ClinVar Miner

List of variants in gene PEX5 studied for peroxisome biogenesis disorder 2A (Zellweger)

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_001351132.2(PEX5):c.*755C>G rs1057225 0.44145
NM_001351132.2(PEX5):c.967-26C>G rs3816424 0.29645
NM_001351132.2(PEX5):c.*141G>A rs3813737 0.14722
NM_001351132.2(PEX5):c.-17+290T>A rs113752912 0.07875
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr) rs76708142 0.02223
NM_001351132.2(PEX5):c.*75G>A rs112966367 0.01593
NM_001351132.2(PEX5):c.-17+188T>C rs186539500 0.01324
NM_001351132.2(PEX5):c.1718+13A>G rs116873137 0.01093
NM_001351132.2(PEX5):c.*960C>G rs78134587 0.01032
NM_001351132.2(PEX5):c.998G>A (p.Arg333His) rs59209175 0.00776
NM_001351132.2(PEX5):c.1632G>A (p.Ala544=) rs115338343 0.00644
NM_001351132.2(PEX5):c.*81A>C rs183460108 0.00529
NM_001351132.2(PEX5):c.*20G>C rs145760932 0.00512
NM_001351132.2(PEX5):c.*1097T>C rs116107198 0.00489
NM_001351132.2(PEX5):c.*114C>T rs187571620 0.00329
NM_001351132.2(PEX5):c.1053G>A (p.Leu351=) rs61740909 0.00290
NM_001351132.2(PEX5):c.1521C>T (p.Ala507=) rs150761638 0.00221
NM_001351132.2(PEX5):c.604G>C (p.Val202Leu) rs149102738 0.00209
NM_001351132.2(PEX5):c.-16-274G>A rs542096066 0.00191
NM_001351132.2(PEX5):c.*179A>G rs192786621 0.00155
NM_001351132.2(PEX5):c.*452G>C rs185474091 0.00134
NM_001351132.2(PEX5):c.*462G>C rs75145323 0.00089
NM_001131025.1(PEX5):c.*1251G>A rs538222740 0.00086
NM_001131025.1(PEX5):c.*1259G>C rs148385560 0.00080
NM_001351132.2(PEX5):c.-53T>C rs770339670 0.00065
NM_001351132.2(PEX5):c.*110G>A rs775495288 0.00056
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn) rs146567534 0.00047
NM_001351132.2(PEX5):c.552-7G>A rs189631769 0.00044
NM_001351132.2(PEX5):c.*1134T>A rs769928491 0.00041
NM_001351132.2(PEX5):c.754-4G>A rs111286659 0.00039
NM_001351132.2(PEX5):c.*137C>T rs773375737 0.00036
NM_001351132.2(PEX5):c.1707C>T (p.Leu569=) rs151312595 0.00035
NM_001351132.2(PEX5):c.590C>T (p.Thr197Met) rs144897942 0.00029
NM_001351132.2(PEX5):c.-17+273G>T rs117442311 0.00027
NM_001351132.2(PEX5):c.*627C>T rs146897980 0.00026
NM_001351132.2(PEX5):c.-5T>C rs371185376 0.00023
NM_001351132.2(PEX5):c.452C>G (p.Pro151Arg) rs200720523 0.00022
NM_001351132.2(PEX5):c.*322C>T rs764082627 0.00021
NM_001351132.2(PEX5):c.*495G>A rs776371289 0.00019
NM_001351132.2(PEX5):c.371C>G (p.Ala124Gly) rs143307183 0.00015
NM_001351132.2(PEX5):c.-17+71G>A rs927673107 0.00014
NM_001351132.2(PEX5):c.*132C>G rs753013794 0.00013
NM_001351132.2(PEX5):c.*296C>T rs758323453 0.00013
NM_001351132.2(PEX5):c.*891A>G rs371691416 0.00013
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser) rs139364109 0.00013
NM_001351132.2(PEX5):c.1522G>A (p.Val508Met) rs138028549 0.00011
NM_001351132.2(PEX5):c.496C>G (p.Gln166Glu) rs751043763 0.00011
NM_001351132.2(PEX5):c.966+3G>A rs373763823 0.00011
NM_001351132.2(PEX5):c.1653C>G (p.Leu551=) rs200215904 0.00010
NM_001351132.2(PEX5):c.1636C>T (p.Arg546Cys) rs759334733 0.00009
NM_001351132.2(PEX5):c.1875G>A (p.Ala625=) rs371233272 0.00009
NM_001351132.2(PEX5):c.*722G>A rs886049831 0.00006
NM_001351132.2(PEX5):c.1800G>A (p.Ser600=) rs370306007 0.00006
NM_001351132.2(PEX5):c.1873G>A (p.Ala625Thr) rs143600154 0.00006
NM_001351132.2(PEX5):c.1902G>A (p.Met634Ile) rs145886418 0.00006
NM_001351132.2(PEX5):c.230G>A (p.Arg77His) rs780957318 0.00006
NM_001351132.2(PEX5):c.421T>G (p.Ser141Ala) rs200475014 0.00006
NM_001351132.2(PEX5):c.967-15G>A rs201341037 0.00005
NM_001351132.2(PEX5):c.-16-149A>G rs1355750608 0.00004
NM_001351132.2(PEX5):c.1033C>T (p.Arg345Cys) rs199822160 0.00004
NM_001351132.2(PEX5):c.1352G>A (p.Gly451Glu) rs148266027 0.00004
NM_001351132.2(PEX5):c.*1139T>C rs886049836 0.00003
NM_001351132.2(PEX5):c.-17+185T>C rs779168691 0.00003
NM_001351132.2(PEX5):c.1279C>T (p.Arg427Ter) rs61752137 0.00003
NM_001351132.2(PEX5):c.1876C>T (p.Arg626Trp) rs148040746 0.00003
NM_001351132.2(PEX5):c.317-6T>C rs755945291 0.00003
NM_001351132.2(PEX5):c.1607A>G (p.Asn536Ser) rs749417845 0.00002
NM_001351132.2(PEX5):c.664A>G (p.Ile222Val) rs778800705 0.00002
NM_001351132.2(PEX5):c.909T>C (p.Ala303=) rs376649488 0.00002
NM_001351132.2(PEX5):c.*403C>T rs886049828 0.00001
NM_001351132.2(PEX5):c.*506T>C rs756345606 0.00001
NM_001351132.2(PEX5):c.*932A>T rs1329909340 0.00001
NM_001351132.2(PEX5):c.-17+102G>C rs747187521 0.00001
NM_001351132.2(PEX5):c.-17+240G>A rs754651589 0.00001
NM_001351132.2(PEX5):c.-17+249C>T rs939041822 0.00001
NM_001351132.2(PEX5):c.-17+65C>G rs1437620977 0.00001
NM_001351132.2(PEX5):c.1052T>C (p.Leu351Pro) rs1220028381 0.00001
NM_001351132.2(PEX5):c.1111-12A>G rs371599161 0.00001
NM_001351132.2(PEX5):c.1347G>C (p.Gly449=) rs778715159 0.00001
NM_001351132.2(PEX5):c.1545C>T (p.Leu515=) rs762815657 0.00001
NM_001351132.2(PEX5):c.1737T>C (p.Phe579=) rs753159772 0.00001
NM_001351132.2(PEX5):c.177A>C (p.Glu59Asp) rs755469133 0.00001
NM_001351132.2(PEX5):c.1870G>A (p.Asp624Asn) rs201963167 0.00001
NM_001351132.2(PEX5):c.*1080T>C rs755972180
NM_001351132.2(PEX5):c.*1089T>C rs886049834
NM_001351132.2(PEX5):c.*1134T>C rs769928491
NM_001351132.2(PEX5):c.*171A>G rs1945423860
NM_001351132.2(PEX5):c.*1C>T rs886049827
NM_001351132.2(PEX5):c.*249C>G rs1945433657
NM_001351132.2(PEX5):c.*61C>A rs746752569
NM_001351132.2(PEX5):c.*628G>A rs12316371
NM_001351132.2(PEX5):c.*628G>C rs12316371
NM_001351132.2(PEX5):c.*677G>T rs886049830
NM_001351132.2(PEX5):c.*766C>T rs764837013
NM_001351132.2(PEX5):c.-17+151G>A rs146875386
NM_001351132.2(PEX5):c.-17+40T>C rs796452917
NM_001351132.2(PEX5):c.-20C>G rs12227917
NM_001351132.2(PEX5):c.-49G>A rs886049823
NM_001351132.2(PEX5):c.-49G>T rs886049823
NM_001351132.2(PEX5):c.-55C>G rs886049822
NM_001351132.2(PEX5):c.-69C>T rs886049821
NM_001351132.2(PEX5):c.135_147+33delinsC rs2135880243
NM_001351132.2(PEX5):c.1395-14T>C rs1945174737
NM_001351132.2(PEX5):c.1413G>C (p.Val471=) rs115760878
NM_001351132.2(PEX5):c.147+4A>G
NM_001351132.2(PEX5):c.147+77_147+121del
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys) rs61752138
NM_001351132.2(PEX5):c.1850G>C (p.Ser617Thr) rs751637149
NM_001351132.2(PEX5):c.48G>C (p.Pro16=) rs147958315
NM_001351132.2(PEX5):c.498A>G (p.Gln166=) rs756714515
NM_001351132.2(PEX5):c.533G>A (p.Gly178Glu) rs749729761
NM_001351132.2(PEX5):c.643-5C>T rs886049826
NM_001351132.2(PEX5):c.708C>T (p.Gly236=) rs778009052
NM_001351132.2(PEX5):c.730G>T (p.Ala244Ser) rs1944190059
NM_001351132.2(PEX5):c.88C>T (p.Leu30Phe) rs1940821861

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