.Thr143=)
NM_000288.4(PEX7):c.444G>A (p.Leu148=) rs2115171520
NM_000288.4(PEX7):c.459C>G (p.Gly153=)
NM_000288.4(PEX7):c.462T>C (p.His154=) rs753312829
NM_000288.4(PEX7):c.465A>G (p.Glu155=) rs1582745048
NM_000288.4(PEX7):c.477T>C (p.Tyr159=)
NM_000288.4(PEX7):c.480C>T (p.Ser160=) rs2115171668
NM_000288.4(PEX7):c.486C>T (p.Ile162=)
NM_000288.4(PEX7):c.48A>G (p.Gly16=)
NM_000288.4(PEX7):c.492T>G (p.Ser164=)
NM_000288.4(PEX7):c.495C>G (p.Pro165=) rs2115171713
NM_000288.4(PEX7):c.498C>T (p.His166=)
NM_000288.4(PEX7):c.504T>C (p.Pro168=) rs770113657
NM_000288.4(PEX7):c.507T>C (p.Gly169=)
NM_000288.4(PEX7):c.513T>C (p.Phe171=) rs2115171775
NM_000288.4(PEX7):c.516T>C (p.Ala172=) rs2115171786
NM_000288.4(PEX7):c.516T>G (p.Ala172=) rs2115171786
NM_000288.4(PEX7):c.519A>G (p.Ser173=)
NM_000288.4(PEX7):c.519A>T (p.Ser173=) rs2115171796
NM_000288.4(PEX7):c.526+12T>C
NM_000288.4(PEX7):c.526+15A>G
NM_000288.4(PEX7):c.526+7T>A
NM_000288.4(PEX7):c.526+8A>T
NM_000288.4(PEX7):c.526+9T>C
NM_000288.4(PEX7):c.527-11C>G
NM_000288.4(PEX7):c.527-11C>T
NM_000288.4(PEX7):c.527-15C>T rs771346363
NM_000288.4(PEX7):c.527-17G>A
NM_000288.4(PEX7):c.527-5A>G rs1222228219
NM_000288.4(PEX7):c.54C>T (p.His18=) rs1188167149
NM_000288.4(PEX7):c.558G>A (p.Lys186=)
NM_000288.4(PEX7):c.561A>G (p.Ala187=) rs2115216726
NM_000288.4(PEX7):c.570A>G (p.Val190=) rs1392688180
NM_000288.4(PEX7):c.57C>T (p.Gly19=) rs2115122524
NM_000288.4(PEX7):c.597A>G (p.Ala199=) rs1775078603
NM_000288.4(PEX7):c.609T>C (p.Ser203=)
NM_000288.4(PEX7):c.60C>T (p.Tyr20=) rs1057516882
NM_000288.4(PEX7):c.633+11T>G
NM_000288.4(PEX7):c.633+15del
NM_000288.4(PEX7):c.633+16C>T
NM_000288.4(PEX7):c.633+17T>C
NM_000288.4(PEX7):c.633+18A>G
NM_000288.4(PEX7):c.633+20C>T
NM_000288.4(PEX7):c.633+5_633+8dup
NM_000288.4(PEX7):c.633+7T>C rs1189483255
NM_000288.4(PEX7):c.633+8G>A rs2115216969
NM_000288.4(PEX7):c.634-13G>C
NM_000288.4(PEX7):c.634-16T>G
NM_000288.4(PEX7):c.634-4_634-3del
NM_000288.4(PEX7):c.634-8G>C
NM_000288.4(PEX7):c.634-9T>C
NM_000288.4(PEX7):c.636T>C (p.Asn212=) rs2115224289
NM_000288.4(PEX7):c.639G>A (p.Leu213=) rs2115224297
NM_000288.4(PEX7):c.63C>A (p.Ala21=) rs935581914
NM_000288.4(PEX7):c.63C>G (p.Ala21=) rs935581914
NM_000288.4(PEX7):c.640C>T (p.Leu214=) rs1582759870
NM_000288.4(PEX7):c.648C>G (p.Thr216=) rs754226264
NM_000288.4(PEX7):c.654G>T (p.Ala218=) rs1414537422
NM_000288.4(PEX7):c.66C>G (p.Ala22=)
NM_000288.4(PEX7):c.66C>T (p.Ala22=) rs1208528237
NM_000288.4(PEX7):c.672A>G (p.Arg224=) rs747145944
NM_000288.4(PEX7):c.690T>C (p.Asn230=) rs762666939
NM_000288.4(PEX7):c.699A>G (p.Gln233=) rs2115224521
NM_000288.4(PEX7):c.69G>A (p.Glu23=)
NM_000288.4(PEX7):c.702A>G (p.Pro234=)
NM_000288.4(PEX7):c.705G>T (p.Val235=)
NM_000288.4(PEX7):c.717T>A (p.Leu239=)
NM_000288.4(PEX7):c.72C>T (p.Phe24=) rs1774100078
NM_000288.4(PEX7):c.739A>C (p.Arg247=) rs2115224658
NM_000288.4(PEX7):c.741G>A (p.Arg247=) rs201562684
NM_000288.4(PEX7):c.747+10C>T rs2115224694
NM_000288.4(PEX7):c.747+11A>G
NM_000288.4(PEX7):c.747+11A>T rs370027126
NM_000288.4(PEX7):c.747+18C>T
NM_000288.4(PEX7):c.748-13T>C
NM_000288.4(PEX7):c.748-14T>C
NM_000288.4(PEX7):c.748-16C>A
NM_000288.4(PEX7):c.748-16_748-14del rs2115228612
NM_000288.4(PEX7):c.748-4G>T rs74658757
NM_000288.4(PEX7):c.748-6T>G
NM_000288.4(PEX7):c.759T>C (p.Phe253=) rs1237865567
NM_000288.4(PEX7):c.75C>T (p.Ser25=) rs1774100185
NM_000288.4(PEX7):c.765T>G (p.Ala255=)
NM_000288.4(PEX7):c.772C>T (p.Leu258=)
NM_000288.4(PEX7):c.777C>G (p.Ala259=) rs2115228915
NM_000288.4(PEX7):c.780T>C (p.Ser260=) rs2115228945
NM_000288.4(PEX7):c.783C>T (p.Cys261=)
NM_000288.4(PEX7):c.789T>C (p.Tyr263=) rs2115229029
NM_000288.4(PEX7):c.803+14dup rs777087989
NM_000288.4(PEX7):c.803+20A>C
NM_000288.4(PEX7):c.803+9G>A
NM_000288.4(PEX7):c.803+9_803+10del rs2115229196
NM_000288.4(PEX7):c.804-10A>G
NM_000288.4(PEX7):c.804-12T>C
NM_000288.4(PEX7):c.804-14A>G
NM_000288.4(PEX7):c.804-8C>G rs2115272911
NM_000288.4(PEX7):c.804-9T>C
NM_000288.4(PEX7):c.813C>T (p.Asn271=) rs2115272944
NM_000288.4(PEX7):c.81C>T (p.Tyr27=) rs1057516737
NM_000288.4(PEX7):c.822G>A (p.Lys274=) rs2115272962
NM_000288.4(PEX7):c.828C>T (p.Asp276=)
NM_000288.4(PEX7):c.84G>A (p.Leu28=) rs1167579335
NM_000288.4(PEX7):c.84G>C (p.Leu28=)
NM_000288.4(PEX7):c.855T>C (p.His285=) rs2115273033
NM_000288.4(PEX7):c.858A>G (p.Thr286=)
NM_000288.4(PEX7):c.861G>A (p.Glu287=)
NM_000288.4(PEX7):c.870T>C (p.Cys290=)
NM_000288.4(PEX7):c.876A>G (p.Leu292=)
NM_000288.4(PEX7):c.87G>A (p.Pro29=)
NM_000288.4(PEX7):c.87G>C (p.Pro29=)
NM_000288.4(PEX7):c.882C>T (p.Phe294=) rs1775686747
NM_000288.4(PEX7):c.900T>A (p.Thr300=)
NM_000288.4(PEX7):c.903+10A>T rs747530925
NM_000288.4(PEX7):c.903+12A>G
NM_000288.4(PEX7):c.903+20G>A
NM_000288.4(PEX7):c.903+7G>T rs1227993935
NM_000288.4(PEX7):c.903+8A>T
NM_000288.4(PEX7):c.904-16C>T
NM_000288.4(PEX7):c.904-20_904-17del
NM_000288.4(PEX7):c.904-4C>G rs1775964629
NM_000288.4(PEX7):c.904-9G>A rs1175458353
NM_000288.4(PEX7):c.90C>A (p.Gly30=) rs2115122724
NM_000288.4(PEX7):c.90C>T (p.Gly30=) rs2115122724
NM_000288.4(PEX7):c.951T>C (p.Ala317=) rs2115300178
NM_000288.4(PEX7):c.957T>C (p.Leu319=) rs1275603952
NM_000288.4(PEX7):c.960T>C (p.Thr320=)
NM_000288.4(PEX7):c.960T>G (p.Thr320=)
NM_000288.4(PEX7):c.969T>A (p.Ala323=)
NM_000288.4(PEX7):c.9G>A (p.Ala3=) rs1475959844

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