ClinVar Miner

List of variants in gene PRKN reported as benign

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Gene type:
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Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_004562.3(PRKN):c.934-196A>T rs509495 0.85881
NM_004562.3(PRKN):c.872-68C>G rs3765475 0.67020
NM_004562.3(PRKN):c.872-230G>A rs3765476 0.58773
NM_004562.3(PRKN):c.871+90882A>T rs969759 0.56947
NM_004562.3(PRKN):c.872-35G>A rs3765474 0.54760
NM_004562.3(PRKN):c.8-3854C>G rs12193297 0.45732
NM_004562.3(PRKN):c.172-79G>A rs7744798 0.41970
NM_004562.3(PRKN):c.*2480C>A rs68121389 0.37695
NM_004562.3(PRKN):c.171+25T>C rs2075923 0.28900
NM_004562.3(PRKN):c.871+69657G>A rs77332950 0.21089
NM_004562.3(PRKN):c.618+230T>C rs9456734 0.18752
NM_004562.3(PRKN):c.535-77C>T rs41268561 0.12680
NM_004562.3(PRKN):c.*2021G>A rs1122470 0.12415
NM_004562.3(PRKN):c.*652C>T rs71653629 0.11674
NM_004562.3(PRKN):c.*1296A>G rs3734464 0.08312
NM_004562.3(PRKN):c.172-19T>A rs771310483 0.07440
NM_004562.3(PRKN):c.735-58C>T rs9458372 0.07096
NM_004562.3(PRKN):c.412+317G>C rs77531763 0.06107
NM_004562.3(PRKN):c.1286-169A>G rs80033990 0.04279
NM_004562.3(PRKN):c.*2492A>G rs117341007 0.04051
NM_004562.3(PRKN):c.*320C>A rs71653628 0.03819
NM_004562.3(PRKN):c.171+248C>T rs112942853 0.03364
NM_004562.3(PRKN):c.111G>A (p.Pro37=) rs77795533 0.03342
NM_004562.3(PRKN):c.172-211T>G rs80315562 0.03028
NM_004562.3(PRKN):c.1167+174G>T rs61498215 0.02992
NM_004562.3(PRKN):c.1083+125A>G rs115564174 0.02792
NM_004562.3(PRKN):c.1180G>A (p.Asp394Asn) rs1801334 0.02570
NM_004562.3(PRKN):c.*94A>G rs62637702 0.02462
NM_004562.3(PRKN):c.*820A>T rs74701717 0.02439
NM_004562.3(PRKN):c.574A>C (p.Met192Leu) rs9456735 0.01850
NM_004562.3(PRKN):c.1083+173A>C rs79128468 0.01765
NM_004562.3(PRKN):c.1168-165C>T rs2314127 0.01735
NM_004562.3(PRKN):c.172-17dup rs776880599 0.01724
NM_004562.3(PRKN):c.1084-202A>G rs73606906 0.01511
NM_004562.3(PRKN):c.783A>G (p.Leu261=) rs9456711 0.01329
NM_004562.3(PRKN):c.957T>C (p.Gly319=) rs144340740 0.01025
NM_004562.3(PRKN):c.136G>A (p.Ala46Thr) rs75860381 0.00621
NM_004562.3(PRKN):c.714C>T (p.Cys238=) rs114974496 0.00357
NM_004562.3(PRKN):c.101A>G (p.Gln34Arg) rs148851677 0.00303
NM_004562.3(PRKN):c.48G>A (p.Glu16=) rs143477190 0.00270
NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu) rs149953814 0.00223
NM_004562.3(PRKN):c.1204C>T (p.Arg402Cys) rs55830907 0.00191
NM_004562.3(PRKN):c.535-9T>A rs201039350 0.00038
NM_004562.3(PRKN):c.1096C>T (p.Arg366Trp) rs56092260 0.00012
NM_004562.3(PRKN):c.1083+18C>T rs777171316 0.00006
NM_004562.3(PRKN):c.1000C>T (p.Arg334Cys) rs199657839 0.00004
NM_004562.3(PRKN):c.1017G>A (p.Ala339=) rs546676036 0.00003
NM_004562.3(PRKN):c.816C>T (p.Leu272=) rs143902760 0.00002
GRCh37/hg19 6q26(chr6:161810908-161813159)x1
GRCh37/hg19 6q26(chr6:161815583-161855785)x1
GRCh37/hg19 6q26(chr6:161815583-161859655)x1
GRCh37/hg19 6q26(chr6:161816660-161849789)x1
GRCh37/hg19 6q26(chr6:161816660-161859655)x1
GRCh37/hg19 6q26(chr6:162182126-162288538)x1
GRCh37/hg19 6q26(chr6:162201050-162260159)
GRCh37/hg19 6q26(chr6:162236075-162336354)x3
GRCh37/hg19 6q26(chr6:162472025-162504377)x1
GRCh37/hg19 6q26(chr6:162489533-162534642)x1
GRCh37/hg19 6q26(chr6:162496914-162507690)x1
GRCh37/hg19 6q26(chr6:162514945-162748288)x1
GRCh37/hg19 6q26(chr6:162565718-162592807)x1
GRCh37/hg19 6q26(chr6:162565718-162621262)x1
GRCh37/hg19 6q26(chr6:162578611-162580207)x1
GRCh37/hg19 6q26(chr6:162584161-162587892)x1
GRCh37/hg19 6q26(chr6:162597463-162627290)x1
GRCh37/hg19 6q26(chr6:162609552-162674093)x1
GRCh37/hg19 6q26(chr6:162626625-162782074)x1
GRCh37/hg19 6q26(chr6:162632171-163044269)x3
GRCh37/hg19 6q26(chr6:162633118-163017170)x3
GRCh37/hg19 6q26(chr6:162639214-162738804)x1
GRCh37/hg19 6q26(chr6:162683876-163078039)x3
GRCh37/hg19 6q26(chr6:162685340-163000261)x1
GRCh37/hg19 6q26(chr6:162713427-162914986)x3
GRCh37/hg19 6q26(chr6:162719416-162914986)x3
GRCh37/hg19 6q26(chr6:162724247-162917942)x3
GRCh37/hg19 6q26(chr6:162729381-162838024)x3
GRCh37/hg19 6q26(chr6:162741184-162927803)x3
GRCh37/hg19 6q26(chr6:162750426-162980498)x1
GRCh37/hg19 6q26(chr6:162767682-162839745)x3
GRCh37/hg19 6q26(chr6:162779151-163036511)x1
GRCh37/hg19 6q26(chr6:162780995-162899631)x3
GRCh37/hg19 6q26(chr6:162799322-163000261)x1
GRCh37/hg19 6q26(chr6:162832167-162997423)x3
GRCh37/hg19 6q26(chr6:162847889-162982051)x1
GRCh37/hg19 6q26(chr6:162902283-163000261)x1
GRCh37/hg19 6q26(chr6:162912514-162962262)x1
GRCh37/hg19 6q26(chr6:162914986-162987588)x1
GRCh37/hg19 6q26(chr6:162914986-162989826)x1
GRCh37/hg19 6q26(chr6:162936958-162980498)x1
GRCh37/hg19 6q26(chr6:162976142-162996562)x1
GRCh37/hg19 6q26(chr6:162980498-163098794)x1
GRCh37/hg19 6q26(chr6:163000261-163089344)x1
GRCh38/hg38 6q26(chr6:162233059-162327256)x1
GRCh38/hg38 6q26(chr6:162449337-162512065)x1
GRCh38/hg38 6q26(chr6:162539079-162629312)x1
NM_004562.3(PRKN):c.1138G>A (p.Val380Ile)
NM_004562.3(PRKN):c.1138G>C (p.Val380Leu) rs1801582
NM_004562.3(PRKN):c.1138G>T (p.Val380Leu) rs1801582
NM_004562.3(PRKN):c.1167+162C>G rs9347504
NM_004562.3(PRKN):c.1286-118A>G rs74497568
NM_004562.3(PRKN):c.171+20del rs529531705
NM_004562.3(PRKN):c.172-18T>A rs778021436
NM_004562.3(PRKN):c.172-18del
NM_004562.3(PRKN):c.172-28_172-18del rs751742289
NM_004562.3(PRKN):c.172-38dup rs751742289
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu) rs55774500
NM_004562.3(PRKN):c.535-228T>G rs9365364
NM_004562.3(PRKN):c.734+8945T>G
NM_004562.3(PRKN):c.871+69700_871+69704del rs112078090
NM_004562.3(PRKN):c.872-181G>A rs35744731
NM_004562.3(PRKN):c.933+48C>T rs10945756
NM_004562.3(PRKN):c.934-137CA[8] rs59889520
NM_004562.3(PRKN):c.934-137CA[9] rs59889520
NM_004562.3(PRKN):c.934-20_934-16del rs545744886

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