ClinVar Miner

List of variants in gene SLC13A5 reported by Mendelics

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Total variants: 6
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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.434C>T (p.Thr145Met) rs1202091819 0.00002
NM_177550.5(SLC13A5):c.1514C>T (p.Pro505Leu) rs936922976 0.00001
NM_177550.5(SLC13A5):c.103-1G>A rs1597677742
NM_177550.5(SLC13A5):c.1276-1G>A rs1597657030
NM_177550.5(SLC13A5):c.272T>C (p.Leu91Pro) rs1555543400

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