ClinVar Miner

List of variants in gene LAGE3 studied for Galloway-Mowat syndrome 2, X-linked

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006014.5(LAGE3):c.*19G>C rs6567 0.20303
NM_006014.5(LAGE3):c.362T>C (p.Ile121Thr) rs146063259 0.00026
NM_006014.5(LAGE3):c.287A>T (p.Asp96Val) rs201041758 0.00001
NM_006014.5(LAGE3):c.189-2A>G
NM_006014.5(LAGE3):c.262C>T (p.Pro88Ser)
NM_006014.5(LAGE3):c.2T>G (p.Met1Arg)
NM_006014.5(LAGE3):c.316G>T (p.Val106Phe) rs1557211306
NM_006014.5(LAGE3):c.410T>C (p.Phe137Ser) rs1557211209

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