ClinVar Miner

List of variants in gene PDE10A studied for Infantile-onset generalized dyskinesia with orofacial involvement

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001385079.1(PDE10A):c.1890-19T>C rs220749 0.70008
NM_001385079.1(PDE10A):c.1118A>G (p.Tyr373Cys) rs778899140
NM_001385079.1(PDE10A):c.1144G>C (p.Ala382Pro) rs875989839
NM_001385079.1(PDE10A):c.1450C>T (p.Arg484Trp) rs1332740547
NM_001385079.1(PDE10A):c.1692G>A (p.Ala564=) rs220740
NM_001385079.1(PDE10A):c.1799T>G (p.Phe600Cys) rs1554258695
NM_001385079.1(PDE10A):c.1838C>G (p.Thr613Arg)
NM_001385079.1(PDE10A):c.2113C>T (p.Arg705Trp)
NM_001385079.1(PDE10A):c.2133_2142del (p.Ser712fs)
NM_001385079.1(PDE10A):c.2795T>G (p.Ile932Ser)
NM_001385079.1(PDE10A):c.3128C>A (p.Ser1043Tyr) rs1781435066

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