ClinVar Miner

List of variants studied for Polycystic kidney disease 4 by Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.11425G>A (p.Gly3809Ser) rs1363452328
NM_138694.4(PKHD1):c.11542G>C (p.Val3848Leu)
NM_138694.4(PKHD1):c.1260del (p.Thr421fs)
NM_138694.4(PKHD1):c.5835C>A (p.Asn1945Lys)

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