ClinVar Miner

List of variants in gene PKD2 reported as pathogenic by Athena Diagnostics Inc

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Gene type:
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.1094+1G>A rs58606740 0.00001
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter) rs1324209174 0.00001
NM_000297.4(PKD2):c.1319+1G>A rs1131692280 0.00001
NM_000297.4(PKD2):c.1898+5G>A rs1553926929 0.00001
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter) rs121918040 0.00001
NM_000297.4(PKD2):c.2419C>T (p.Arg807Ter) rs1276594505 0.00001
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter) rs1302726543 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter) rs1060503526 0.00001
NM_000297.4(PKD2):c.1158T>G (p.Tyr386Ter) rs571950456
NM_000297.4(PKD2):c.1194_1195del (p.Glu400fs) rs1727649413
NM_000297.4(PKD2):c.1365G>A (p.Trp455Ter) rs1578135870
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter) rs121918042
NM_000297.4(PKD2):c.1671_1678del (p.Phe558fs) rs1553926529
NM_000297.4(PKD2):c.2019+1G>A rs1553927080
NM_000297.4(PKD2):c.2159del (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2240+1G>A rs1553927783
NM_000297.4(PKD2):c.2440G>T (p.Glu814Ter) rs1578148821
NM_000297.4(PKD2):c.2498del (p.Gly833fs)
NM_000297.4(PKD2):c.2527del (p.Leu842_Val843insTer) rs1560632930
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter) rs755226061
NM_000297.4(PKD2):c.596-1G>T rs1560597874
NM_000297.4(PKD2):c.602G>A (p.Trp201Ter) rs1726673986
NM_000297.4(PKD2):c.603G>A (p.Trp201Ter) rs1553924158
NM_000297.4(PKD2):c.710-2A>G rs2110104722
NM_000297.4(PKD2):c.783dup (p.Val262fs) rs2110104877
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter) rs200001068

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