ClinVar Miner

List of variants reported as benign for parkinsonism due to ATP13A2 deficiency by Genome-Nilou Lab

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_022089.4(ATP13A2):c.1195+66A>G rs9435736 0.80687
NM_022089.4(ATP13A2):c.1815C>T (p.Pro605=) rs2076603 0.55111
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=) rs761421 0.41522
NM_022089.4(ATP13A2):c.3236-30C>T rs2076605 0.41484
NM_022089.4(ATP13A2):c.3192C>T (p.Ala1064=) rs9435659 0.40884
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=) rs3170740 0.40860
NM_022089.4(ATP13A2):c.2637C>T (p.Gly879=) rs9435662 0.40757
NM_022089.4(ATP13A2):c.3084-3C>T rs7531163 0.23688

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