List of variants reported as likely pathogenic for autosomal recessive juvenile Parkinson disease 2

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_004562.3(PRKN):c.719C>T (p.Thr240Met)	rs137853054	0.00016
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp)	rs191486604	0.00013
NM_004562.3(PRKN):c.2T>C (p.Met1Thr)	rs771586218	0.00008
NM_004562.3(PRKN):c.1321T>C (p.Cys441Arg)	rs778305273	0.00005
NM_004562.3(PRKN):c.167T>A (p.Val56Glu)	rs137853059	0.00002
NM_004562.3(PRKN):c.633A>T (p.Lys211Asn)	rs137853060	0.00002
NC_000006.11:g.(?_162683537)_(162683817_?)dup
NM_001018111.3(PODXL):c.89_90insGTCGCCCC (p.Gln32fs)	rs1554391082
NM_004562.3(PRKN):c.1283del (p.Asn428fs)
NM_004562.3(PRKN):c.1283dup (p.Asn428fs)
NM_004562.3(PRKN):c.1301T>C (p.Met434Thr)	rs1582953433
NM_004562.3(PRKN):c.171+1G>A
NM_004562.3(PRKN):c.220_221dup (p.Trp74fs)	rs746646126
NM_004562.3(PRKN):c.73C>T (p.Gln25Ter)	rs1440010564
NM_004562.3(PRKN):c.954_957dup (p.Ala320fs)	rs1779896481
NM_004562.3(PRKN):c.992del (p.Leu331fs)	rs1583215504
Single allele

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