ClinVar Miner

List of variants studied for Polycystic kidney disease 4 by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr) rs1242089464 0.00001

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