ClinVar Miner

List of variants in gene PKD2 reported by Department of Pathology and Laboratory Medicine, Sinai Health System

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Gene type:
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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.596-16C>T rs62310565 0.01932
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754 0.00985
NM_000297.4(PKD2):c.2134T>C (p.Leu712=) rs73841280 0.00563
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917 0.00481
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263 0.00312
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957 0.00280
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896 0.00176
NM_000297.4(PKD2):c.1830G>A (p.Ala610=) rs144968710 0.00091
NM_000297.4(PKD2):c.784G>A (p.Val262Met) rs138132026 0.00078
NM_000297.4(PKD2):c.1354A>G (p.Ile452Val) rs1801612 0.00065
NM_000297.4(PKD2):c.1546G>T (p.Val516Leu) rs143581690 0.00028
NM_000297.4(PKD2):c.595+15C>T rs559555727 0.00026
NM_000297.4(PKD2):c.2391A>C (p.Pro797=) rs556777891 0.00009
NM_000297.4(PKD2):c.2814A>G (p.Gln938=) rs573469832 0.00008
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.1548+9G>C rs376901684 0.00001
NM_000297.4(PKD2):c.1898+5G>A rs1553926929 0.00001
NM_000297.4(PKD2):c.2020-14T>C rs1164629640 0.00001
NM_000297.4(PKD2):c.2139C>T (p.Val713=) rs200707583 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.710-10T>G rs1727324181 0.00001
NM_000297.4(PKD2):c.711G>C (p.Leu237Phe) rs781318662 0.00001
NM_000297.4(PKD2):c.843+6T>C rs753371816 0.00001
NM_000297.4(PKD2):c.900G>C (p.Gln300His) rs1394365736 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_000297.4(PKD2):c.1094+1G>C rs58606740
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000297.4(PKD2):c.1176T>A (p.Tyr392Ter) rs924484889
NM_000297.4(PKD2):c.1262C>A (p.Ala421Glu) rs1727652224
NM_000297.4(PKD2):c.1322dup (p.Leu441fs) rs1727782355
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter) rs121918042
NM_000297.4(PKD2):c.1445del (p.Phe482fs) rs1578135940
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.1704dup (p.Val569fs) rs1720128947
NM_000297.4(PKD2):c.1709G>T (p.Trp570Leu) rs1720129428
NM_000297.4(PKD2):c.1716+2T>A rs1720129561
NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter) rs1553926905
NM_000297.4(PKD2):c.1810TTC[1] (p.Phe605del) rs1720323681
NM_000297.4(PKD2):c.1868_1872del (p.Val623fs) rs1720325828
NM_000297.4(PKD2):c.1986del (p.Thr663fs) rs1720430411
NM_000297.4(PKD2):c.1998_2001del (p.Phe666fs) rs1720431219
NM_000297.4(PKD2):c.2020-1_2020del rs1553927436
NM_000297.4(PKD2):c.2159dup (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) rs778896252
NM_000297.4(PKD2):c.2218G>T (p.Glu740Ter) rs770308463
NM_000297.4(PKD2):c.2240+1G>C rs1553927783
NM_000297.4(PKD2):c.2286C>G (p.Tyr762Ter) rs555242193
NM_000297.4(PKD2):c.2318A>G (p.His773Arg) rs748554287
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter) rs778235410
NM_000297.4(PKD2):c.2525T>G (p.Leu842Arg) rs1721170351
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.642_643dup (p.Lys215fs) rs1726676402
NM_000297.4(PKD2):c.662del (p.Leu221fs) rs1726677278
NM_000297.4(PKD2):c.670del (p.Leu224fs) rs1553924173
NM_000297.4(PKD2):c.709+1G>A rs398123308
NM_000297.4(PKD2):c.710-3C>G rs1727324496
NM_000297.4(PKD2):c.741C>G (p.Tyr247Ter) rs1578129049
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.860_861insG (p.Leu288fs) rs1727413597
NM_000297.4(PKD2):c.875A>C (p.Tyr292Ser) rs1560608538
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter) rs200001068
NM_000297.4(PKD2):c.954T>C (p.Val318=) rs1727418866
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter) rs749004212

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