ClinVar Miner

List of variants in gene PRKN reported as likely benign

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Total variants: 129
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HGVS dbSNP gnomAD frequency
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.934-142C>T rs117828575 0.02130
NM_004562.3(PRKN):c.172-17dup rs776880599 0.01724
NM_004562.3(PRKN):c.*1695G>A rs77283740 0.01596
NM_004562.3(PRKN):c.934-206G>T rs114928122 0.01432
NM_004562.3(PRKN):c.783A>G (p.Leu261=) rs9456711 0.01329
NM_004562.3(PRKN):c.933+43A>G rs77112335 0.01269
NM_004562.3(PRKN):c.933+67G>T rs115979402 0.01194
NM_004562.3(PRKN):c.*1252C>T rs77926621 0.01179
NM_004562.3(PRKN):c.1286-237C>T rs78691111 0.01156
NM_004562.3(PRKN):c.933+101T>C rs113114509 0.01133
NM_004562.3(PRKN):c.933+83G>A rs75008325 0.01065
NM_004562.3(PRKN):c.934-195C>T rs111675670 0.01039
NM_004562.3(PRKN):c.934-158G>A rs148786996 0.01026
NM_004562.3(PRKN):c.957T>C (p.Gly319=) rs144340740 0.01025
NM_004562.3(PRKN):c.1083+124C>T rs182993010 0.01020
NM_004562.3(PRKN):c.*1462C>A rs11961229 0.00787
NM_004562.3(PRKN):c.*1407C>T rs11961237 0.00780
NM_004562.3(PRKN):c.933+237G>A rs142648157 0.00774
NM_004562.3(PRKN):c.872-58A>G rs143283042 0.00770
NM_004562.3(PRKN):c.933+93C>T rs139796936 0.00770
NM_004562.3(PRKN):c.872-60G>C rs150733619 0.00745
NM_004562.3(PRKN):c.*2187C>T rs116309008 0.00713
NM_004562.3(PRKN):c.*2354C>T rs191130749 0.00685
NM_004562.3(PRKN):c.*2217G>A rs138660139 0.00678
NM_004562.3(PRKN):c.*1909G>A rs148426411 0.00674
NM_004562.3(PRKN):c.171+62G>A rs113698817 0.00654
NM_004562.3(PRKN):c.136G>A (p.Ala46Thr) rs75860381 0.00621
NM_004562.3(PRKN):c.872-96G>A rs73782939 0.00581
NM_004562.3(PRKN):c.735-333A>C rs147645912 0.00572
NM_004562.3(PRKN):c.619-100T>C rs139315438 0.00543
NM_004562.3(PRKN):c.735-99_735-97del rs533492948 0.00536
NM_004562.3(PRKN):c.735-96_735-95insG rs541050753 0.00535
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.734+131C>A rs533661719 0.00280
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.*15C>A rs35125035 0.00163
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.1000C>T (p.Arg334Cys) rs199657839 0.00004
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.814C>A (p.Leu272Ile) rs141366047 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.720G>A (p.Thr240=) rs769882260 0.00002
NM_004562.3(PRKN):c.816C>T (p.Leu272=) rs143902760 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
GRCh37/hg19 6q26(chr6:161836241-162000352)x1
GRCh37/hg19 6q26(chr6:162125751-162347138)x1
GRCh37/hg19 6q26(chr6:162178475-162289828)x1
GRCh37/hg19 6q26(chr6:162412136-162546042)x1
GRCh37/hg19 6q26(chr6:162584753-162713427)x1
GRCh37/hg19 6q26(chr6:162724247-162914986)x3
GRCh38/hg38 6q26(chr6:162232971-162629368)x3
NM_004562.3(PRKN):c.*96GC[7] rs544293869
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.1317C>A (p.Pro439=)
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.171+220GA[4] rs199898133
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.245C>A (p.Ala82Glu) rs55774500
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.534+30930_534+30933del rs553344388
NM_004562.3(PRKN):c.591A>G (p.Gln197=)
NM_004562.3(PRKN):c.7+32919T>C
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.871+69692G>T
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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