ClinVar Miner

List of variants in gene PKD2 reported by Institute of Human Genetics, Cologne University

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.1031_1032delinsTA (p.Cys344Leu)
NM_000297.4(PKD2):c.1458C>G (p.Tyr486Ter) rs1135401753
NM_000297.4(PKD2):c.1492C>T (p.His498Tyr) rs1553926080
NM_000297.4(PKD2):c.1623_1626del (p.Asp541fs) rs1560617356
NM_000297.4(PKD2):c.1903A>C (p.Thr635Pro) rs2110129485
NM_000297.4(PKD2):c.2534G>C (p.Arg845Pro) rs755031837
NM_000297.4(PKD2):c.773T>C (p.Leu258Pro) rs2110104859

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