List of variants reported as uncertain significance for autosomal recessive juvenile Parkinson disease 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 93

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004562.3(PRKN):c.*2518A>G	rs16892479	0.01555
NM_004562.3(PRKN):c.*1694C>T	rs16892481	0.01212
NM_004562.3(PRKN):c.*2475A>C	rs868117815	0.00611
NM_004562.3(PRKN):c.*2194G>A	rs149239597	0.00310
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.*1997G>A	rs75529362	0.00224
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.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.799T>C (p.Tyr267His)	rs114696251	0.00055
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.*1601G>A	rs779851186	0.00015
NM_004562.3(PRKN):c.*60C>A	rs553007666	0.00013
NM_004562.3(PRKN):c.*1243C>A	rs961026516	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.727G>A (p.Asp243Asn)	rs146173584	0.00009
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.744C>G (p.Val248=)	rs771437898	0.00006
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.353G>C (p.Gly118Ala)	rs144001694	0.00004
NM_004562.3(PRKN):c.761A>G (p.Asn254Ser)	rs139600787	0.00004
NM_004562.3(PRKN):c.838G>A (p.Asp280Asn)	rs72480422	0.00004
NM_004562.3(PRKN):c.*1016C>T	rs886061234	0.00003
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.*314C>A	rs886061236	0.00003
NM_004562.3(PRKN):c.1001G>A (p.Arg334His)	rs746215864	0.00003
NM_004562.3(PRKN):c.614G>A (p.Ser205Asn)	rs200985148	0.00003
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.310C>T (p.Arg104Trp)	rs769099303	0.00001
NM_004562.3(PRKN):c.551A>T (p.Asp184Val)	rs142383136	0.00001
NM_004562.3(PRKN):c.706A>G (p.Ile236Val)	rs886061238	0.00001
NM_004562.3(PRKN):c.904C>T (p.His302Tyr)	rs755749488	0.00001
NM_004562.3(PRKN):c.987C>T (p.Gly329=)	rs768652293	0.00001
NC_000006.11:g.(?_161768590)_(162475206_?)dup
NC_000006.11:g.(?_161969866)_(161970055_?)dup
NC_000006.11:g.(?_162622143)_(163148721_?)dup
NC_000006.11:g.(?_162622163)_(162622284_?)dup
NC_000006.11:g.(?_162683537)_(162864525_?)dup
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.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.1302G>A (p.Met434Ile)	rs949479970
NM_004562.3(PRKN):c.174T>C (p.Asn58=)	rs536687809
NM_004562.3(PRKN):c.44T>C (p.Val15Ala)
NM_004562.3(PRKN):c.488G>A (p.Arg163Lys)
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
NM_004562.3(PRKN):c.915G>T (p.Arg305Ser)	rs2115480005

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.