ClinVar Miner

List of variants studied for juvenile-onset Parkinson disease by Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology

Included ClinVar conditions (7):

Juvenile onset Parkinson disease 19A
Juvenile-onset Parkinson disease
Kufor-Rakeb syndrome
Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78
Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78; Parkinsonism due to ATP13A2 deficiency
Motor neuron disease; Juvenile-onset Parkinson disease
Parkinson disease 19B, early-onset

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

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_022089.4(ATP13A2):c.1208C>A (p.Ala403Glu)	rs373349384

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