ClinVar Miner

List of variants in gene SLC13A5 reported as pathogenic

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00004
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
GRCh38/hg38 17p13.1(chr17:6690682-6696039)x0
NC_000017.10:g.(?_6607177)_(6607395_?)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)
NM_177550.5(SLC13A5):c.1115C>A (p.Ser372Ter) rs2151485510
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.1227dup (p.Ile410fs) rs1057518299
NM_177550.5(SLC13A5):c.1276-1G>A rs1597657030
NM_177550.5(SLC13A5):c.1412del (p.Leu471fs)
NM_177550.5(SLC13A5):c.1463T>C (p.Leu488Pro) rs587777578
NM_177550.5(SLC13A5):c.1475T>C (p.Leu492Pro) rs1057519449
NM_177550.5(SLC13A5):c.1475del (p.Leu492fs) rs766330201
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs) rs1211773372
NM_177550.5(SLC13A5):c.1570G>C (p.Asp524His) rs863225448
NM_177550.5(SLC13A5):c.15_19del (p.Ser6fs)
NM_177550.5(SLC13A5):c.308G>A (p.Trp103Ter) rs1597676674
NM_177550.5(SLC13A5):c.414G>A (p.Trp138Ter)
NM_177550.5(SLC13A5):c.511del (p.Glu171fs) rs1057517820
NM_177550.5(SLC13A5):c.646del (p.Ala216fs)
NM_177550.5(SLC13A5):c.758G>A (p.Trp253Ter)
NM_177550.5(SLC13A5):c.812G>A (p.Trp271Ter)
NM_177550.5(SLC13A5):c.85_101delinsT (p.Ile29fs)
NM_177550.5(SLC13A5):c.930del (p.Leu312fs) rs1973546077

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