ClinVar Miner

List of variants studied for atypical juvenile parkinsonism by Fulgent Genetics, Fulgent Genetics

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001256864.2(DNAJC6):c.1456C>T (p.Leu486Phe)	rs78141380	0.01170
NM_203446.3(SYNJ1):c.6G>A (p.Ala2=)	rs61750221	0.00452
NM_203446.3(SYNJ1):c.3697+12T>G	rs763338383	0.00006

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