ClinVar Miner

List of variants studied for atypical juvenile parkinsonism by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (4):

Early-onset Parkinson disease 20
Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53
Juvenile onset Parkinson disease 19A
Parkinson disease 19B, early-onset

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_203446.3(SYNJ1):c.1906G>A (p.Val636Ile)	rs373820739	0.00007
NM_203446.3(SYNJ1):c.3601C>T (p.Arg1201Cys)	rs114994257	0.00001

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