ClinVar Miner

List of variants reported as pathogenic for autosomal recessive juvenile Parkinson disease 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):

Autosomal recessive juvenile Parkinson disease 2
Autosomal recessive juvenile Parkinson disease 2; Ovarian neoplasm; Lung cancer
Leprosy, susceptibility to, 2; Lung carcinoma; Autosomal recessive juvenile Parkinson disease 2; Ovarian neoplasm

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)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)	rs34424986	0.00226
NM_004562.3(PRKN):c.719C>T (p.Thr240Met)	rs137853054	0.00016
NM_004562.3(PRKN):c.155del (p.Asn52fs)	rs754809877

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