ClinVar Miner

List of variants in gene PKD2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 222
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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.*1120C>T rs116540621 0.00805
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.2411G>A (p.Ser804Asn) rs145343957 0.00280
NM_000297.4(PKD2):c.*1113G>A rs541524392 0.00232
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896 0.00176
NM_000297.4(PKD2):c.*552G>A rs139787413 0.00123
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.1836T>C (p.Ala612=) rs145952917 0.00048
NM_000297.4(PKD2):c.1617G>C (p.Leu539=) rs145297759 0.00044
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.1459T>C (p.Tyr487His) rs201328200 0.00014
NM_000297.4(PKD2):c.994T>G (p.Ser332Ala) rs200314088 0.00013
NM_000297.4(PKD2):c.2523-7C>T rs199528409 0.00011
NM_000297.4(PKD2):c.1433T>G (p.Ile478Ser) rs765496869 0.00010
NM_000297.4(PKD2):c.2392C>T (p.Arg798Cys) rs150838063 0.00010
NM_000297.4(PKD2):c.733A>C (p.Asn245His) rs200543024 0.00010
NM_000297.4(PKD2):c.1549-4T>C rs374450718 0.00007
NM_000297.4(PKD2):c.1873G>A (p.Asp625Asn) rs757573744 0.00005
NM_000297.4(PKD2):c.1444T>G (p.Phe482Val) rs201504575 0.00004
NM_000297.4(PKD2):c.2792C>T (p.Thr931Met) rs368926162 0.00004
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.2188C>T (p.Arg730Trp) rs749112798 0.00002
NM_000297.4(PKD2):c.2214T>C (p.Phe738=) rs772819278 0.00002
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) rs1578130676 0.00001
NM_000297.4(PKD2):c.1093G>A (p.Ala365Thr) rs926203174 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.1724A>G (p.Lys575Arg) rs181037821 0.00001
NM_000297.4(PKD2):c.1898+5G>A rs1553926929 0.00001
NM_000297.4(PKD2):c.2139C>T (p.Val713=) rs200707583 0.00001
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter) rs121918040 0.00001
NM_000297.4(PKD2):c.2295T>C (p.Asp765=) rs138982773 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.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.621G>A (p.Glu207=) rs769630264 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(chr4:88927707-88929365)x1
GRCh37/hg19 4q22.1(chr4:88927707-88929365)x3
GRCh37/hg19 4q22.1(chr4:88928399-88929179)x1
GRCh37/hg19 4q22.1(chr4:88928399-88929365)x1
GRCh37/hg19 4q22.1(chr4:88928399-88930841)x3
GRCh37/hg19 4q22.1(chr4:88928738-88930841)x4
GRCh37/hg19 4q22.1(chr4:88928738-88932272)x0
GRCh37/hg19 4q22.1(chr4:88928738-88932272)x3
GRCh37/hg19 4q22.1(chr4:88928738-88933584)x1
GRCh37/hg19 4q22.1(chr4:88928777-88929230)x3
GRCh37/hg19 4q22.1(chr4:88928816-88929179)x1
GRCh37/hg19 4q22.1(chr4:88928816-88929365)x1
GRCh37/hg19 4q22.1(chr4:88928816-88930841)x1
GRCh37/hg19 4q22.1(chr4:88928877-88929179)x1
GRCh37/hg19 4q22.1(chr4:88928877-88929365)x1
NC_000004.12:g.88007383G>C rs9994525
NM_000297.4(PKD2):c.*235dup rs200938134
NM_000297.4(PKD2):c.1039del (p.Val347fs) rs1727423812
NM_000297.4(PKD2):c.1043A>G (p.Tyr348Cys)
NM_000297.4(PKD2):c.1057G>A (p.Glu353Lys) rs375164861
NM_000297.4(PKD2):c.1061A>G (p.Asp354Gly) rs1560608801
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.1158T>G (p.Tyr386Ter) rs571950456
NM_000297.4(PKD2):c.1193delinsAA (p.Thr398fs) rs1578133684
NM_000297.4(PKD2):c.1194_1195del (p.Glu400fs) rs1727649413
NM_000297.4(PKD2):c.1235dup (p.Asn412fs) rs1727650877
NM_000297.4(PKD2):c.1258A>G (p.Arg420Gly) rs1727651995
NM_000297.4(PKD2):c.1298T>C (p.Ile433Thr) rs1192846098
NM_000297.4(PKD2):c.1319+5G>A rs2110112343
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser) rs886041114
NM_000297.4(PKD2):c.1326G>T (p.Leu442Phe)
NM_000297.4(PKD2):c.1345G>C (p.Gly449Arg) rs1727783547
NM_000297.4(PKD2):c.1346G>T (p.Gly449Val) rs1131408
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.1390C>T (p.Arg464Ter) rs121918042
NM_000297.4(PKD2):c.1548+1G>A rs752024467
NM_000297.4(PKD2):c.1548+314dup rs35144940
NM_000297.4(PKD2):c.1548G>A (p.Val516=)
NM_000297.4(PKD2):c.1549-1G>A rs1720121027
NM_000297.4(PKD2):c.1556T>A (p.Val519Glu)
NM_000297.4(PKD2):c.1587A>T (p.Thr529=) rs375543446
NM_000297.4(PKD2):c.1641C>A (p.Asn547Lys)
NM_000297.4(PKD2):c.1668dup (p.Gln557fs) rs1578139269
NM_000297.4(PKD2):c.1671_1678del (p.Phe558fs) rs1553926529
NM_000297.4(PKD2):c.1716+137del rs70957296
NM_000297.4(PKD2):c.1717-33C>T
NM_000297.4(PKD2):c.1760C>T (p.Ser587Leu)
NM_000297.4(PKD2):c.1765A>G (p.Thr589Ala) rs777230304
NM_000297.4(PKD2):c.1796G>A (p.Gly599Asp) rs1560620374
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter) rs2110127334
NM_000297.4(PKD2):c.1899-2A>T
NM_000297.4(PKD2):c.1899-6T>G rs398123306
NM_000297.4(PKD2):c.1906C>A (p.Gln636Lys) rs398123307
NM_000297.4(PKD2):c.1912C>T (p.Arg638Cys)
NM_000297.4(PKD2):c.1929dup (p.Ile644fs) rs1720428157
NM_000297.4(PKD2):c.1960C>T (p.Arg654Ter) rs146396414
NM_000297.4(PKD2):c.1973del (p.Pro658fs) rs1720429890
NM_000297.4(PKD2):c.2019+1G>A rs1553927080
NM_000297.4(PKD2):c.2019+5G>A rs1578142944
NM_000297.4(PKD2):c.2019G>T (p.Leu673Phe)
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.2051_2053del (p.Tyr684del) rs1578144872
NM_000297.4(PKD2):c.2101_2102del (p.Ser701fs) rs1578144898
NM_000297.4(PKD2):c.2118+10dup rs756472871
NM_000297.4(PKD2):c.2119-1603_2522+740del
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.2197G>T (p.Gly733Ter) rs778707203
NM_000297.4(PKD2):c.2207T>C (p.Leu736Ser) rs868519938
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.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.2274_2275dup (p.Phe759fs) rs1560626561
NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter) rs555242193
NM_000297.4(PKD2):c.2291A>T (p.Gln764Leu) rs1553927827
NM_000297.4(PKD2):c.2302C>G (p.Gln768Glu)
NM_000297.4(PKD2):c.2305G>T (p.Glu769Ter) rs1255557802
NM_000297.4(PKD2):c.2318A>G (p.His773Arg) rs748554287
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.2440G>T (p.Glu814Ter) rs1578148821
NM_000297.4(PKD2):c.2461G>A (p.Gly821Arg)
NM_000297.4(PKD2):c.2498del (p.Gly833fs)
NM_000297.4(PKD2):c.2500G>A (p.Val834Ile)
NM_000297.4(PKD2):c.2527del (p.Leu842_Val843insTer) rs1560632930
NM_000297.4(PKD2):c.2568dup (p.Val857fs) rs1578153553
NM_000297.4(PKD2):c.2584del (p.Ala862fs) rs2110150747
NM_000297.4(PKD2):c.2600T>C (p.Leu867Pro) rs1578153598
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.2651T>C (p.Leu884Pro)
NM_000297.4(PKD2):c.2670+27G>A
NM_000297.4(PKD2):c.2670G>A (p.Glu890=) rs2110150904
NM_000297.4(PKD2):c.2719C>T (p.Arg907Trp)
NM_000297.4(PKD2):c.2729G>C (p.Arg910Pro) rs144590958
NM_000297.4(PKD2):c.2807del (p.Asn936fs) rs1721203306
NM_000297.4(PKD2):c.2819G>A (p.Arg940His) rs756158263
NM_000297.4(PKD2):c.2846C>G (p.Ser949Cys) rs749666891
NM_000297.4(PKD2):c.596-116del rs200521275
NM_000297.4(PKD2):c.596-116dup rs200521275
NM_000297.4(PKD2):c.596-1G>T rs1560597874
NM_000297.4(PKD2):c.596-59A>G
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.681C>A (p.Tyr227Ter)
NM_000297.4(PKD2):c.709+1G>A rs398123308
NM_000297.4(PKD2):c.709+1G>T rs398123308
NM_000297.4(PKD2):c.709+6T>G rs1726679832
NM_000297.4(PKD2):c.710-10T>C
NM_000297.4(PKD2):c.710-2A>G rs2110104722
NM_000297.4(PKD2):c.710-4539T>C
NM_000297.4(PKD2):c.710-6T>C rs1578129010
NM_000297.4(PKD2):c.717C>A (p.Tyr239Ter) rs780351760
NM_000297.4(PKD2):c.773T>C (p.Leu258Pro) rs2110104859
NM_000297.4(PKD2):c.779C>A (p.Thr260Asn)
NM_000297.4(PKD2):c.783dup (p.Val262fs) rs2110104877
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.875A>G (p.Tyr292Cys) rs1560608538
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
NM_000297.4(PKD2):c.992G>C (p.Cys331Ser) rs1578130536

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