ClinVar Miner

List of variants in gene SLC13A5 reported as pathogenic by GeneDx

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
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.425C>T (p.Thr142Met) rs761917087 0.00001
NM_177550.5(SLC13A5):c.1115C>A (p.Ser372Ter) rs2151485510
NM_177550.5(SLC13A5):c.1227dup (p.Ile410fs) rs1057518299
NM_177550.5(SLC13A5):c.511del (p.Glu171fs) rs1057517820

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