ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 16

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser) rs200926225 0.00160
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967 0.00005
NM_001199107.2(TBC1D24):c.1426G>A (p.Ala476Thr) rs773304369 0.00004
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_001199107.2(TBC1D24):c.1525G>A (p.Gly509Arg) rs749994791 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001199107.2(TBC1D24):c.1282G>A (p.Gly428Arg) rs2065776554 0.00001
NM_001199107.2(TBC1D24):c.28G>A (p.Val10Met) rs767293945 0.00001
NM_001199107.2(TBC1D24):c.468C>A (p.Cys156Ter) rs397514714 0.00001
NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser) rs397514713 0.00001
NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val) rs748759187 0.00001
NM_001033044.4(GLUL):c.-13-1G>A rs2525592797
NM_001033044.4(GLUL):c.-13-2A>G rs2101936731
NM_001033044.4(GLUL):c.1A>C (p.Met1Leu) rs1131691970
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.1115C>A (p.Ser372Tyr) rs755802777
NM_001199107.2(TBC1D24):c.1142+272T>C rs2141874790
NM_001199107.2(TBC1D24):c.1143G>T (p.Arg381Ser)
NM_001199107.2(TBC1D24):c.1652G>A (p.Trp551Ter) rs2065788445
NM_001199107.2(TBC1D24):c.2T>C (p.Met1Thr) rs2505511536
NM_001199107.2(TBC1D24):c.442G>A (p.Glu148Lys) rs763626059
NM_001199107.2(TBC1D24):c.571T>C (p.Cys191Arg) rs2505514774
NM_001199107.2(TBC1D24):c.844C>T (p.Pro282Ser) rs865893281

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