ClinVar Miner

List of variants in gene PEX1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 191
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_000466.3(PEX1):c.1804-144A>T rs6465359 0.91679
NM_000466.3(PEX1):c.1359+155C>A rs38807 0.87539
NM_000466.3(PEX1):c.358-15G>A rs38809 0.86650
NM_000466.3(PEX1):c.2584-245A>T rs10953071 0.86496
NM_000466.3(PEX1):c.1670+219T>C rs11767684 0.31565
NM_000466.3(PEX1):c.1484-36G>A rs2111200 0.25489
NM_000466.3(PEX1):c.1671-314C>T rs7791858 0.24006
NM_000466.3(PEX1):c.2718+183C>A rs10269874 0.12962
NM_000466.3(PEX1):c.1804-28G>A rs10236856 0.07802
NM_000466.3(PEX1):c.1803+235A>G rs7809455 0.05706
NM_000466.3(PEX1):c.2417-42T>C rs3213609 0.05567
NM_000466.3(PEX1):c.2719-244G>A rs73710409 0.05413
NM_000466.3(PEX1):c.358-11G>C rs113104510 0.04153
NM_000466.3(PEX1):c.1240-279G>A rs112904813 0.04145
NM_000466.3(PEX1):c.473-18G>A rs2066743 0.03344
NM_000466.3(PEX1):c.1360-209G>A rs6946364 0.03237
NM_000466.3(PEX1):c.1360-336A>C rs61492841 0.02935
NM_000466.3(PEX1):c.2718+134A>G rs76587269 0.02817
NM_000466.3(PEX1):c.2584-20T>A rs111535201 0.02687
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821 0.02553
NM_000466.3(PEX1):c.2226+139A>G rs111474000 0.01659
NM_000466.3(PEX1):c.1671-7T>C rs74519968 0.01312
NM_000466.3(PEX1):c.1239+161C>G rs113848550 0.00886
NM_000466.3(PEX1):c.812A>G (p.Asn271Ser) rs138183109 0.00874
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys) rs112822975 0.00803
NM_000466.3(PEX1):c.1484-106A>G rs200489532 0.00720
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe) rs142838522 0.00270
NM_000466.3(PEX1):c.934A>G (p.Ile312Val) rs146312634 0.00223
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821 0.00218
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946 0.00216
NM_000466.3(PEX1):c.473-3C>T rs150576000 0.00213
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe) rs141798874 0.00185
NM_000466.3(PEX1):c.2645C>T (p.Pro882Leu) rs141764012 0.00066
NM_000466.3(PEX1):c.645C>G (p.Thr215=) rs151041559 0.00066
NM_000466.3(PEX1):c.1360-4G>T rs199716270 0.00038
NM_000466.3(PEX1):c.939T>C (p.His313=) rs199647157 0.00034
NM_000466.3(PEX1):c.1360-7C>T rs371890000 0.00029
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000466.3(PEX1):c.1725G>A (p.Leu575=) rs150667796 0.00022
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=) rs201719745 0.00022
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val) rs145350631 0.00021
NM_000466.3(PEX1):c.2584-9G>T rs370692491 0.00020
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile) rs141510219 0.00016
NM_000466.3(PEX1):c.293C>T (p.Ser98Phe) rs369100815 0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn) rs143273433 0.00014
NM_000466.3(PEX1):c.159C>T (p.His53=) rs200950057 0.00014
NM_000466.3(PEX1):c.1271T>C (p.Ile424Thr) rs201807430 0.00013
NM_000466.3(PEX1):c.891A>G (p.Ile297Met) rs143206380 0.00013
NM_000466.3(PEX1):c.1587+5T>C rs199526105 0.00011
NM_000466.3(PEX1):c.1815A>G (p.Lys605=) rs112688556 0.00011
NM_000466.3(PEX1):c.2060G>A (p.Arg687Gln) rs201443294 0.00011
NM_000466.3(PEX1):c.2509C>T (p.Leu837=) rs371701421 0.00010
NM_000466.3(PEX1):c.2021C>T (p.Pro674Leu) rs141509344 0.00007
NM_000466.3(PEX1):c.1042A>G (p.Thr348Ala) rs371309198 0.00006
NM_000466.3(PEX1):c.1256G>A (p.Arg419Lys) rs748937542 0.00006
NM_000466.3(PEX1):c.1284C>T (p.Ala428=) rs145153467 0.00006
NM_000466.3(PEX1):c.2750C>T (p.Ala917Val) rs371327573 0.00006
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn) rs372485912 0.00006
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile) rs139919229 0.00005
NM_000466.3(PEX1):c.147G>A (p.Val49=) rs202230667 0.00005
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418 0.00005
NM_000466.3(PEX1):c.2124G>C (p.Leu708=) rs200258130 0.00004
NM_000466.3(PEX1):c.2296G>A (p.Asp766Asn) rs374010060 0.00004
NM_000466.3(PEX1):c.2675G>A (p.Gly892Glu) rs769356901 0.00004
NM_000466.3(PEX1):c.611G>A (p.Arg204Lys) rs369126779 0.00004
NM_000466.3(PEX1):c.1283C>T (p.Ala428Val) rs376883207 0.00003
NM_000466.3(PEX1):c.1913A>C (p.Glu638Ala) rs775544654 0.00003
NM_000466.3(PEX1):c.2268A>G (p.Lys756=) rs1434174453 0.00003
NM_000466.3(PEX1):c.254G>A (p.Gly85Glu) rs771224088 0.00003
NM_000466.3(PEX1):c.2646G>A (p.Pro882=) rs775421085 0.00003
NM_000466.3(PEX1):c.721del (p.Ser241fs) rs894289737 0.00003
NM_000466.3(PEX1):c.889A>G (p.Ile297Val) rs181796768 0.00003
NM_000466.3(PEX1):c.1239+1G>T rs756876301 0.00002
NM_000466.3(PEX1):c.1240A>G (p.Ile414Val) rs759491353 0.00002
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp) rs398123408 0.00002
NM_000466.3(PEX1):c.2730del (p.Leu910fs) rs61750423 0.00002
NM_000466.3(PEX1):c.357G>A (p.Leu119=) rs1485077349 0.00002
NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) rs773922257 0.00002
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142 0.00002
NM_000466.3(PEX1):c.1187A>G (p.Asn396Ser) rs398123407 0.00001
NM_000466.3(PEX1):c.1199A>T (p.Tyr400Phe) rs772086409 0.00001
NM_000466.3(PEX1):c.1407G>T (p.Trp469Cys) rs746349696 0.00001
NM_000466.3(PEX1):c.1412A>G (p.Gln471Arg) rs1219227236 0.00001
NM_000466.3(PEX1):c.1507A>G (p.Ile503Val) rs771520057 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000466.3(PEX1):c.2071+1G>T rs267608177 0.00001
NM_000466.3(PEX1):c.2084T>C (p.Met695Thr) rs112747515 0.00001
NM_000466.3(PEX1):c.2195A>G (p.Gln732Arg) rs147069266 0.00001
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter) rs398123409 0.00001
NM_000466.3(PEX1):c.2363T>C (p.Val788Ala) rs886062505 0.00001
NM_000466.3(PEX1):c.2375T>C (p.Ile792Thr) rs747899377 0.00001
NM_000466.3(PEX1):c.2408C>T (p.Thr803Ile) rs750911436 0.00001
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter) rs61750422 0.00001
NM_000466.3(PEX1):c.2636T>C (p.Leu879Ser) rs1362906637 0.00001
NM_000466.3(PEX1):c.2687G>A (p.Arg896Gln) rs748798206 0.00001
NM_000466.3(PEX1):c.282C>G (p.Leu94=) rs201368809 0.00001
NM_000466.3(PEX1):c.706_720del (p.Pro236_Ser240del) rs754890130 0.00001
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg) rs886062506 0.00001
GRCh37/hg19 7q21.2(chr7:92119403-92149555)x3
NM_000466.2(PEX1):c.2010_2018del (p.Ala672_Pro674del) rs1357462196
NM_000466.3(PEX1):c.1070A>C (p.Lys357Thr) rs2116243553
NM_000466.3(PEX1):c.1077G>T (p.Lys359Asn) rs138905930
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.1111A>T (p.Arg371Trp) rs769973410
NM_000466.3(PEX1):c.1131del (p.Asp378fs) rs886043479
NM_000466.3(PEX1):c.1141G>C (p.Ala381Pro)
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp) rs73404416
NM_000466.3(PEX1):c.1183A>G (p.Asn395Asp) rs769902926
NM_000466.3(PEX1):c.1230G>A (p.Gly410=) rs539382251
NM_000466.3(PEX1):c.1246G>A (p.Asp416Asn) rs1562862971
NM_000466.3(PEX1):c.130-180del rs71841826
NM_000466.3(PEX1):c.130-2A>G rs1585260993
NM_000466.3(PEX1):c.1359+5G>A rs727504077
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
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.1434T>G (p.Leu478=) rs757668497
NM_000466.3(PEX1):c.1472A>C (p.Glu491Ala)
NM_000466.3(PEX1):c.1484-11_1484-6del rs766638581
NM_000466.3(PEX1):c.1484-95del rs5885807
NM_000466.3(PEX1):c.1484-96_1484-95del rs5885807
NM_000466.3(PEX1):c.1627G>A (p.Glu543Lys) rs767103504
NM_000466.3(PEX1):c.1670+193del rs202132988
NM_000466.3(PEX1):c.1671-120del rs79143453
NM_000466.3(PEX1):c.1671-66dup rs79002315
NM_000466.3(PEX1):c.1699T>G (p.Leu567Val) rs775665629
NM_000466.3(PEX1):c.1742G>A (p.Arg581Gln) rs370483961
NM_000466.3(PEX1):c.1743_1796del (p.Gln582_Gly599del) rs1554372756
NM_000466.3(PEX1):c.1803+185_1803+187del rs150645900
NM_000466.3(PEX1):c.1803+1G>T rs1562857871
NM_000466.3(PEX1):c.1823T>C (p.Leu608Ser)
NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs) rs1554372561
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.1892C>A (p.Ala631Asp) rs745554964
NM_000466.3(PEX1):c.1899A>T (p.Arg633=) rs2116175839
NM_000466.3(PEX1):c.1900+142_1900+143insTCTTAGAAATTTTAAG rs11269897
NM_000466.3(PEX1):c.1900+2T>C rs1562857198
NM_000466.3(PEX1):c.1951G>A (p.Ala651Thr) rs1562856189
NM_000466.3(PEX1):c.1954G>T (p.Val652Leu) rs559310827
NM_000466.3(PEX1):c.1975G>T (p.Val659Phe) rs193221288
NM_000466.3(PEX1):c.1976T>G (p.Val659Gly) rs1792104355
NM_000466.3(PEX1):c.2017G>C (p.Val673Leu)
NM_000466.3(PEX1):c.2019C>G (p.Val673=)
NM_000466.3(PEX1):c.2039del (p.Pro680fs) rs1269903353
NM_000466.3(PEX1):c.2083_2084del (p.Met695fs) rs2116156265
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2176C>T (p.Gln726Ter) rs786205655
NM_000466.3(PEX1):c.2205A>G (p.Gln735=) rs201308230
NM_000466.3(PEX1):c.2226+2T>C rs1792005848
NM_000466.3(PEX1):c.2226+57del rs138118520
NM_000466.3(PEX1):c.2226G>C (p.Gln742His)
NM_000466.3(PEX1):c.2227-11T>A rs760316851
NM_000466.3(PEX1):c.2227-3T>A
NM_000466.3(PEX1):c.2234G>T (p.Arg745Ile) rs1562854190
NM_000466.3(PEX1):c.2368C>G (p.Arg790Gly) rs61750417
NM_000466.3(PEX1):c.2396dup (p.Ser800fs) rs778871894
NM_000466.3(PEX1):c.2426del (p.Val808_Leu809insTer) rs1791933271
NM_000466.3(PEX1):c.2468del (p.Pro823fs) rs766947924
NM_000466.3(PEX1):c.2542G>T (p.Val848Phe)
NM_000466.3(PEX1):c.2583+136del rs3842627
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000466.3(PEX1):c.2584-11_2584-10del rs5885806
NM_000466.3(PEX1):c.2584-21dup rs5885806
NM_000466.3(PEX1):c.2584-9_2584-8del rs1554370144
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.2693G>A (p.Ser898Asn) rs1791831263
NM_000466.3(PEX1):c.2708T>C (p.Ile903Thr)
NM_000466.3(PEX1):c.2719-4A>G
NM_000466.3(PEX1):c.2724dup (p.Glu909fs) rs1554369227
NM_000466.3(PEX1):c.273G>A (p.Gln91=) rs1562869817
NM_000466.3(PEX1):c.363G>A (p.Leu121=) rs200866361
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter) rs201415996
NM_000466.3(PEX1):c.453G>A (p.Thr151=) rs368714078
NM_000466.3(PEX1):c.464T>C (p.Ile155Thr) rs1562867275
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000466.3(PEX1):c.475G>T (p.Ala159Ser) rs372455445
NM_000466.3(PEX1):c.484C>T (p.Pro162Ser) rs2116247732
NM_000466.3(PEX1):c.525C>A (p.Leu175=) rs886043502
NM_000466.3(PEX1):c.535C>T (p.Pro179Ser) rs760387811
NM_000466.3(PEX1):c.547C>G (p.Arg183Gly) rs149806989
NM_000466.3(PEX1):c.630G>C (p.Met210Ile) rs1562866915
NM_000466.3(PEX1):c.657_660del (p.Ser220fs) rs786205656
NM_000466.3(PEX1):c.753C>T (p.Ser251=) rs1554375514
NM_000466.3(PEX1):c.829C>T (p.Gln277Ter)
NM_000466.3(PEX1):c.91C>T (p.Leu31=) rs1585269118

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.