ClinVar Miner

List of variants in gene PRKN studied for Parkinson disease

Included ClinVar conditions (32):
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Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP
NC_000006.11:g.(?_161969866)_(161970055_?)dup
NC_000006.11:g.(?_161990367)_(161990468_?)del
NC_000006.11:g.(?_162206784)_(162206960_?)dup
NC_000006.11:g.(?_162206784)_(162394469_?)del
NC_000006.11:g.(?_162394314)_(162475226_?)dup
NC_000006.11:g.(?_162475123)_(162475206_?)del
NC_000006.11:g.(?_162622143)_(162622304_?)del
NC_000006.11:g.(?_162622143)_(162683817_?)del
NC_000006.11:g.(?_162622163)_(162622284_?)dup
NC_000006.11:g.(?_162622163)_(162864505_?)del
NC_000006.11:g.(?_162683537)_(162683817_?)dup
NC_000006.11:g.(?_162683537)_(162864525_?)dup
NC_000006.11:g.(?_162683547)_(162683807_?)del
NC_000006.11:g.(?_162864322)_(162864525_?)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.1001G>A (p.Arg334His) rs746215864
NM_004562.3(PRKN):c.1019G>A (p.Gly340Glu)
NM_004562.3(PRKN):c.101A>G (p.Gln34Arg) rs148851677
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.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.1204C>T (p.Arg402Cys) rs55830907
NM_004562.3(PRKN):c.125G>A (p.Arg42His) rs368134308
NM_004562.3(PRKN):c.125G>C (p.Arg42Pro)
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.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.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.245C>A (p.Ala82Glu) rs55774500
NM_004562.3(PRKN):c.300G>C (p.Gln100His)
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.500G>A (p.Ser167Asn) rs1801474
NM_004562.3(PRKN):c.517A>G (p.Thr173Ala)
NM_004562.3(PRKN):c.522C>T (p.Leu174=) rs147121590
NM_004562.3(PRKN):c.560T>G (p.Leu187Ter) rs1562485799
NM_004562.3(PRKN):c.574A>C (p.Met192Leu) rs9456735
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.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.761A>G (p.Asn254Ser) rs139600787
NM_004562.3(PRKN):c.783A>G (p.Leu261=) rs9456711
NM_004562.3(PRKN):c.799T>C (p.Tyr267His)
NM_004562.3(PRKN):c.8-14A>G rs769722629
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)
NM_004562.3(PRKN):c.850G>C (p.Gly284Arg) rs751037529
NM_004562.3(PRKN):c.919C>T (p.Leu307=) rs138920699
NM_004562.3(PRKN):c.930G>C (p.Glu310Asp)
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.988G>A (p.Val330Met)
NM_004562.3(PRKN):c.98G>A (p.Arg33Gln)
PARK2, 1-BP DEL, 1072T
PARK2, 1-BP DEL, 202A
PARK2, 1-BP DEL, 255A
PARK2, EX5-6DEL
Single allele

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