ClinVar Miner

List of variants in gene PRKN reported as pathogenic for brain disorder

Included ClinVar conditions (1840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
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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.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.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
GRCh37/hg19 6q26(chr6:161969922-161990424)
GRCh37/hg19 6q26(chr6:162137107-162137163)
GRCh37/hg19 6q26(chr6:162394320-162475157)
GRCh37/hg19 6q26(chr6:162622150-162622256)
GRCh37/hg19 6q26(chr6:162622150-162683772)
GRCh37/hg19 6q26(chr6:162864400-162864441)
NC_000006.11:g.(?_162206784)_(162206960_?)dup
NC_000006.11:g.(?_162394314)_(162475226_?)dup
NC_000006.11:g.(?_162474785)_(162475494_?)del
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.(?_162262505)_(162262785_?)del
NC_000006.12:g.(?_162262505)_(162443493_?)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.1083+1del rs2115426221
NM_004562.3(PRKN):c.1292G>T (p.Cys431Phe) rs397514694
NM_004562.3(PRKN):c.1358G>A (p.Trp453Ter) rs137853056
NM_004562.3(PRKN):c.155del (p.Asn52fs) rs754809877
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu) rs55774500
NM_004562.3(PRKN):c.618+7842_618+7934inv
NM_004562.3(PRKN):c.719C>G (p.Thr240Arg) rs137853054
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

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