ClinVar Miner

List of variants studied for Nephrotic syndrome, type 13 by Revvity Omics, Revvity

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015135.3(NUP205):c.2453T>C (p.Leu818Pro) rs2486149925 0.00001
NM_015135.3(NUP205):c.5246T>C (p.Ile1749Thr) rs959518364 0.00001
NM_015135.3(NUP205):c.821C>T (p.Ala274Val) rs767119190 0.00001
NM_015135.3(NUP205):c.5789T>A (p.Leu1930Ter) rs2486236618

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