ClinVar Miner

List of variants studied for Polycystic kidney disease 4 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605 0.00002
NM_138694.4(PKHD1):c.429T>G (p.Tyr143Ter) rs1811318008
NM_138694.4(PKHD1):c.8020_8021del (p.Leu2674fs) rs1771488619
NM_138694.4(PKHD1):c.9625A>C (p.Ser3209Arg) rs1785450007

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