ClinVar Miner

List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 25 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00008
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00003
NM_177550.5(SLC13A5):c.1022G>A (p.Trp341Ter) rs150203483 0.00001
NM_177550.5(SLC13A5):c.1280C>T (p.Ser427Leu) rs548065551 0.00001
NM_177550.5(SLC13A5):c.1514C>T (p.Pro505Leu) rs936922976 0.00001
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met) rs761917087 0.00001
NC_000017.10:g.(?_6328760)_(6616672_?)del
NC_000017.10:g.(?_6607177)_(6607395_?)del
NC_000017.10:g.(?_6607177)_(6610495_?)del
NC_000017.10:g.(?_6609941)_(6616652_?)del
NC_000017.10:g.(?_6616531)_(6616672_?)del
NC_000017.11:g.(?_6686187)_(6713353_?)del
NM_177550.5(SLC13A5):c.1056-1G>C rs113208940
NM_177550.5(SLC13A5):c.1096del (p.Leu366fs) rs2544620617
NM_177550.5(SLC13A5):c.1117C>T (p.Gln373Ter) rs2151485506
NM_177550.5(SLC13A5):c.1141del (p.Ser381fs) rs1555541486
NM_177550.5(SLC13A5):c.1207_1217dup (p.Pro407fs) rs863225447
NM_177550.5(SLC13A5):c.1276-1G>A rs1597657030
NM_177550.5(SLC13A5):c.1354_1358dup (p.Leu454fs)
NM_177550.5(SLC13A5):c.1412del (p.Leu471fs) rs2544612394
NM_177550.5(SLC13A5):c.1475del (p.Leu492fs) rs766330201
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs) rs1211773372
NM_177550.5(SLC13A5):c.15_19del (p.Ser6fs) rs2544661194
NM_177550.5(SLC13A5):c.308G>A (p.Trp103Ter) rs1597676674
NM_177550.5(SLC13A5):c.395_396del (p.Thr132fs)
NM_177550.5(SLC13A5):c.414G>A (p.Trp138Ter) rs2544641047
NM_177550.5(SLC13A5):c.646del (p.Ala216fs) rs2544638357
NM_177550.5(SLC13A5):c.758G>A (p.Trp253Ter) rs1973699766
NM_177550.5(SLC13A5):c.806G>A (p.Trp269Ter)
NM_177550.5(SLC13A5):c.812G>A (p.Trp271Ter) rs2544634307
NM_177550.5(SLC13A5):c.85_101delinsT (p.Ile29fs) rs2544660833
NM_177550.5(SLC13A5):c.930del (p.Leu312fs) rs1973546077

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