List of variants reported as pathogenic for progressive myoclonic epilepsy with dystonia

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001199107.2(TBC1D24):c.1008del (p.His336fs)	rs398122967	0.00005
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)	rs398122965	0.00003
NM_001199107.2(TBC1D24):c.1078C>T (p.Arg360Cys)	rs1057519629	0.00002
NM_001033044.4(GLUL):c.-13-1G>A
NM_001033044.4(GLUL):c.-13-2A>G	rs2101936731
NM_001033044.4(GLUL):c.1A>C (p.Met1Leu)
NM_001033044.4(GLUL):c.1A>G (p.Met1Val)	rs1131691970
NM_001033044.4(GLUL):c.1A>T (p.Met1Leu)	rs1131691970
NM_001199107.1(TBC1D24):c.969_970delGT	rs398122941
NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu)	rs765965968
NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val)	rs773916549
NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1])	rs761918906
NM_001199107.2(TBC1D24):c.442G>A (p.Glu148Lys)	rs763626059
NM_001199107.2(TBC1D24):c.468C>A (p.Cys156Ter)	rs397514714
NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs)	rs2141872119
NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser)	rs397514713

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