ClinVar Miner

List of variants in gene PRKN reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 163
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HGVS dbSNP gnomAD frequency
NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu) rs149953814 0.00223
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.930G>C (p.Glu310Asp) rs72480423 0.00018
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
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.727G>A (p.Asp243Asn) rs146173584 0.00009
NM_004562.3(PRKN):c.1112C>T (p.Ala371Val) rs375036403 0.00006
NM_004562.3(PRKN):c.1364G>A (p.Arg455His) rs748955949 0.00004
NM_004562.3(PRKN):c.272C>T (p.Ala91Val) rs528661586 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.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.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.172-9C>G rs758769558 0.00002
NM_004562.3(PRKN):c.775A>G (p.Ile259Val) rs750325162 0.00002
NM_004562.3(PRKN):c.1117C>A (p.His373Asn) rs1240306663 0.00001
NM_004562.3(PRKN):c.117C>G (p.Asp39Glu) rs756595206 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.1330G>C (p.Glu444Gln) rs772592654 0.00001
NM_004562.3(PRKN):c.1366G>A (p.Val456Ile) rs755627153 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.310C>T (p.Arg104Trp) rs769099303 0.00001
NM_004562.3(PRKN):c.311G>A (p.Arg104Gln) rs748892763 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.700C>T (p.Arg234Trp) rs373822092 0.00001
NM_004562.3(PRKN):c.755A>T (p.Gln252Leu) rs1790398298 0.00001
NM_004562.3(PRKN):c.765C>T (p.Ser255=) rs778612938 0.00001
NM_004562.3(PRKN):c.904C>T (p.His302Tyr) rs755749488 0.00001
GRCh37/hg19 6q26(chr6:161815583-161860424)x1
GRCh37/hg19 6q26(chr6:161904718-162038722)x1
GRCh37/hg19 6q26(chr6:161963572-162131676)x1
GRCh37/hg19 6q26(chr6:162064527-162456523)x1
GRCh37/hg19 6q26(chr6:162192855-162287747)x1
GRCh37/hg19 6q26(chr6:162203626-162305145)x1
GRCh37/hg19 6q26(chr6:162212864-162530432)x1
GRCh37/hg19 6q26(chr6:162238814-162439952)x1
GRCh37/hg19 6q26(chr6:162250682-162555068)x3
GRCh37/hg19 6q26(chr6:162283948-162735264)x1
GRCh37/hg19 6q26(chr6:162317097-162969924)x1
GRCh37/hg19 6q26(chr6:162335175-162612003)x1
GRCh37/hg19 6q26(chr6:162341941-162408937)x1
GRCh37/hg19 6q26(chr6:162358262-162702832)x3
GRCh37/hg19 6q26(chr6:162369855-162680559)x1
GRCh37/hg19 6q26(chr6:162422086-162651797)x1
GRCh37/hg19 6q26(chr6:162422242-162643440)x3
GRCh37/hg19 6q26(chr6:162434342-162551099)x1
GRCh37/hg19 6q26(chr6:162442895-162966685)x1
GRCh37/hg19 6q26(chr6:162442896-162716261)x1
GRCh37/hg19 6q26(chr6:162462926-162821421)x3
GRCh37/hg19 6q26(chr6:162496034-162770009)x3
GRCh37/hg19 6q26(chr6:162511253-162793290)x1
GRCh37/hg19 6q26(chr6:162513435-162799405)x1
GRCh37/hg19 6q26(chr6:162520918-162729381)x1
GRCh37/hg19 6q26(chr6:162529119-162681967)x1
GRCh37/hg19 6q26(chr6:162542083-162802027)x1
GRCh37/hg19 6q26(chr6:162545871-163112949)x3
GRCh37/hg19 6q26(chr6:162559497-162618048)x1
GRCh37/hg19 6q26(chr6:162573253-162693547)x1
GRCh37/hg19 6q26(chr6:162587891-162838225)x3
GRCh37/hg19 6q26(chr6:162605984-162664335)x1
GRCh37/hg19 6q26(chr6:162615960-162895692)x1
GRCh37/hg19 6q26(chr6:162638367-162727465)x3
GRCh37/hg19 6q26(chr6:162658972-162754606)x3
GRCh37/hg19 6q26(chr6:162660989-162871297)x1
GRCh37/hg19 6q26(chr6:162666841-162833215)x1
GRCh37/hg19 6q26(chr6:162672820-163007394)x1
GRCh37/hg19 6q26(chr6:162672821-162958851)x1
GRCh37/hg19 6q26(chr6:162672841-162917677)x3
GRCh37/hg19 6q26(chr6:162672841-162928416)x1
GRCh37/hg19 6q26(chr6:162672841-163008515)x1
GRCh37/hg19 6q26(chr6:162673130-163007394)x1
GRCh37/hg19 6q26(chr6:162686408-162912388)x1
GRCh37/hg19 6q26(chr6:162690884-162904764)x3
GRCh37/hg19 6q26(chr6:162702831-163001286)x4
GRCh37/hg19 6q26(chr6:162708066-162947278)x3
GRCh37/hg19 6q26(chr6:162716260-162917677)x3
GRCh37/hg19 6q26(chr6:162716501-162912831)x3
GRCh37/hg19 6q26(chr6:162716501-162917677)x3
GRCh37/hg19 6q26(chr6:162716501-162918976)x3
GRCh37/hg19 6q26(chr6:162716501-162919714)x3
GRCh37/hg19 6q26(chr6:162722580-162895752)x1
GRCh37/hg19 6q26(chr6:162745744-163117879)x1
GRCh37/hg19 6q26(chr6:162771917-162875706)x1
GRCh37/hg19 6q26(chr6:162788575-162995604)x3
GRCh37/hg19 6q26(chr6:162802027-162990128)x1
GRCh37/hg19 6q26(chr6:162813663-162928416)x1
GRCh37/hg19 6q26(chr6:162838224-163036171)x1
GRCh37/hg19 6q26(chr6:162841880-162982289)x1
GRCh37/hg19 6q26(chr6:162854370-162940238)x1
GRCh37/hg19 6q26(chr6:162864093-162889514)x1
NC_000006.11:g.(?_161771125)_(162475212_?)dup
NC_000006.11:g.(?_161771131)_(161807929_?)dup
NC_000006.11:g.(?_161771131)_(162864525_?)dup
NC_000006.11:g.(?_162683537)_(162864525_?)dup
NC_000006.12:g.(?_161386784)_(161973427_?)dup
NC_000006.12:g.(?_161548844)_(161549013_?)dup
NC_000006.12:g.(?_162262515)_(162443487_?)dup
NM_004562.3(PRKN):c.1019G>A (p.Gly340Glu) rs1318163167
NM_004562.3(PRKN):c.1028C>T (p.Pro343Leu)
NM_004562.3(PRKN):c.1052C>T (p.Thr351Ile)
NM_004562.3(PRKN):c.1057G>A (p.Glu353Lys)
NM_004562.3(PRKN):c.1060G>A (p.Gly354Arg) rs2115426337
NM_004562.3(PRKN):c.1129T>C (p.Cys377Arg)
NM_004562.3(PRKN):c.1166A>G (p.Gln389Arg)
NM_004562.3(PRKN):c.1168G>T (p.Ala390Ser) rs777708182
NM_004562.3(PRKN):c.1205G>A (p.Arg402His) rs766915327
NM_004562.3(PRKN):c.1216G>A (p.Ala406Thr)
NM_004562.3(PRKN):c.1286G>A (p.Gly429Glu)
NM_004562.3(PRKN):c.1309C>G (p.Pro437Ala)
NM_004562.3(PRKN):c.1338C>G (p.Cys446Trp)
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.208G>A (p.Val70Met) rs899299169
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.394CCA[3] (p.Pro133dup) rs747624684
NM_004562.3(PRKN):c.409C>G (p.Pro137Ala) rs1779933576
NM_004562.3(PRKN):c.412+6T>C rs1779933448
NM_004562.3(PRKN):c.536G>A (p.Gly179Asp) rs370479735
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.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>A (p.Ala230Glu) rs571490973
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.736A>C (p.Ser246Arg)
NM_004562.3(PRKN):c.771C>G (p.His257Gln) rs748797721
NM_004562.3(PRKN):c.802T>A (p.Cys268Ser) rs1315134059
NM_004562.3(PRKN):c.80A>C (p.Lys27Thr)
NM_004562.3(PRKN):c.818A>G (p.Asn273Ser)
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.937A>C (p.Asn313His) rs1583215669
NM_004562.3(PRKN):c.937A>G (p.Asn313Asp) rs1583215669
NM_004562.3(PRKN):c.985G>T (p.Gly329Cys)
NM_004562.3(PRKN):c.988G>T (p.Val330Leu) rs749768565
Single allele

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