ClinVar Miner

List of variants in gene PKD2 reported as pathogenic

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Gene type:
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Total variants: 160
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) rs1578130676 0.00001
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.2533C>T (p.Arg845Ter) rs369678636 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.965G>A (p.Arg322Gln) rs145877597 0.00001
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter) rs1060503526 0.00001
GRCh37/hg19 4q22.1(chr4:88969129-88992580)x1
NC_000004.11:g.88957372-?_89042944+?dup
NC_000004.12:g.(?_88038231)_(88075714_?)del
NM_000297.4(PKD2):c.1018G>T (p.Glu340Ter) rs2110107236
NM_000297.4(PKD2):c.1039del (p.Val347fs) rs1727423812
NM_000297.4(PKD2):c.1043_1047del (p.Tyr348fs)
NM_000297.4(PKD2):c.1047dup (p.Val350fs) rs1578130597
NM_000297.4(PKD2):c.1087G>T (p.Gly363Ter)
NM_000297.4(PKD2):c.1088del (p.Gly363fs) rs1553925467
NM_000297.4(PKD2):c.1094+1G>C rs58606740
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000297.4(PKD2):c.1095-2A>T
NM_000297.4(PKD2):c.1139G>A (p.Trp380Ter) rs121918039
NM_000297.4(PKD2):c.1140G>A (p.Trp380Ter)
NM_000297.4(PKD2):c.1146_1149dup (p.Ala384fs) rs2110112083
NM_000297.4(PKD2):c.1158T>G (p.Tyr386Ter) rs571950456
NM_000297.4(PKD2):c.1176T>A (p.Tyr392Ter) rs924484889
NM_000297.4(PKD2):c.1178_1227dup (p.Lys410fs) rs1727648258
NM_000297.4(PKD2):c.1194_1195del (p.Glu400fs) rs1727649413
NM_000297.4(PKD2):c.1197del (p.Glu400fs) rs2110112181
NM_000297.4(PKD2):c.1205del (p.Thr402fs) rs2110112194
NM_000297.4(PKD2):c.1213C>T (p.Gln405Ter) rs121918041
NM_000297.4(PKD2):c.1320-2del rs1578135823
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser) rs886041114
NM_000297.4(PKD2):c.1322dup (p.Leu441fs) rs1727782355
NM_000297.4(PKD2):c.1325T>A (p.Leu442Ter) rs1391596181
NM_000297.4(PKD2):c.1325del (p.Leu442fs) rs1578135829
NM_000297.4(PKD2):c.1349G>A (p.Gly450Asp) rs1578135842
NM_000297.4(PKD2):c.1365G>A (p.Trp455Ter) rs1578135870
NM_000297.4(PKD2):c.1366C>T (p.Gln456Ter) rs2110115819
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter) rs121918042
NM_000297.4(PKD2):c.1445del (p.Phe482fs) rs1578135940
NM_000297.4(PKD2):c.1458C>G (p.Tyr486Ter) rs1135401753
NM_000297.4(PKD2):c.1480G>T (p.Glu494Ter) rs1727790591
NM_000297.4(PKD2):c.1508del (p.Phe503fs)
NM_000297.4(PKD2):c.1521G>A (p.Trp507Ter)
NM_000297.4(PKD2):c.1532A>T (p.Asp511Val) rs121918043
NM_000297.4(PKD2):c.1548+1G>A rs752024467
NM_000297.4(PKD2):c.1549-1G>A rs1720121027
NM_000297.4(PKD2):c.1551del (p.Ser518fs) rs776718970
NM_000297.4(PKD2):c.1579_1580del (p.Tyr527fs) rs1553926509
NM_000297.4(PKD2):c.1609C>T (p.Gln537Ter) rs1720124087
NM_000297.4(PKD2):c.1662G>A (p.Trp554Ter) rs1720126853
NM_000297.4(PKD2):c.1663C>T (p.Gln555Ter) rs1720127024
NM_000297.4(PKD2):c.1668dup (p.Gln557fs) rs1578139269
NM_000297.4(PKD2):c.1669C>T (p.Gln557Ter) rs1273223177
NM_000297.4(PKD2):c.1671_1678del (p.Phe558fs) rs1553926529
NM_000297.4(PKD2):c.1678_1679del (p.Asn560fs)
NM_000297.4(PKD2):c.1704dup (p.Val569fs) rs1720128947
NM_000297.4(PKD2):c.1716+2T>A rs1720129561
NM_000297.4(PKD2):c.1737_1746delinsAACAGG (p.Phe579Leufs) rs1560620277
NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter) rs1553926905
NM_000297.4(PKD2):c.1792_1794delinsCCAAA (p.Phe598fs)
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter) rs2110127334
NM_000297.4(PKD2):c.1857del (p.Phe619fs) rs1720325511
NM_000297.4(PKD2):c.1864C>T (p.Gln622Ter)
NM_000297.4(PKD2):c.1868_1872del (p.Val623fs) rs1720325828
NM_000297.4(PKD2):c.1925del (p.Gly642fs)
NM_000297.4(PKD2):c.1934_1935delinsT (p.Asn645fs) rs1560621750
NM_000297.4(PKD2):c.1960C>T (p.Arg654Ter) rs146396414
NM_000297.4(PKD2):c.1979_1982del (p.Tyr660fs) rs2110129645
NM_000297.4(PKD2):c.1985del (p.Thr662fs) rs2110129653
NM_000297.4(PKD2):c.1986del (p.Thr663fs) rs1720430411
NM_000297.4(PKD2):c.1998_2001del (p.Phe666fs) rs1720431219
NM_000297.4(PKD2):c.2019+1G>A rs1553927080
NM_000297.4(PKD2):c.2019+1_2019+5del rs1578142941
NM_000297.4(PKD2):c.2020-1_2020del rs1553927436
NM_000297.4(PKD2):c.2050_2053del (p.Tyr684fs)
NM_000297.4(PKD2):c.2051dup (p.Tyr684Ter) rs1578144873
NM_000297.4(PKD2):c.2052C>A (p.Tyr684Ter) rs2110133998
NM_000297.4(PKD2):c.2101_2102del (p.Ser701fs) rs1578144898
NM_000297.4(PKD2):c.2102C>G (p.Ser701Ter)
NM_000297.4(PKD2):c.2118+1G>C rs1720594399
NM_000297.4(PKD2):c.2119-1603_2522+740del
NM_000297.4(PKD2):c.2119-2A>G rs1720752309
NM_000297.4(PKD2):c.2125del (p.His709fs) rs2110137964
NM_000297.4(PKD2):c.2159del (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2159dup (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2210del (p.Asn737fs)
NM_000297.4(PKD2):c.2218G>T (p.Glu740Ter) rs770308463
NM_000297.4(PKD2):c.2240+1G>A rs1553927783
NM_000297.4(PKD2):c.2240+1G>C rs1553927783
NM_000297.4(PKD2):c.2241-2A>G rs1560626499
NM_000297.4(PKD2):c.2242A>T (p.Lys748Ter) rs1578147448
NM_000297.4(PKD2):c.2284_2287del (p.Tyr762fs) rs1553927823
NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter) rs555242193
NM_000297.4(PKD2):c.2286C>G (p.Tyr762Ter) rs555242193
NM_000297.4(PKD2):c.2358+1G>A
NM_000297.4(PKD2):c.2358+1G>C rs2110138755
NM_000297.4(PKD2):c.2358+1G>T
NM_000297.4(PKD2):c.2378_2384del (p.His793fs) rs1720855394
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter) rs778235410
NM_000297.4(PKD2):c.2435_2436del (p.Asp811_Ser812insTer)
NM_000297.4(PKD2):c.2440G>T (p.Glu814Ter) rs1578148821
NM_000297.4(PKD2):c.2498del (p.Gly833fs)
NM_000297.4(PKD2):c.2503dup (p.Ser835fs) rs1560628245
NM_000297.4(PKD2):c.2508C>A (p.Tyr836Ter) rs757682666
NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter) rs757682666
NM_000297.4(PKD2):c.2517del (p.Gln840fs) rs2110141387
NM_000297.4(PKD2):c.2522+1_2522+2del rs1720863460
NM_000297.4(PKD2):c.2523-1G>A rs1553928728
NM_000297.4(PKD2):c.2524del (p.Leu842fs) rs1553928730
NM_000297.4(PKD2):c.2527del (p.Leu842_Val843insTer) rs1560632930
NM_000297.4(PKD2):c.2548dup (p.Glu850fs)
NM_000297.4(PKD2):c.2584del (p.Ala862fs) rs2110150747
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter) rs755226061
NM_000297.4(PKD2):c.2770C>T (p.Gln924Ter)
NM_000297.4(PKD2):c.2814del (p.Gln938fs)
NM_000297.4(PKD2):c.2844del (p.Ser949fs) rs1721205608
NM_000297.4(PKD2):c.595+1G>A rs1578111778
NM_000297.4(PKD2):c.595+1G>C rs1578111778
NM_000297.4(PKD2):c.595+2T>C rs1018717398
NM_000297.4(PKD2):c.596-12_599del
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.605del (p.Gly202fs) rs2110089194
NM_000297.4(PKD2):c.640G>T (p.Glu214Ter) rs2110089248
NM_000297.4(PKD2):c.642_643dup (p.Lys215fs) rs1726676402
NM_000297.4(PKD2):c.654_655del (p.Ser219fs) rs1578118330
NM_000297.4(PKD2):c.655_661del (p.Ser219fs)
NM_000297.4(PKD2):c.662del (p.Leu221fs) rs1726677278
NM_000297.4(PKD2):c.670del (p.Leu224fs) rs1553924173
NM_000297.4(PKD2):c.681C>A (p.Tyr227Ter)
NM_000297.4(PKD2):c.693dup (p.Ile232fs) rs1560598042
NM_000297.4(PKD2):c.709+1G>A rs398123308
NM_000297.4(PKD2):c.709+1G>T rs398123308
NM_000297.4(PKD2):c.710-1G>A rs2110104725
NM_000297.4(PKD2):c.710-2A>G rs2110104722
NM_000297.4(PKD2):c.717C>A (p.Tyr239Ter) rs780351760
NM_000297.4(PKD2):c.741C>G (p.Tyr247Ter) rs1578129049
NM_000297.4(PKD2):c.744C>A (p.Tyr248Ter) rs1727326556
NM_000297.4(PKD2):c.753del (p.Arg251_Met252insTer) rs2110104830
NM_000297.4(PKD2):c.763C>T (p.Gln255Ter)
NM_000297.4(PKD2):c.783dup (p.Val262fs) rs2110104877
NM_000297.4(PKD2):c.816del (p.Leu273fs)
NM_000297.4(PKD2):c.817_818del (p.Leu273fs) rs1057518969
NM_000297.4(PKD2):c.843+1G>A rs1727333593
NM_000297.4(PKD2):c.844-2A>G rs1727412388
NM_000297.4(PKD2):c.848_849dup (p.Glu284fs) rs1727412539
NM_000297.4(PKD2):c.860T>G (p.Leu287Ter) rs1727413505
NM_000297.4(PKD2):c.860_861insG (p.Leu288fs) rs1727413597
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter) rs200001068
NM_000297.4(PKD2):c.952dup (p.Val318fs) rs2110107069
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter) rs749004212
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln) rs1727420867
NM_000297.4(PKD2):c.986del (p.Gly329fs) rs1553925459
NM_000297.4(PKD2):c.999delinsAGA (p.Pro334fs) rs1560608729

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