List of variants reported as pathogenic for basal ganglia disorder by Undiagnosed Diseases Network, NIH

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs)	rs765632065	0.00007
NM_001257180.2(SLC20A2):c.136C>T (p.Gln46Ter)	rs751093906
NM_001257180.2(SLC20A2):c.1375G>T (p.Glu459Ter)	rs1563452941
NM_001257180.2(SLC20A2):c.1723G>T (p.Glu575Ter)	rs387906653
NM_001257180.2(SLC20A2):c.935-2A>G	rs1586025869
NM_022089.4(ATP13A2):c.1749+442_2251+512del

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