ClinVar Miner

List of variants in gene PKD2 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.595+207T>C rs2725235 0.78129
NM_000297.4(PKD2):c.844-22G>A rs2725221 0.66782
NM_000297.4(PKD2):c.1716+117A>G rs2725210 0.33871
NM_000297.4(PKD2):c.1716+310T>C rs2728103 0.32205
NM_000297.4(PKD2):c.2523-169T>C rs2725203 0.31587
NM_000297.4(PKD2):c.2019+274C>A rs2725207 0.30999
NM_000297.4(PKD2):c.2358+245A>T rs11938025 0.25379
NM_000297.4(PKD2):c.1548+321A>G rs10031265 0.21880
NM_000297.4(PKD2):c.*256C>T rs2728121 0.13098
NM_000297.4(PKD2):c.1094+92A>G rs17013735 0.10175
NM_000297.4(PKD2):c.1094+308T>C rs2725219 0.08801
NM_000297.4(PKD2):c.1549-137T>C rs2728104 0.08736
NM_000297.4(PKD2):c.843+218C>A rs2728109 0.07940
NM_000297.4(PKD2):c.1094+324T>A rs7674673 0.05311
NM_000297.4(PKD2):c.709+300G>T rs76951105 0.03913
NM_000297.4(PKD2):c.596-87T>A rs72873461 0.03287
NM_000297.4(PKD2):c.1549-47C>T rs75331451 0.01955
NM_000297.4(PKD2):c.596-281C>T rs858 0.01827
NM_000297.4(PKD2):c.1320-196A>T rs77991231 0.01516
NM_000297.4(PKD2):c.1548+242T>C rs76491349 0.01513
NM_000297.4(PKD2):c.2358+288T>A rs188453003 0.01148
NM_000297.4(PKD2):c.2358+290A>G rs192262797 0.01147
NM_000297.4(PKD2):c.710-29G>A rs72873478 0.01046
NM_000297.4(PKD2):c.2358+23G>A rs10516804 0.01042
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754 0.00985
NM_000297.4(PKD2):c.1549-117G>C rs79352425 0.00965
NM_000297.4(PKD2):c.2134T>C (p.Leu712=) rs73841280 0.00563
NM_000297.4(PKD2):c.2119-35T>C rs78885971 0.00524
NM_000297.4(PKD2):c.843+116A>G rs114532947 0.00499
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917 0.00481
NM_000297.4(PKD2):c.2240+114C>T rs1282890679 0.00381
NM_000297.4(PKD2):c.1319+158G>A rs192899890 0.00332
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263 0.00312
NM_000297.4(PKD2):c.2359-196A>C rs144707808 0.00289
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.1354A>G (p.Ile452Val) rs1801612 0.00065
NM_000297.4(PKD2):c.1836T>C (p.Ala612=) rs145952917 0.00048
NM_000297.4(PKD2):c.1617G>C (p.Leu539=) rs145297759 0.00044
NM_000297.4(PKD2):c.595+15C>T rs559555727 0.00026
NM_000297.4(PKD2):c.1459T>C (p.Tyr487His) rs201328200 0.00014
NM_000297.4(PKD2):c.2523-7C>T rs199528409 0.00011
NM_000297.4(PKD2):c.2543G>A (p.Arg848Gln) rs201598917 0.00003
NM_000297.4(PKD2):c.1394A>G (p.Tyr465Cys) rs773998492 0.00002
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.2533C>T (p.Arg845Ter) rs369678636 0.00001
NM_000297.4(PKD2):c.2560G>A (p.Gly854Ser) rs1334898127 0.00001
NM_000297.4(PKD2):c.2668G>A (p.Glu890Lys) rs770609334 0.00001
NM_000297.4(PKD2):c.2714T>C (p.Met905Thr) rs373039260 0.00001
NM_000297.4(PKD2):c.614T>A (p.Leu205His) rs1064796616 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
NC_000004.12:g.88007383G>C rs9994525
NM_000297.4(PKD2):c.*235dup rs200938134
NM_000297.4(PKD2):c.1043A>G (p.Tyr348Cys)
NM_000297.4(PKD2):c.1057G>A (p.Glu353Lys) rs375164861
NM_000297.4(PKD2):c.1087G>T (p.Gly363Ter)
NM_000297.4(PKD2):c.1094+269G>C rs2725220
NM_000297.4(PKD2):c.1094+315G>C rs2725218
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000297.4(PKD2):c.1140G>A (p.Trp380Ter)
NM_000297.4(PKD2):c.1258A>G (p.Arg420Gly) rs1727651995
NM_000297.4(PKD2):c.1319+5G>A rs2110112343
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser) rs886041114
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.1548+314dup rs35144940
NM_000297.4(PKD2):c.1587A>T (p.Thr529=) rs375543446
NM_000297.4(PKD2):c.1716+137del rs70957296
NM_000297.4(PKD2):c.1717-33C>T
NM_000297.4(PKD2):c.1765A>G (p.Thr589Ala) rs777230304
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter) rs2110127334
NM_000297.4(PKD2):c.1960C>T (p.Arg654Ter) rs146396414
NM_000297.4(PKD2):c.2019+1G>A rs1553927080
NM_000297.4(PKD2):c.2020-158del rs60055635
NM_000297.4(PKD2):c.2020-158dup rs60055635
NM_000297.4(PKD2):c.2020-1_2020del rs1553927436
NM_000297.4(PKD2):c.2050_2053del (p.Tyr684fs)
NM_000297.4(PKD2):c.2159del (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2159dup (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2164G>T (p.Val722Leu) rs529945469
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) rs778896252
NM_000297.4(PKD2):c.2240+113del rs111465406
NM_000297.4(PKD2):c.2240+113dup rs111465406
NM_000297.4(PKD2):c.2291A>T (p.Gln764Leu) rs1553927827
NM_000297.4(PKD2):c.2358+1G>C rs2110138755
NM_000297.4(PKD2):c.2358+1G>T
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter) rs778235410
NM_000297.4(PKD2):c.2500G>A (p.Val834Ile)
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.2627A>G (p.Lys876Arg) rs2110150855
NM_000297.4(PKD2):c.2670+27G>A
NM_000297.4(PKD2):c.2719C>T (p.Arg907Trp)
NM_000297.4(PKD2):c.2729G>C (p.Arg910Pro) rs144590958
NM_000297.4(PKD2):c.596-116del rs200521275
NM_000297.4(PKD2):c.596-116dup rs200521275
NM_000297.4(PKD2):c.596-59A>G
NM_000297.4(PKD2):c.681C>A (p.Tyr227Ter)
NM_000297.4(PKD2):c.709+1G>A rs398123308
NM_000297.4(PKD2):c.710-10T>C
NM_000297.4(PKD2):c.710-2A>G rs2110104722
NM_000297.4(PKD2):c.773T>C (p.Leu258Pro) rs2110104859
NM_000297.4(PKD2):c.779C>A (p.Thr260Asn)
NM_000297.4(PKD2):c.832G>T (p.Asp278Tyr)
NM_000297.4(PKD2):c.838T>C (p.Trp280Arg) rs2110104970
NM_000297.4(PKD2):c.843+57T>C rs17786456
NM_000297.4(PKD2):c.843G>A (p.Lys281=) rs1727333486
NM_000297.4(PKD2):c.915C>A (p.Asn305Lys)
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.992G>A (p.Cys331Tyr) rs1578130536

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