ClinVar Miner

List of variants in gene PRKN reported as pathogenic for not provided

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Gene type:
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Total variants: 64
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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(chr6:162394334-162622284)x1
GRCh37/hg19 6q26(chr6:162614287-162660066)x1
GRCh37/hg19 6q26(chr6:162622163-162864505)x1
GRCh37/hg19 6q26(chr6:162683557-162683797)x0
GRCh37/hg19 6q26(chr6:162864342-162864505)x1
NC_000006.11:g.(?_161771131)_(161807929_?)del
NC_000006.11:g.(?_161969866)_(161990468_?)del
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)_(162683817_?)del
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)_(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.(?_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
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.1334G>A (p.Trp445Ter) rs961239925
NM_004562.3(PRKN):c.1352del (p.Cys451fs)
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.560T>G (p.Leu187Ter) rs1562485799
NM_004562.3(PRKN):c.601_602insA (p.Cys201Ter)
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.971del (p.Val324fs) rs1562519380

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