ClinVar Miner

List of variants in gene PKD2 reported by Gharavi Laboratory, Columbia University

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.1444T>G (p.Phe482Val) rs201504575 0.00004
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter) rs1324209174 0.00001
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter) rs121918040 0.00001
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter) rs369678636 0.00001
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter) rs1302726543 0.00001
NM_000297.4(PKD2):c.1061A>G (p.Asp354Gly) rs1560608801
NM_000297.4(PKD2):c.1548+1G>A rs752024467
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) rs778896252
NM_000297.4(PKD2):c.2240+1G>A rs1553927783
NM_000297.4(PKD2):c.2241-2A>G rs1560626499
NM_000297.4(PKD2):c.2274_2275dup (p.Phe759fs) rs1560626561
NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter) rs555242193
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter) rs755226061
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter) rs200001068
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter) rs749004212

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