ClinVar Miner

List of variants studied for Renal tubular dysgenesis by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001384479.1(AGT):c.77G>A (p.Arg26Gln) rs776421645 0.00001
NM_000537.4(REN):c.299_300del (p.Lys100fs) rs2102314045
NM_000789.4(ACE):c.3296G>A (p.Gly1099Asp) rs775421383

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