ClinVar Miner

List of variants studied for Focal segmental glomerulosclerosis and neurodevelopmental syndrome by OMIM

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_030912.3(TRIM8):c.1163del (p.Phe388fs) rs2135984840
NM_030912.3(TRIM8):c.1198_1220del (p.Tyr400fs) rs2135984894
NM_030912.3(TRIM8):c.1231C>T (p.Gln411Ter) rs2135984949
NM_030912.3(TRIM8):c.1331C>A (p.Ser444Ter) rs1386357224
NM_030912.3(TRIM8):c.1333C>T (p.Gln445Ter) rs2135985076
NM_030912.3(TRIM8):c.1338T>A (p.Tyr446Ter) rs2135985089
NM_030912.3(TRIM8):c.1375C>T (p.Gln459Ter) rs866294686
NM_030912.3(TRIM8):c.1380T>A (p.Tyr460Ter) rs2135985150

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