ClinVar Miner

List of variants in gene PRKN reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 88
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
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.337_376del (p.Pro113fs) rs771529549 0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp) rs191486604 0.00013
NM_004562.3(PRKN):c.167T>A (p.Val56Glu) rs137853059 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.633A>T (p.Lys211Asn) rs137853060 0.00002
NM_004562.3(PRKN):c.758G>A (p.Cys253Tyr) rs747427602 0.00002
NM_004562.3(PRKN):c.635G>A (p.Cys212Tyr) rs137853058 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.97C>T (p.Arg33Ter) rs770591350 0.00001
GRCh37/hg19 6q26(chr6:161969922-161990424)
GRCh37/hg19 6q26(chr6:162137107-162137163)
GRCh37/hg19 6q26(chr6:162394320-162475157)
GRCh37/hg19 6q26(chr6:162394334-162622284)x1
GRCh37/hg19 6q26(chr6:162614287-162660066)x1
GRCh37/hg19 6q26(chr6:162622150-162622256)
GRCh37/hg19 6q26(chr6:162622150-162683772)
GRCh37/hg19 6q26(chr6:162622163-162864505)x1
GRCh37/hg19 6q26(chr6:162638345-162754162)x0
GRCh37/hg19 6q26(chr6:162683557-162683797)x0
GRCh37/hg19 6q26(chr6:162864342-162864505)x1
GRCh37/hg19 6q26(chr6:162864400-162864441)
NC_000006.11:g.(?_161771131)_(161807929_?)del
NC_000006.11:g.(?_161969866)_(161990468_?)del
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)_(162864525_?)del
NC_000006.11:g.(?_162394324)_(162475216_?)dup
NC_000006.11:g.(?_162474785)_(162475494_?)del
NC_000006.11:g.(?_162475113)_(162864519_?)del
NC_000006.11:g.(?_162622143)_(162864525_?)del
NC_000006.11:g.(?_162622143)_(162864525_?)dup
NC_000006.11:g.(?_162683537)_(162683817_?)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.(?_161548844)_(161569426_?)del
NC_000006.12:g.(?_161569335)_(161569436_?)del
NC_000006.12:g.(?_161785752)_(161973437_?)del
NC_000006.12:g.(?_161973292)_(161973427_?)del
NC_000006.12:g.(?_161973292)_(161973427_?)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.(?_162262525)_(162275409_?)dup
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.101del (p.Gln34fs) rs748142049
NM_004562.3(PRKN):c.1046_1047del (p.Lys349fs)
NM_004562.3(PRKN):c.1083+1del rs2115426221
NM_004562.3(PRKN):c.125G>C (p.Arg42Pro) rs368134308
NM_004562.3(PRKN):c.1286-3C>G
NM_004562.3(PRKN):c.1292G>T (p.Cys431Phe) rs397514694
NM_004562.3(PRKN):c.1334G>A (p.Trp445Ter) rs961239925
NM_004562.3(PRKN):c.1352del (p.Cys451fs)
NM_004562.3(PRKN):c.1358G>A (p.Trp453Ter) rs137853056
NM_004562.3(PRKN):c.1359G>A (p.Trp453Ter)
NM_004562.3(PRKN):c.155del (p.Asn52fs) rs754809877
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.560T>G (p.Leu187Ter) rs1562485799
NM_004562.3(PRKN):c.601_602insA (p.Cys201Ter)
NM_004562.3(PRKN):c.618+7842_618+7934inv
NM_004562.3(PRKN):c.719C>G (p.Thr240Arg) rs137853054
NM_004562.3(PRKN):c.73C>T (p.Gln25Ter) rs1440010564
NM_004562.3(PRKN):c.743del (p.Val248fs) rs1790398941
NM_004562.3(PRKN):c.804T>A (p.Cys268Ter) rs377554392
NM_004562.3(PRKN):c.844C>T (p.Gln282Ter)
NM_004562.3(PRKN):c.931C>T (p.Gln311Ter) rs137853055
NM_004562.3(PRKN):c.971del (p.Val324fs) rs1562519380
NM_004562.3:c.536_735del
NM_013988.3:c.(?_171+24726)_(424+11283_?)del

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.