ClinVar Miner

List of variants in gene PRKN reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 259
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HGVS dbSNP gnomAD frequency
NM_004562.3(PRKN):c.871+90882A>T rs969759 0.56947
NM_004562.3(PRKN):c.8-3854C>G rs12193297 0.45732
NM_004562.3(PRKN):c.172-19T>A rs771310483 0.07440
NM_004562.3(PRKN):c.111G>A (p.Pro37=) rs77795533 0.03342
NM_004562.3(PRKN):c.1180G>A (p.Asp394Asn) rs1801334 0.02570
NM_004562.3(PRKN):c.*94A>G rs62637702 0.02462
NM_004562.3(PRKN):c.574A>C (p.Met192Leu) rs9456735 0.01850
NM_004562.3(PRKN):c.172-17dup rs776880599 0.01724
NM_004562.3(PRKN):c.783A>G (p.Leu261=) rs9456711 0.01329
NM_004562.3(PRKN):c.957T>C (p.Gly319=) rs144340740 0.01025
NM_004562.3(PRKN):c.136G>A (p.Ala46Thr) rs75860381 0.00621
NM_004562.3(PRKN):c.714C>T (p.Cys238=) rs114974496 0.00357
NM_004562.3(PRKN):c.101A>G (p.Gln34Arg) rs148851677 0.00303
NM_004562.3(PRKN):c.48G>A (p.Glu16=) rs143477190 0.00270
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu) rs149953814 0.00223
NM_004562.3(PRKN):c.1204C>T (p.Arg402Cys) rs55830907 0.00191
NM_004562.3(PRKN):c.919C>T (p.Leu307=) rs138920699 0.00076
NM_004562.3(PRKN):c.52G>A (p.Asp18Asn) rs146288080 0.00074
NM_004562.3(PRKN):c.1076G>A (p.Gly359Asp) rs201300874 0.00059
NM_004562.3(PRKN):c.799T>C (p.Tyr267His) rs114696251 0.00055
NM_004562.3(PRKN):c.766C>T (p.Arg256Cys) rs150562946 0.00046
NM_004562.3(PRKN):c.535-9T>A rs201039350 0.00038
NM_004562.3(PRKN):c.101_102del (p.Gln34fs) rs55777503 0.00027
NM_004562.3(PRKN):c.110C>T (p.Pro37Leu) rs148990138 0.00024
NM_004562.3(PRKN):c.930G>C (p.Glu310Asp) rs72480423 0.00018
NM_004562.3(PRKN):c.337_376del (p.Pro113fs) rs771529549 0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_004562.3(PRKN):c.837C>T (p.His279=) rs149433924 0.00014
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp) rs191486604 0.00013
NM_004562.3(PRKN):c.1096C>T (p.Arg366Trp) rs56092260 0.00012
NM_004562.3(PRKN):c.1137C>T (p.Ala379=) rs761813150 0.00011
NM_004562.3(PRKN):c.1372A>C (p.Met458Leu) rs182893847 0.00011
NM_004562.3(PRKN):c.247A>G (p.Thr83Ala) rs141825163 0.00010
NM_004562.3(PRKN):c.701G>A (p.Arg234Gln) rs144032774 0.00010
NM_004562.3(PRKN):c.171+17G>A rs370823431 0.00009
NM_004562.3(PRKN):c.727G>A (p.Asp243Asn) rs146173584 0.00009
NM_004562.3(PRKN):c.735-14C>G rs200157467 0.00009
NM_004562.3(PRKN):c.1083+18C>T rs777171316 0.00006
NM_004562.3(PRKN):c.167T>A (p.Val56Glu) rs137853059 0.00006
NM_004562.3(PRKN):c.51C>T (p.Val17=) rs148302761 0.00006
NM_004562.3(PRKN):c.744C>G (p.Val248=) rs771437898 0.00006
NM_004562.3(PRKN):c.8-17C>A rs552574625 0.00006
NM_004562.3(PRKN):c.98G>A (p.Arg33Gln) rs147757966 0.00006
NM_004562.3(PRKN):c.1321T>C (p.Cys441Arg) rs778305273 0.00005
NM_004562.3(PRKN):c.228A>G (p.Lys76=) rs370161857 0.00005
NM_004562.3(PRKN):c.270C>T (p.Asn90=) rs767425151 0.00005
NM_004562.3(PRKN):c.1000C>T (p.Arg334Cys) rs199657839 0.00004
NM_004562.3(PRKN):c.1186A>G (p.Arg396Gly) rs539917500 0.00004
NM_004562.3(PRKN):c.1364G>A (p.Arg455His) rs748955949 0.00004
NM_004562.3(PRKN):c.171+16C>T rs746375717 0.00004
NM_004562.3(PRKN):c.219G>A (p.Pro73=) rs139083077 0.00004
NM_004562.3(PRKN):c.272C>T (p.Ala91Val) rs528661586 0.00004
NM_004562.3(PRKN):c.276G>A (p.Ala92=) rs200256562 0.00004
NM_004562.3(PRKN):c.348T>C (p.Ser116=) rs781149641 0.00004
NM_004562.3(PRKN):c.353G>C (p.Gly118Ala) rs144001694 0.00004
NM_004562.3(PRKN):c.730G>A (p.Val244Ile) rs771259513 0.00004
NM_004562.3(PRKN):c.735-8C>T rs765248676 0.00004
NM_004562.3(PRKN):c.741C>T (p.Pro247=) rs149749354 0.00004
NM_004562.3(PRKN):c.761A>G (p.Asn254Ser) rs139600787 0.00004
NM_004562.3(PRKN):c.814C>A (p.Leu272Ile) rs141366047 0.00004
NM_004562.3(PRKN):c.838G>A (p.Asp280Asn) rs72480422 0.00004
NM_004562.3(PRKN):c.859C>G (p.Leu287Val) rs762130249 0.00004
NM_004562.3(PRKN):c.988G>A (p.Val330Met) rs749768565 0.00004
NM_004562.3(PRKN):c.1001G>A (p.Arg334His) rs746215864 0.00003
NM_004562.3(PRKN):c.1017G>A (p.Ala339=) rs546676036 0.00003
NM_004562.3(PRKN):c.1097G>A (p.Arg366Gln) rs761213043 0.00003
NM_004562.3(PRKN):c.1192G>A (p.Ala398Thr) rs571092914 0.00003
NM_004562.3(PRKN):c.614G>A (p.Ser205Asn) rs200985148 0.00003
NM_004562.3(PRKN):c.8-14A>G rs769722629 0.00003
NM_004562.3(PRKN):c.848T>C (p.Leu283Pro) rs56154308 0.00003
NM_004562.3(PRKN):c.1113G>A (p.Ala371=) rs761535398 0.00002
NM_004562.3(PRKN):c.153G>A (p.Arg51=) rs1309785126 0.00002
NM_004562.3(PRKN):c.172-9C>G rs758769558 0.00002
NM_004562.3(PRKN):c.255C>T (p.Gly85=) rs769477007 0.00002
NM_004562.3(PRKN):c.633A>T (p.Lys211Asn) rs137853060 0.00002
NM_004562.3(PRKN):c.758G>A (p.Cys253Tyr) rs747427602 0.00002
NM_004562.3(PRKN):c.775A>G (p.Ile259Val) rs750325162 0.00002
NM_004562.3(PRKN):c.816C>T (p.Leu272=) rs143902760 0.00002
NM_004562.3(PRKN):c.1029G>A (p.Pro343=) rs753655327 0.00001
NM_004562.3(PRKN):c.1117C>A (p.His373Asn) rs1240306663 0.00001
NM_004562.3(PRKN):c.1119T>C (p.His373=) rs1786276135 0.00001
NM_004562.3(PRKN):c.1158A>G (p.Thr386=) rs756949723 0.00001
NM_004562.3(PRKN):c.1167+9T>A rs771353933 0.00001
NM_004562.3(PRKN):c.117C>G (p.Asp39Glu) rs756595206 0.00001
NM_004562.3(PRKN):c.124C>T (p.Arg42Cys) rs577232474 0.00001
NM_004562.3(PRKN):c.1259G>A (p.Arg420His) rs531247345 0.00001
NM_004562.3(PRKN):c.1286-4A>G rs202021008 0.00001
NM_004562.3(PRKN):c.1288G>A (p.Gly430Ser) rs1226997153 0.00001
NM_004562.3(PRKN):c.1290C>T (p.Gly430=) rs1267567025 0.00001
NM_004562.3(PRKN):c.1330G>C (p.Glu444Gln) rs772592654 0.00001
NM_004562.3(PRKN):c.1366G>A (p.Val456Ile) rs755627153 0.00001
NM_004562.3(PRKN):c.1392C>T (p.Asp464=) rs1371115187 0.00001
NM_004562.3(PRKN):c.194G>A (p.Ser65Asn) rs754604402 0.00001
NM_004562.3(PRKN):c.205A>G (p.Ile69Val) rs766391627 0.00001
NM_004562.3(PRKN):c.273G>A (p.Ala91=) rs781619606 0.00001
NM_004562.3(PRKN):c.310C>T (p.Arg104Trp) rs769099303 0.00001
NM_004562.3(PRKN):c.412+15C>G rs1008170274 0.00001
NM_004562.3(PRKN):c.535-5C>T rs1777765086 0.00001
NM_004562.3(PRKN):c.549G>T (p.Trp183Cys) rs1582962161 0.00001
NM_004562.3(PRKN):c.551A>T (p.Asp184Val) rs142383136 0.00001
NM_004562.3(PRKN):c.618+7A>T rs1582961958 0.00001
NM_004562.3(PRKN):c.635G>A (p.Cys212Tyr) rs137853058 0.00001
NM_004562.3(PRKN):c.663A>G (p.Glu221=) rs551801791 0.00001
NM_004562.3(PRKN):c.700C>T (p.Arg234Trp) rs373822092 0.00001
NM_004562.3(PRKN):c.735-9T>C rs1218915916 0.00001
NM_004562.3(PRKN):c.742G>A (p.Val248Ile) rs777074432 0.00001
NM_004562.3(PRKN):c.755A>T (p.Gln252Leu) rs1790398298 0.00001
NM_004562.3(PRKN):c.850G>C (p.Gly284Arg) rs751037529 0.00001
NM_004562.3(PRKN):c.872-1G>C rs772074730 0.00001
NM_004562.3(PRKN):c.904C>T (p.His302Tyr) rs755749488 0.00001
NM_004562.3(PRKN):c.97C>T (p.Arg33Ter) rs770591350 0.00001
NC_000006.11:g.(?_161771125)_(162475212_?)dup
NC_000006.11:g.(?_161771131)_(161807929_?)del
NC_000006.11:g.(?_161771131)_(161807929_?)dup
NC_000006.11:g.(?_161771131)_(162864525_?)dup
NC_000006.11:g.(?_161969866)_(161970055_?)dup
NC_000006.11:g.(?_161969866)_(161990468_?)del
NC_000006.11:g.(?_161969866)_(161990468_?)dup
NC_000006.11:g.(?_162206784)_(162206960_?)dup
NC_000006.11:g.(?_162206794)_(162206950_?)del
NC_000006.11:g.(?_162206794)_(162206950_?)dup
NC_000006.11:g.(?_162394314)_(162394469_?)del
NC_000006.11:g.(?_162394314)_(162475226_?)dup
NC_000006.11:g.(?_162394314)_(162683817_?)del
NC_000006.11:g.(?_162394314)_(162683817_?)dup
NC_000006.11:g.(?_162394314)_(162864525_?)del
NC_000006.11:g.(?_162394324)_(162475216_?)dup
NC_000006.11:g.(?_162475113)_(162864519_?)del
NC_000006.11:g.(?_162622143)_(162622304_?)dup
NC_000006.11:g.(?_162622143)_(162864525_?)del
NC_000006.11:g.(?_162622143)_(162864525_?)dup
NC_000006.11:g.(?_162622178)_(162623926_?)del
NC_000006.11:g.(?_162683537)_(162683817_?)dup
NC_000006.11:g.(?_162683537)_(162864525_?)dup
NC_000006.11:g.(?_162683547)_(162683807_?)dup
NC_000006.11:g.(?_162864322)_(162864525_?)dup
NC_000006.11:g.(?_162864322)_(162868359_?)del
NC_000006.11:g.(?_162864332)_(162864519_?)del
NC_000006.11:g.(?_162864332)_(162864519_?)dup
NC_000006.12:g.(?_161386784)_(161973427_?)dup
NC_000006.12:g.(?_161548844)_(161549013_?)dup
NC_000006.12:g.(?_161548844)_(161569426_?)del
NC_000006.12:g.(?_161569335)_(161569436_?)del
NC_000006.12:g.(?_161785752)_(161973437_?)del
NC_000006.12:g.(?_161785762)_(162054184_?)dup
NC_000006.12:g.(?_161973292)_(161973427_?)del
NC_000006.12:g.(?_161973292)_(161973427_?)dup
NC_000006.12:g.(?_161973292)_(162201262_?)dup
NC_000006.12:g.(?_162054091)_(162054174_?)del
NC_000006.12:g.(?_162201121)_(162201262_?)del
NC_000006.12:g.(?_162201121)_(162443487_?)del
NC_000006.12:g.(?_162262505)_(162262785_?)del
NC_000006.12:g.(?_162262505)_(162443493_?)del
NC_000006.12:g.(?_162262515)_(162262775_?)del
NC_000006.12:g.(?_162262515)_(162443487_?)del
NC_000006.12:g.(?_162262515)_(162443487_?)dup
NC_000006.12:g.(?_162262525)_(162275409_?)dup
NM_004562.2(PRKN):c.8-?_171+?del
NM_004562.3(PRKN):c.1019G>A (p.Gly340Glu) rs1318163167
NM_004562.3(PRKN):c.1028C>T (p.Pro343Leu)
NM_004562.3(PRKN):c.1041G>A (p.Gln347=) rs766121894
NM_004562.3(PRKN):c.1046_1047del (p.Lys349fs)
NM_004562.3(PRKN):c.1057G>A (p.Glu353Lys)
NM_004562.3(PRKN):c.1060G>A (p.Gly354Arg) rs2115426337
NM_004562.3(PRKN):c.1071C>G (p.Gly357=) rs878854707
NM_004562.3(PRKN):c.1083+11C>T
NM_004562.3(PRKN):c.1083+1del rs2115426221
NM_004562.3(PRKN):c.1129T>C (p.Cys377Arg)
NM_004562.3(PRKN):c.1138G>A (p.Val380Ile)
NM_004562.3(PRKN):c.1138G>C (p.Val380Leu) rs1801582
NM_004562.3(PRKN):c.1138G>T (p.Val380Leu) rs1801582
NM_004562.3(PRKN):c.1166A>G (p.Gln389Arg)
NM_004562.3(PRKN):c.1167+8A>G rs1583004948
NM_004562.3(PRKN):c.1168G>T (p.Ala390Ser) rs777708182
NM_004562.3(PRKN):c.1170C>A (p.Ala390=)
NM_004562.3(PRKN):c.1191C>T (p.Ala397=)
NM_004562.3(PRKN):c.1194C>T (p.Ala398=)
NM_004562.3(PRKN):c.1205G>A (p.Arg402His) rs766915327
NM_004562.3(PRKN):c.1216G>A (p.Ala406Thr)
NM_004562.3(PRKN):c.1251C>T (p.Pro417=)
NM_004562.3(PRKN):c.1252T>C (p.Cys418Arg) rs1554252200
NM_004562.3(PRKN):c.125G>A (p.Arg42His) rs368134308
NM_004562.3(PRKN):c.125G>C (p.Arg42Pro) rs368134308
NM_004562.3(PRKN):c.1269A>G (p.Val423=)
NM_004562.3(PRKN):c.1286-3C>G
NM_004562.3(PRKN):c.1286G>A (p.Gly429Glu)
NM_004562.3(PRKN):c.1309C>G (p.Pro437Ala)
NM_004562.3(PRKN):c.1329C>T (p.Leu443=)
NM_004562.3(PRKN):c.1334G>A (p.Trp445Ter) rs961239925
NM_004562.3(PRKN):c.1338C>G (p.Cys446Trp)
NM_004562.3(PRKN):c.1352del (p.Cys451fs)
NM_004562.3(PRKN):c.1359G>A (p.Trp453Ter)
NM_004562.3(PRKN):c.135C>T (p.Phe45=)
NM_004562.3(PRKN):c.136G>T (p.Ala46Ser) rs75860381
NM_004562.3(PRKN):c.141G>T (p.Gly47=)
NM_004562.3(PRKN):c.147G>C (p.Glu49Asp) rs199762783
NM_004562.3(PRKN):c.155del (p.Asn52fs) rs754809877
NM_004562.3(PRKN):c.171+15G>A rs997074952
NM_004562.3(PRKN):c.171+20del rs529531705
NM_004562.3(PRKN):c.172-18T>A rs778021436
NM_004562.3(PRKN):c.172-18del
NM_004562.3(PRKN):c.172-28_172-18del rs751742289
NM_004562.3(PRKN):c.172-30_172-18del rs751742289
NM_004562.3(PRKN):c.174T>C (p.Asn58=) rs536687809
NM_004562.3(PRKN):c.220_221dup (p.Trp74fs) rs746646126
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu) rs55774500
NM_004562.3(PRKN):c.279A>G (p.Gly93=)
NM_004562.3(PRKN):c.279A>T (p.Gly93=)
NM_004562.3(PRKN):c.290G>A (p.Arg97Gln)
NM_004562.3(PRKN):c.300G>C (p.Gln100His) rs1256316516
NM_004562.3(PRKN):c.308C>G (p.Thr103Ser) rs2128100081
NM_004562.3(PRKN):c.317A>G (p.Asp106Gly) rs1288568218
NM_004562.3(PRKN):c.336C>A (p.Leu112=) rs2128100054
NM_004562.3(PRKN):c.355C>T (p.Leu119=) rs376992611
NM_004562.3(PRKN):c.394CCA[3] (p.Pro133dup) rs747624684
NM_004562.3(PRKN):c.412+6T>C rs1779933448
NM_004562.3(PRKN):c.536G>A (p.Gly179Asp) rs370479735
NM_004562.3(PRKN):c.560T>G (p.Leu187Ter) rs1562485799
NM_004562.3(PRKN):c.562A>G (p.Ile188Val)
NM_004562.3(PRKN):c.571C>T (p.Arg191Trp)
NM_004562.3(PRKN):c.572G>A (p.Arg191Gln)
NM_004562.3(PRKN):c.591A>G (p.Gln197=)
NM_004562.3(PRKN):c.601_602insA (p.Cys201Ter)
NM_004562.3(PRKN):c.632A>T (p.Lys211Ile) rs1583425462
NM_004562.3(PRKN):c.636T>G (p.Cys212Trp) rs1780901583
NM_004562.3(PRKN):c.644A>C (p.His215Pro) rs1780900959
NM_004562.3(PRKN):c.666A>G (p.Thr222=) rs1780899722
NM_004562.3(PRKN):c.674C>G (p.Ala225Gly) rs1356263061
NM_004562.3(PRKN):c.686T>C (p.Ile229Thr) rs1562430302
NM_004562.3(PRKN):c.689C>T (p.Ala230Val) rs571490973
NM_004562.3(PRKN):c.68T>A (p.Ile23Asn) rs199859147
NM_004562.3(PRKN):c.734+13_734+15del
NM_004562.3(PRKN):c.734+1G>A rs1562430103
NM_004562.3(PRKN):c.734+9C>T
NM_004562.3(PRKN):c.741C>A (p.Pro247=) rs149749354
NM_004562.3(PRKN):c.771C>G (p.His257Gln) rs748797721
NM_004562.3(PRKN):c.795C>T (p.His265=) rs942973988
NM_004562.3(PRKN):c.8-14A>C
NM_004562.3(PRKN):c.802T>A (p.Cys268Ser) rs1315134059
NM_004562.3(PRKN):c.804T>A (p.Cys268Ter) rs377554392
NM_004562.3(PRKN):c.80A>C (p.Lys27Thr)
NM_004562.3(PRKN):c.818A>G (p.Asn273Ser)
NM_004562.3(PRKN):c.823C>A (p.Arg275=)
NM_004562.3(PRKN):c.844C>T (p.Gln282Ter)
NM_004562.3(PRKN):c.85G>A (p.Val29Met)
NM_004562.3(PRKN):c.887C>T (p.Ser296Phe)
NM_004562.3(PRKN):c.907C>T (p.His303Tyr)
NM_004562.3(PRKN):c.933+19G>A
NM_004562.3(PRKN):c.933+20G>A
NM_004562.3(PRKN):c.934-20_934-16del rs545744886
NM_004562.3(PRKN):c.937A>C (p.Asn313His) rs1583215669
NM_004562.3(PRKN):c.937A>G (p.Asn313Asp) rs1583215669
NM_004562.3(PRKN):c.942G>A (p.Arg314=)
NM_004562.3(PRKN):c.942G>T (p.Arg314=)
NM_004562.3(PRKN):c.971del (p.Val324fs) rs1562519380
NM_004562.3(PRKN):c.985G>T (p.Gly329Cys)
NM_004562.3(PRKN):c.988G>T (p.Val330Leu) rs749768565
NM_004562.3(PRKN):c.993A>G (p.Leu331=)

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