ClinVar Miner

List of variants in gene PKD2 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.2241-14C>T rs763507546 0.00001
NM_000297.4(PKD2):c.1469A>T (p.Glu490Val) rs1727790126
NM_000297.4(PKD2):c.1669C>T (p.Gln557Ter) rs1273223177
NM_000297.4(PKD2):c.1857del (p.Phe619fs) rs1720325511
NM_000297.4(PKD2):c.2284_2287del (p.Tyr762fs) rs1553927823
NM_000297.4(PKD2):c.2549A>G (p.Glu850Gly) rs1721172803
NM_000297.4(PKD2):c.817_818del (p.Leu273fs) rs1057518969
NM_000297.4(PKD2):c.872T>C (p.Leu291Pro) rs1727414003
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter) rs200001068

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