ClinVar Miner

List of variants studied for autosomal recessive juvenile Parkinson disease 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_004562.3(PRKN):c.*2480C>A rs68121389 0.37695
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.500G>A (p.Ser167Asn) rs1801474 0.05277
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.111G>A (p.Pro37=) rs77795533 0.03342
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.*1695G>A rs77283740 0.01596
NM_004562.3(PRKN):c.*2518A>G rs16892479 0.01555
NM_004562.3(PRKN):c.783A>G (p.Leu261=) rs9456711 0.01329
NM_004562.3(PRKN):c.*1694C>T rs16892481 0.01212
NM_004562.3(PRKN):c.*1252C>T rs77926621 0.01179
NM_004562.3(PRKN):c.957T>C (p.Gly319=) rs144340740 0.01025
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.*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.-30T>C rs200065081 0.00671
NM_004562.3(PRKN):c.136G>A (p.Ala46Thr) rs75860381 0.00621
NM_004562.3(PRKN):c.*2475A>C rs868117815 0.00611
NM_004562.3(PRKN):c.458C>G (p.Pro153Arg) rs55654276 0.00452
NM_004562.3(PRKN):c.*2194G>A rs149239597 0.00310
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.*1386A>G rs140107485 0.00235
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_004562.3(PRKN):c.*1997G>A rs75529362 0.00224
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.*2486C>A rs867195540 0.00164
NM_004562.3(PRKN):c.*15C>A rs35125035 0.00163
NM_004562.3(PRKN):c.522C>T (p.Leu174=) rs147121590 0.00115
NM_004562.3(PRKN):c.*106G>A rs573670651 0.00101
NM_004562.3(PRKN):c.*1685A>G rs187134044 0.00098
NM_004562.3(PRKN):c.919C>T (p.Leu307=) rs138920699 0.00076
NM_004562.3(PRKN):c.766C>T (p.Arg256Cys) rs150562946 0.00046
NM_004562.3(PRKN):c.-42T>C rs112850281 0.00042
NM_004562.3(PRKN):c.535-9T>A rs201039350 0.00038
NM_004562.3(PRKN):c.*1550A>G rs567890129 0.00031
NM_004562.3(PRKN):c.*2474A>C rs886061228 0.00031
NM_004562.3(PRKN):c.110C>T (p.Pro37Leu) rs148990138 0.00024
NM_004562.3(PRKN):c.*2451G>A rs371405899 0.00023
NM_004562.3(PRKN):c.*1470G>A rs886061231 0.00019
NM_004562.3(PRKN):c.930G>C (p.Glu310Asp) rs72480423 0.00018
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_004562.3(PRKN):c.*1601G>A rs779851186 0.00015
NM_004562.3(PRKN):c.*60C>A rs553007666 0.00013
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp) rs191486604 0.00013
NM_004562.3(PRKN):c.*1243C>A rs961026516 0.00012
NM_004562.3(PRKN):c.1096C>T (p.Arg366Trp) rs56092260 0.00012
NM_004562.3(PRKN):c.-46C>T rs369389244 0.00011
NM_004562.3(PRKN):c.*121A>C rs557142572 0.00010
NM_004562.3(PRKN):c.247A>G (p.Thr83Ala) rs141825163 0.00010
NM_004562.3(PRKN):c.531C>A (p.Thr177=) rs140590552 0.00010
NM_004562.3(PRKN):c.735-14C>G rs200157467 0.00009
NM_004562.3(PRKN):c.*2488A>G rs924577572 0.00006
NM_004562.3(PRKN):c.*314C>A rs886061236 0.00005
NM_004562.3(PRKN):c.*2214C>T rs967885779 0.00004
NM_004562.3(PRKN):c.-85G>A rs556535340 0.00004
NM_004562.3(PRKN):c.1000C>T (p.Arg334Cys) rs199657839 0.00004
NM_004562.3(PRKN):c.1364G>A (p.Arg455His) rs748955949 0.00004
NM_004562.3(PRKN):c.761A>G (p.Asn254Ser) rs139600787 0.00004
NM_004562.3(PRKN):c.814C>A (p.Leu272Ile) rs141366047 0.00004
NM_004562.3(PRKN):c.838G>A (p.Asp280Asn) rs72480422 0.00004
NM_004562.3(PRKN):c.*1158T>C rs1459030812 0.00003
NM_004562.3(PRKN):c.*2443A>G rs886061229 0.00003
NM_004562.3(PRKN):c.614G>A (p.Ser205Asn) rs200985148 0.00003
NM_004562.3(PRKN):c.*1016C>T rs886061234 0.00002
NM_004562.3(PRKN):c.*2192G>A rs1273156810 0.00002
NM_004562.3(PRKN):c.*98G>A rs771094906 0.00002
NM_004562.3(PRKN):c.255C>T (p.Gly85=) rs769477007 0.00002
NM_004562.3(PRKN):c.*1383T>C rs1289507934 0.00001
NM_004562.3(PRKN):c.*1576C>T rs1401264418 0.00001
NM_004562.3(PRKN):c.*2232G>A rs541135564 0.00001
NM_004562.3(PRKN):c.*2259T>C rs1163661606 0.00001
NM_004562.3(PRKN):c.*623T>C rs530999210 0.00001
NM_004562.3(PRKN):c.*722G>A rs1784435392 0.00001
NM_004562.3(PRKN):c.-57G>C rs750626864 0.00001
NM_004562.3(PRKN):c.1366G>A (p.Val456Ile) rs755627153 0.00001
NM_004562.3(PRKN):c.706A>G (p.Ile236Val) rs886061238 0.00001
NM_004562.3(PRKN):c.987C>T (p.Gly329=) rs768652293 0.00001
NM_004562.3(PRKN):c.*1102C>G rs924908743
NM_004562.3(PRKN):c.*1156C>G rs886061232
NM_004562.3(PRKN):c.*1281C>T rs571904443
NM_004562.3(PRKN):c.*140A>G rs1182122095
NM_004562.3(PRKN):c.*1500C>T rs1784415095
NM_004562.3(PRKN):c.*2022T>C rs886061230
NM_004562.3(PRKN):c.*301G>C rs576586040
NM_004562.3(PRKN):c.*372C>G rs764753874
NM_004562.3(PRKN):c.*433C>G rs1784443204
NM_004562.3(PRKN):c.*472T>C rs886061235
NM_004562.3(PRKN):c.-78C>A rs765761156
NM_004562.3(PRKN):c.1041G>A (p.Gln347=) rs766121894
NM_004562.3(PRKN):c.1056C>T (p.Cys352=) rs780996466
NM_004562.3(PRKN):c.1138G>C (p.Val380Leu) rs1801582
NM_004562.3(PRKN):c.1193C>T (p.Ala398Val) rs1784919731
NM_004562.3(PRKN):c.1205G>A (p.Arg402His) rs766915327
NM_004562.3(PRKN):c.1213G>A (p.Ala405Thr) rs886061237
NM_004562.3(PRKN):c.125G>A (p.Arg42His) rs368134308
NM_004562.3(PRKN):c.155del (p.Asn52fs) rs754809877
NM_004562.3(PRKN):c.174T>C (p.Asn58=) rs536687809
NM_004562.3(PRKN):c.594C>T (p.Ser198=) rs1777760361
NM_004562.3(PRKN):c.600C>T (p.His200=) rs72480421
NM_004562.3(PRKN):c.7+4C>T rs749081702
NM_004562.3(PRKN):c.892A>T (p.Ile298Phe) rs1273010274

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