ClinVar Miner

List of variants in gene PRKN studied for Parkinson disease

Included ClinVar conditions (34):
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Gene type:
ClinVar version:
Total variants: 162
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HGVS dbSNP
NC_000006.11:g.(?_161969866)_(161970055_?)dup
NC_000006.11:g.(?_162206784)_(162206960_?)dup
NC_000006.11:g.(?_162394314)_(162475226_?)dup
NC_000006.11:g.(?_162622163)_(162622284_?)dup
NC_000006.11:g.(?_162683537)_(162683817_?)dup
NC_000006.11:g.(?_162683537)_(162864525_?)dup
NC_000006.11:g.(?_162864322)_(162864525_?)dup
NC_000006.12:g.(?_161569335)_(161569436_?)del
NC_000006.12:g.(?_161785752)_(161973437_?)del
NC_000006.12:g.(?_162054091)_(162054174_?)del
NC_000006.12:g.(?_162201111)_(162201272_?)del
NC_000006.12:g.(?_162201111)_(162262785_?)del
NC_000006.12:g.(?_162201131)_(162443473_?)del
NC_000006.12:g.(?_162262505)_(162262785_?)del
NC_000006.12:g.(?_162262505)_(162443493_?)del
NC_000006.12:g.(?_162262525)_(162275409_?)dup
NM_004562.2(PRKN):c.172-?_871+?del
NM_004562.2(PRKN):c.413-?_534+?del
NM_004562.2(PRKN):c.735-?_871+?del
NM_004562.2(PRKN):c.8-?_171+?del
NM_004562.2(PRKN):c.872-?_1083+?del
NM_004562.3(PRKN):c.*1016C>T rs886061234
NM_004562.3(PRKN):c.*106G>A
NM_004562.3(PRKN):c.*1102C>G
NM_004562.3(PRKN):c.*1156C>G rs886061232
NM_004562.3(PRKN):c.*1158T>C
NM_004562.3(PRKN):c.*121A>C
NM_004562.3(PRKN):c.*1243C>A
NM_004562.3(PRKN):c.*1252C>T rs77926621
NM_004562.3(PRKN):c.*1281C>T rs571904443
NM_004562.3(PRKN):c.*1296A>G rs3734464
NM_004562.3(PRKN):c.*1383T>C
NM_004562.3(PRKN):c.*1386A>G rs140107485
NM_004562.3(PRKN):c.*1407C>T
NM_004562.3(PRKN):c.*140A>G
NM_004562.3(PRKN):c.*1462C>A rs11961229
NM_004562.3(PRKN):c.*1470G>A rs886061231
NM_004562.3(PRKN):c.*1500C>T
NM_004562.3(PRKN):c.*1550A>G
NM_004562.3(PRKN):c.*1576C>T
NM_004562.3(PRKN):c.*15C>A rs35125035
NM_004562.3(PRKN):c.*1601G>A rs779851186
NM_004562.3(PRKN):c.*1685A>G rs187134044
NM_004562.3(PRKN):c.*1694C>T rs16892481
NM_004562.3(PRKN):c.*1695G>A rs77283740
NM_004562.3(PRKN):c.*1909G>A
NM_004562.3(PRKN):c.*1997G>A
NM_004562.3(PRKN):c.*2021G>A rs1122470
NM_004562.3(PRKN):c.*2022T>C rs886061230
NM_004562.3(PRKN):c.*2187C>T
NM_004562.3(PRKN):c.*2192G>A
NM_004562.3(PRKN):c.*2194G>A rs149239597
NM_004562.3(PRKN):c.*2214C>T
NM_004562.3(PRKN):c.*2217G>A rs138660139
NM_004562.3(PRKN):c.*2232G>A
NM_004562.3(PRKN):c.*2259T>C
NM_004562.3(PRKN):c.*2354C>T rs191130749
NM_004562.3(PRKN):c.*2443A>G rs886061229
NM_004562.3(PRKN):c.*2451G>A
NM_004562.3(PRKN):c.*2474A>C rs886061228
NM_004562.3(PRKN):c.*2475A>C rs868117815
NM_004562.3(PRKN):c.*2480C>A rs68121389
NM_004562.3(PRKN):c.*2486C>A
NM_004562.3(PRKN):c.*2488A>G
NM_004562.3(PRKN):c.*2492A>G rs117341007
NM_004562.3(PRKN):c.*2518A>G
NM_004562.3(PRKN):c.*301G>C rs576586040
NM_004562.3(PRKN):c.*314C>A rs886061236
NM_004562.3(PRKN):c.*320C>A
NM_004562.3(PRKN):c.*372C>G rs764753874
NM_004562.3(PRKN):c.*433C>G
NM_004562.3(PRKN):c.*472T>C rs886061235
NM_004562.3(PRKN):c.*60C>A
NM_004562.3(PRKN):c.*623T>C
NM_004562.3(PRKN):c.*652C>T rs71653629
NM_004562.3(PRKN):c.*722G>A
NM_004562.3(PRKN):c.*820A>T rs74701717
NM_004562.3(PRKN):c.*94A>G
NM_004562.3(PRKN):c.*98G>A rs771094906
NM_004562.3(PRKN):c.1000C>T (p.Arg334Cys) rs199657839
NM_004562.3(PRKN):c.1001G>A (p.Arg334His) rs746215864
NM_004562.3(PRKN):c.1019G>A (p.Gly340Glu) rs1318163167
NM_004562.3(PRKN):c.101A>G (p.Gln34Arg) rs148851677
NM_004562.3(PRKN):c.101del (p.Gln34fs)
NM_004562.3(PRKN):c.1041G>A (p.Gln347=)
NM_004562.3(PRKN):c.1056C>T (p.Cys352=)
NM_004562.3(PRKN):c.1071C>G (p.Gly357=) rs878854707
NM_004562.3(PRKN):c.1096C>T (p.Arg366Trp) rs56092260
NM_004562.3(PRKN):c.110C>T (p.Pro37Leu)
NM_004562.3(PRKN):c.1117C>A (p.His373Asn) rs1240306663
NM_004562.3(PRKN):c.111G>A (p.Pro37=) rs77795533
NM_004562.3(PRKN):c.1138G>C (p.Val380Leu) rs1801582
NM_004562.3(PRKN):c.1180G>A (p.Asp394Asn) rs1801334
NM_004562.3(PRKN):c.1193C>T (p.Ala398Val)
NM_004562.3(PRKN):c.1204C>T (p.Arg402Cys) rs55830907
NM_004562.3(PRKN):c.1205G>A (p.Arg402His)
NM_004562.3(PRKN):c.1213G>A (p.Ala405Thr) rs886061237
NM_004562.3(PRKN):c.125G>A (p.Arg42His) rs368134308
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp) rs191486604
NM_004562.3(PRKN):c.1292G>T (p.Cys431Phe) rs397514694
NM_004562.3(PRKN):c.1301T>C (p.Met434Thr) rs1582953433
NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu) rs149953814
NM_004562.3(PRKN):c.1330G>C (p.Glu444Gln) rs772592654
NM_004562.3(PRKN):c.1358G>A (p.Trp453Ter) rs137853056
NM_004562.3(PRKN):c.1364G>A (p.Arg455His) rs748955949
NM_004562.3(PRKN):c.1366G>A (p.Val456Ile)
NM_004562.3(PRKN):c.136G>A (p.Ala46Thr) rs75860381
NM_004562.3(PRKN):c.155del (p.Asn52fs) rs754809877
NM_004562.3(PRKN):c.167T>A (p.Val56Glu) rs137853059
NM_004562.3(PRKN):c.172-9C>G rs758769558
NM_004562.3(PRKN):c.174T>C (p.Asn58=) rs536687809
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu) rs55774500
NM_004562.3(PRKN):c.247A>G (p.Thr83Ala)
NM_004562.3(PRKN):c.255C>T (p.Gly85=)
NM_004562.3(PRKN):c.300G>C (p.Gln100His) rs1256316516
NM_004562.3(PRKN):c.443T>A (p.Val148Glu) rs1060502319
NM_004562.3(PRKN):c.458C>G (p.Pro153Arg) rs55654276
NM_004562.3(PRKN):c.483A>T (p.Lys161Asn) rs137853057
NM_004562.3(PRKN):c.48G>A (p.Glu16=) rs143477190
NM_004562.3(PRKN):c.500G>A (p.Ser167Asn) rs1801474
NM_004562.3(PRKN):c.517A>G (p.Thr173Ala) rs749094429
NM_004562.3(PRKN):c.522C>T (p.Leu174=) rs147121590
NM_004562.3(PRKN):c.531C>A (p.Thr177=) rs140590552
NM_004562.3(PRKN):c.535-9T>A rs201039350
NM_004562.3(PRKN):c.574A>C (p.Met192Leu) rs9456735
NM_004562.3(PRKN):c.594C>T (p.Ser198=)
NM_004562.3(PRKN):c.600C>T (p.His200=)
NM_004562.3(PRKN):c.614G>A (p.Ser205Asn)
NM_004562.3(PRKN):c.633A>T (p.Lys211Asn) rs137853060
NM_004562.3(PRKN):c.635G>A (p.Cys212Tyr) rs137853058
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.706A>G (p.Ile236Val) rs886061238
NM_004562.3(PRKN):c.714C>T (p.Cys238=) rs114974496
NM_004562.3(PRKN):c.719C>G (p.Thr240Arg) rs137853054
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054
NM_004562.3(PRKN):c.730G>A (p.Val244Ile) rs771259513
NM_004562.3(PRKN):c.734+1G>A rs1562430103
NM_004562.3(PRKN):c.735-14C>G
NM_004562.3(PRKN):c.758G>A (p.Cys253Tyr) rs747427602
NM_004562.3(PRKN):c.761A>G (p.Asn254Ser) rs139600787
NM_004562.3(PRKN):c.766C>T (p.Arg256Cys) rs150562946
NM_004562.3(PRKN):c.783A>G (p.Leu261=) rs9456711
NM_004562.3(PRKN):c.799T>C (p.Tyr267His) rs114696251
NM_004562.3(PRKN):c.8-14A>G rs769722629
NM_004562.3(PRKN):c.814C>A (p.Leu272Ile)
NM_004562.3(PRKN):c.816C>T (p.Leu272=) rs143902760
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986
NM_004562.3(PRKN):c.838G>A (p.Asp280Asn) rs72480422
NM_004562.3(PRKN):c.892A>T (p.Ile298Phe)
NM_004562.3(PRKN):c.919C>T (p.Leu307=) rs138920699
NM_004562.3(PRKN):c.930G>C (p.Glu310Asp) rs72480423
NM_004562.3(PRKN):c.931C>T (p.Gln311Ter) rs137853055
NM_004562.3(PRKN):c.957T>C (p.Gly319=) rs144340740
NM_004562.3(PRKN):c.987C>T (p.Gly329=)
NM_004562.3(PRKN):c.988G>A (p.Val330Met) rs749768565
NM_004562.3(PRKN):c.98G>A (p.Arg33Gln) rs147757966
PARK2, 1-BP DEL, 1072T
PARK2, 1-BP DEL, 202A
PARK2, 1-BP DEL, 255A
PARK2, EX5-6DEL
Single allele

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