ClinVar Miner

List of variants in gene PRKN reported as likely benign by Invitae

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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu) rs149953814 0.00223
NM_004562.3(PRKN):c.919C>T (p.Leu307=) rs138920699 0.00076
NM_004562.3(PRKN):c.52G>A (p.Asp18Asn) rs146288080 0.00074
NM_004562.3(PRKN):c.1076G>A (p.Gly359Asp) rs201300874 0.00059
NM_004562.3(PRKN):c.110C>T (p.Pro37Leu) rs148990138 0.00024
NM_004562.3(PRKN):c.837C>T (p.His279=) rs149433924 0.00014
NM_004562.3(PRKN):c.1096C>T (p.Arg366Trp) rs56092260 0.00012
NM_004562.3(PRKN):c.1137C>T (p.Ala379=) rs761813150 0.00011
NM_004562.3(PRKN):c.1372A>C (p.Met458Leu) rs182893847 0.00011
NM_004562.3(PRKN):c.171+17G>A rs370823431 0.00009
NM_004562.3(PRKN):c.735-14C>G rs200157467 0.00009
NM_004562.3(PRKN):c.51C>T (p.Val17=) rs148302761 0.00006
NM_004562.3(PRKN):c.744C>G (p.Val248=) rs771437898 0.00006
NM_004562.3(PRKN):c.8-17C>A rs552574625 0.00006
NM_004562.3(PRKN):c.228A>G (p.Lys76=) rs370161857 0.00005
NM_004562.3(PRKN):c.270C>T (p.Asn90=) rs767425151 0.00005
NM_004562.3(PRKN):c.1186A>G (p.Arg396Gly) rs539917500 0.00004
NM_004562.3(PRKN):c.171+16C>T rs746375717 0.00004
NM_004562.3(PRKN):c.219G>A (p.Pro73=) rs139083077 0.00004
NM_004562.3(PRKN):c.276G>A (p.Ala92=) rs200256562 0.00004
NM_004562.3(PRKN):c.348T>C (p.Ser116=) rs781149641 0.00004
NM_004562.3(PRKN):c.735-8C>T rs765248676 0.00004
NM_004562.3(PRKN):c.741C>T (p.Pro247=) rs149749354 0.00004
NM_004562.3(PRKN):c.1113G>A (p.Ala371=) rs761535398 0.00002
NM_004562.3(PRKN):c.153G>A (p.Arg51=) rs1309785126 0.00002
NM_004562.3(PRKN):c.255C>T (p.Gly85=) rs769477007 0.00002
NM_004562.3(PRKN):c.1029G>A (p.Pro343=) rs753655327 0.00001
NM_004562.3(PRKN):c.1119T>C (p.His373=) rs1786276135 0.00001
NM_004562.3(PRKN):c.1158A>G (p.Thr386=) rs756949723 0.00001
NM_004562.3(PRKN):c.1167+9T>A rs771353933 0.00001
NM_004562.3(PRKN):c.124C>T (p.Arg42Cys) rs577232474 0.00001
NM_004562.3(PRKN):c.1290C>T (p.Gly430=) rs1267567025 0.00001
NM_004562.3(PRKN):c.1392C>T (p.Asp464=) rs1371115187 0.00001
NM_004562.3(PRKN):c.273G>A (p.Ala91=) rs781619606 0.00001
NM_004562.3(PRKN):c.412+15C>G rs1008170274 0.00001
NM_004562.3(PRKN):c.535-5C>T rs1777765086 0.00001
NM_004562.3(PRKN):c.618+7A>T rs1582961958 0.00001
NM_004562.3(PRKN):c.663A>G (p.Glu221=) rs551801791 0.00001
NM_004562.3(PRKN):c.735-9T>C rs1218915916 0.00001
NM_004562.3(PRKN):c.742G>A (p.Val248Ile) rs777074432 0.00001
NM_004562.3(PRKN):c.1041G>A (p.Gln347=) rs766121894
NM_004562.3(PRKN):c.1071C>G (p.Gly357=) rs878854707
NM_004562.3(PRKN):c.1083+11C>T
NM_004562.3(PRKN):c.1167+8A>G rs1583004948
NM_004562.3(PRKN):c.1170C>A (p.Ala390=)
NM_004562.3(PRKN):c.1191C>T (p.Ala397=)
NM_004562.3(PRKN):c.1194C>T (p.Ala398=)
NM_004562.3(PRKN):c.1251C>T (p.Pro417=)
NM_004562.3(PRKN):c.125G>A (p.Arg42His) rs368134308
NM_004562.3(PRKN):c.1269A>G (p.Val423=)
NM_004562.3(PRKN):c.1329C>T (p.Leu443=)
NM_004562.3(PRKN):c.135C>T (p.Phe45=)
NM_004562.3(PRKN):c.171+15G>A rs997074952
NM_004562.3(PRKN):c.172-18T>A rs778021436
NM_004562.3(PRKN):c.172-30_172-18del rs751742289
NM_004562.3(PRKN):c.174T>C (p.Asn58=) rs536687809
NM_004562.3(PRKN):c.279A>G (p.Gly93=)
NM_004562.3(PRKN):c.279A>T (p.Gly93=)
NM_004562.3(PRKN):c.336C>A (p.Leu112=) rs2128100054
NM_004562.3(PRKN):c.355C>T (p.Leu119=) rs376992611
NM_004562.3(PRKN):c.591A>G (p.Gln197=)
NM_004562.3(PRKN):c.734+13_734+15del
NM_004562.3(PRKN):c.734+9C>T
NM_004562.3(PRKN):c.741C>A (p.Pro247=) rs149749354
NM_004562.3(PRKN):c.795C>T (p.His265=) rs942973988
NM_004562.3(PRKN):c.8-14A>C
NM_004562.3(PRKN):c.823C>A (p.Arg275=)
NM_004562.3(PRKN):c.933+19G>A
NM_004562.3(PRKN):c.933+20G>A
NM_004562.3(PRKN):c.942G>A (p.Arg314=)
NM_004562.3(PRKN):c.942G>T (p.Arg314=)
NM_004562.3(PRKN):c.993A>G (p.Leu331=)

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