ClinVar Miner

List of variants in gene ATP13A2 reported as pathogenic for Parkinson disease

Included ClinVar conditions (32):
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Gene type:
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Total variants: 14
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HGVS dbSNP
ATP13A2, 1-BP DEL, 3057C
ATP13A2, 22-BP DUP
NC_000001.10:g.(?_17318209)_(17319096_?)del
NM_022089.4(ATP13A2):c.1099_1100GA[3] (p.Thr368fs) rs762033589
NM_022089.4(ATP13A2):c.1306+5G>A rs786205056
NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg) rs121918227
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter) rs773246271
NM_022089.4(ATP13A2):c.2552_2553del (p.Phe851fs) rs587776890
NM_022089.4(ATP13A2):c.2561T>G (p.Met854Arg) rs587777053
NM_022089.4(ATP13A2):c.2629G>A (p.Gly877Arg) rs144701072
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065
NM_022089.4(ATP13A2):c.3153_3154CT[2] (p.Leu1053fs)
NM_022089.4(ATP13A2):c.348-9_351del rs749798211
NM_022089.4(ATP13A2):c.490C>T (p.Arg164Trp) rs199624796

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