ClinVar Miner

List of variants in gene PKD2 studied for Autosomal dominant polycystic kidney disease

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 438
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.844-22G>A rs2725221 0.66782
NM_000297.4(PKD2):c.1094+92A>G rs17013735 0.10175
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.2720G>A (p.Arg907Gln) rs150947109 0.00086
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.1082G>A (p.Arg361Gln) rs753359659 0.00036
NM_000297.4(PKD2):c.2829C>T (p.Ser943=) rs138495345 0.00036
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.2866G>A (p.Glu956Lys) rs142701912 0.00023
NM_000297.4(PKD2):c.2286C>T (p.Tyr762=) rs555242193 0.00017
NM_000297.4(PKD2):c.1223G>T (p.Ser408Ile) rs148386297 0.00014
NM_000297.4(PKD2):c.1459T>C (p.Tyr487His) rs201328200 0.00014
NM_000297.4(PKD2):c.2583C>T (p.Asp861=) rs369520452 0.00014
NM_000297.4(PKD2):c.752G>A (p.Arg251Gln) rs147000344 0.00014
NM_000297.4(PKD2):c.994T>G (p.Ser332Ala) rs200314088 0.00013
NM_000297.4(PKD2):c.1092C>T (p.Thr364=) rs149257723 0.00011
NM_000297.4(PKD2):c.2399T>C (p.Met800Thr) rs376271163 0.00011
NM_000297.4(PKD2):c.2523-7C>T rs199528409 0.00011
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.1959T>C (p.Asn653=) rs371979633 0.00009
NM_000297.4(PKD2):c.2391A>C (p.Pro797=) rs556777891 0.00009
NM_000297.4(PKD2):c.2725G>A (p.Val909Ile) rs140848008 0.00009
NM_000297.4(PKD2):c.709+17C>T rs757367196 0.00009
NM_000297.4(PKD2):c.1035T>C (p.Tyr345=) rs113818977 0.00008
NM_000297.4(PKD2):c.1717-7C>T rs201267638 0.00008
NM_000297.4(PKD2):c.2814A>G (p.Gln938=) rs573469832 0.00008
NM_000297.4(PKD2):c.1549-4T>C rs374450718 0.00007
NM_000297.4(PKD2):c.2283G>A (p.Lys761=) rs753806545 0.00007
NM_000297.4(PKD2):c.2499C>T (p.Gly833=) rs180709531 0.00007
NM_000297.4(PKD2):c.1654G>C (p.Ala552Pro) rs369908107 0.00006
NM_000297.4(PKD2):c.2240+10A>G rs201679112 0.00006
NM_000297.4(PKD2):c.1873G>A (p.Asp625Asn) rs757573744 0.00005
NM_000297.4(PKD2):c.1927G>A (p.Asp643Asn) rs748354306 0.00005
NM_000297.4(PKD2):c.2388A>G (p.Leu796=) rs535577967 0.00005
NM_000297.4(PKD2):c.2491T>C (p.Ser831Pro) rs149728995 0.00005
NM_000297.4(PKD2):c.1050C>T (p.Val350=) rs767319449 0.00004
NM_000297.4(PKD2):c.1444T>G (p.Phe482Val) rs201504575 0.00004
NM_000297.4(PKD2):c.1542C>T (p.Ile514=) rs145716012 0.00004
NM_000297.4(PKD2):c.1555G>A (p.Val519Met) rs148920907 0.00004
NM_000297.4(PKD2):c.2186T>A (p.Leu729Gln) rs569788968 0.00004
NM_000297.4(PKD2):c.2241-9T>C rs886059702 0.00004
NM_000297.4(PKD2):c.2338G>A (p.Asp780Asn) rs773557612 0.00004
NM_000297.4(PKD2):c.2508C>T (p.Tyr836=) rs757682666 0.00004
NM_000297.4(PKD2):c.2522+16T>C rs202206741 0.00004
NM_000297.4(PKD2):c.2754C>T (p.Ser918=) rs748855749 0.00004
NM_000297.4(PKD2):c.2792C>T (p.Thr931Met) rs368926162 0.00004
NM_000297.4(PKD2):c.2901C>T (p.His967=) rs757154198 0.00004
NM_000297.4(PKD2):c.794C>T (p.Thr265Met) rs569250922 0.00004
NM_000297.4(PKD2):c.1869C>G (p.Val623=) rs148228357 0.00003
NM_000297.4(PKD2):c.2118+19C>T rs777790980 0.00003
NM_000297.4(PKD2):c.2313C>T (p.Thr771=) rs544014723 0.00003
NM_000297.4(PKD2):c.2408G>A (p.Arg803Gln) rs771211716 0.00003
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.1781C>T (p.Ala594Val) rs769963846 0.00002
NM_000297.4(PKD2):c.2188C>T (p.Arg730Trp) rs749112798 0.00002
NM_000297.4(PKD2):c.2314G>A (p.Glu772Lys) rs774525905 0.00002
NM_000297.4(PKD2):c.2448C>T (p.Asp816=) rs371289455 0.00002
NM_000297.4(PKD2):c.2555C>G (p.Ser852Cys) rs773003992 0.00002
NM_000297.4(PKD2):c.2586C>T (p.Ala862=) rs373043298 0.00002
NM_000297.4(PKD2):c.2755G>A (p.Asp919Asn) rs370489860 0.00002
NM_000297.4(PKD2):c.2780A>C (p.His927Pro) rs374072424 0.00002
NM_000297.4(PKD2):c.2816C>T (p.Pro939Leu) rs750360835 0.00002
NM_000297.4(PKD2):c.961A>G (p.Ile321Val) rs778569884 0.00002
NM_000297.4(PKD2):c.*1941del rs886059710 0.00001
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) rs1578130676 0.00001
NM_000297.4(PKD2):c.1151C>A (p.Ala384Glu) rs1408612463 0.00001
NM_000297.4(PKD2):c.1153A>G (p.Thr385Ala) rs1331921848 0.00001
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter) rs1324209174 0.00001
NM_000297.4(PKD2):c.1281A>T (p.Ser427=) rs367859449 0.00001
NM_000297.4(PKD2):c.1319+1G>A rs1131692280 0.00001
NM_000297.4(PKD2):c.1320G>A (p.Arg440=) rs886041114 0.00001
NM_000297.4(PKD2):c.1395T>C (p.Tyr465=) rs1199709583 0.00001
NM_000297.4(PKD2):c.1548+13A>G rs1213173514 0.00001
NM_000297.4(PKD2):c.1548+9G>C rs376901684 0.00001
NM_000297.4(PKD2):c.1658A>G (p.Tyr553Cys) rs752554282 0.00001
NM_000297.4(PKD2):c.1731C>G (p.Ile577Met) rs985821858 0.00001
NM_000297.4(PKD2):c.1829C>T (p.Ala610Val) rs1339345208 0.00001
NM_000297.4(PKD2):c.1898+5G>A rs1553926929 0.00001
NM_000297.4(PKD2):c.1902C>T (p.Phe634=) rs368390451 0.00001
NM_000297.4(PKD2):c.1931T>C (p.Ile644Thr) rs137929700 0.00001
NM_000297.4(PKD2):c.1938T>C (p.Phe646=) rs772994340 0.00001
NM_000297.4(PKD2):c.1985C>T (p.Thr662Ile) rs142983796 0.00001
NM_000297.4(PKD2):c.2119-13C>T rs755404719 0.00001
NM_000297.4(PKD2):c.2124C>T (p.Tyr708=) rs772904125 0.00001
NM_000297.4(PKD2):c.2139C>T (p.Val713=) rs200707583 0.00001
NM_000297.4(PKD2):c.2162C>G (p.Thr721Ser) rs751589219 0.00001
NM_000297.4(PKD2):c.2200G>A (p.Gly734Ser) rs747895445 0.00001
NM_000297.4(PKD2):c.2205G>A (p.Lys735=) rs368245083 0.00001
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter) rs121918040 0.00001
NM_000297.4(PKD2):c.2241-14C>T rs763507546 0.00001
NM_000297.4(PKD2):c.2265T>C (p.Ile755=) rs750408408 0.00001
NM_000297.4(PKD2):c.2428G>A (p.Asp810Asn) rs775470869 0.00001
NM_000297.4(PKD2):c.2449G>A (p.Asp817Asn) rs761597786 0.00001
NM_000297.4(PKD2):c.2460C>T (p.Ser820=) rs572822238 0.00001
NM_000297.4(PKD2):c.2486G>A (p.Ser829Asn) rs140589899 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.2585C>T (p.Ala862Val) rs767919784 0.00001
NM_000297.4(PKD2):c.2592C>T (p.Ile864=) rs1224247739 0.00001
NM_000297.4(PKD2):c.2613G>A (p.Glu871=) rs1458107200 0.00001
NM_000297.4(PKD2):c.2668G>A (p.Glu890Lys) rs770609334 0.00001
NM_000297.4(PKD2):c.2762C>T (p.Ala921Val) rs545898956 0.00001
NM_000297.4(PKD2):c.2837C>T (p.Pro946Leu) rs370039125 0.00001
NM_000297.4(PKD2):c.2838A>G (p.Pro946=) rs373794310 0.00001
NM_000297.4(PKD2):c.2904A>C (p.Val968=) rs777215141 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.710-10T>G rs1727324181 0.00001
NM_000297.4(PKD2):c.710-11C>A rs764334983 0.00001
NM_000297.4(PKD2):c.717C>T (p.Tyr239=) rs780351760 0.00001
NM_000297.4(PKD2):c.724A>G (p.Met242Val) rs748163182 0.00001
NM_000297.4(PKD2):c.783C>T (p.Pro261=) rs766343471 0.00001
NM_000297.4(PKD2):c.795G>A (p.Thr265=) rs758220304 0.00001
NM_000297.4(PKD2):c.843+6T>C rs753371816 0.00001
NM_000297.4(PKD2):c.858C>A (p.Ser286=) rs1181336830 0.00001
NM_000297.4(PKD2):c.901A>G (p.Thr301Ala) rs759567768 0.00001
NM_000297.4(PKD2):c.914A>G (p.Asn305Ser) rs1727416682 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
NC_000004.12:g.(?_88038231)_(88075714_?)del
NM_000297.4(PKD2):c.*1357CTT[1] rs886059708
NM_000297.4(PKD2):c.*184dup rs533244915
NM_000297.4(PKD2):c.*235dup rs200938134
NM_000297.4(PKD2):c.*512_*513del rs570887943
NM_000297.4(PKD2):c.1018G>T (p.Glu340Ter) rs2110107236
NM_000297.4(PKD2):c.1027G>C (p.Glu343Gln) rs2110107239
NM_000297.4(PKD2):c.1033T>A (p.Tyr345Asn) rs1485588385
NM_000297.4(PKD2):c.1043_1047del (p.Tyr348fs)
NM_000297.4(PKD2):c.1048G>T (p.Val350Phe)
NM_000297.4(PKD2):c.1057G>A (p.Glu353Lys) rs375164861
NM_000297.4(PKD2):c.1071C>A (p.Pro357=)
NM_000297.4(PKD2):c.1092C>G (p.Thr364=)
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000297.4(PKD2):c.1095-2A>T
NM_000297.4(PKD2):c.1103A>G (p.Tyr368Cys) rs2110112018
NM_000297.4(PKD2):c.1104C>T (p.Tyr368=)
NM_000297.4(PKD2):c.1106C>G (p.Thr369Arg) rs2110112025
NM_000297.4(PKD2):c.1126G>A (p.Gly376Ser)
NM_000297.4(PKD2):c.1130G>A (p.Ser377Asn)
NM_000297.4(PKD2):c.1133G>A (p.Ser378Asn)
NM_000297.4(PKD2):c.1136A>G (p.His379Arg)
NM_000297.4(PKD2):c.1137C>G (p.His379Gln)
NM_000297.4(PKD2):c.1144A>C (p.Ile382Leu)
NM_000297.4(PKD2):c.1144A>G (p.Ile382Val)
NM_000297.4(PKD2):c.1146C>A (p.Ile382=) rs1351905972
NM_000297.4(PKD2):c.1146_1149dup (p.Ala384fs) rs2110112083
NM_000297.4(PKD2):c.1152A>T (p.Ala384=)
NM_000297.4(PKD2):c.1161T>C (p.Ser387=)
NM_000297.4(PKD2):c.1172A>G (p.Tyr391Cys)
NM_000297.4(PKD2):c.1176T>C (p.Tyr392=)
NM_000297.4(PKD2):c.1178_1227dup (p.Lys410fs) rs1727648258
NM_000297.4(PKD2):c.1205del (p.Thr402fs) rs2110112194
NM_000297.4(PKD2):c.1219G>A (p.Ala407Thr)
NM_000297.4(PKD2):c.1246G>C (p.Asp416His)
NM_000297.4(PKD2):c.1257C>T (p.Thr419=)
NM_000297.4(PKD2):c.1259G>A (p.Arg420Lys)
NM_000297.4(PKD2):c.1261G>A (p.Ala421Thr) rs748280556
NM_000297.4(PKD2):c.1261G>T (p.Ala421Ser) rs748280556
NM_000297.4(PKD2):c.1273G>C (p.Asp425His) rs1727652728
NM_000297.4(PKD2):c.1276T>C (p.Phe426Leu)
NM_000297.4(PKD2):c.1278C>T (p.Phe426=)
NM_000297.4(PKD2):c.1283T>C (p.Val428Ala)
NM_000297.4(PKD2):c.1283T>G (p.Val428Gly)
NM_000297.4(PKD2):c.1284G>A (p.Val428=)
NM_000297.4(PKD2):c.1290C>A (p.Asn430Lys) rs554608570
NM_000297.4(PKD2):c.1290C>T (p.Asn430=)
NM_000297.4(PKD2):c.1291G>A (p.Ala431Thr)
NM_000297.4(PKD2):c.1319+13G>A
NM_000297.4(PKD2):c.1320-15C>G
NM_000297.4(PKD2):c.1320-18G>A
NM_000297.4(PKD2):c.1320-6A>G
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser) rs886041114
NM_000297.4(PKD2):c.1325T>A (p.Leu442Ter) rs1391596181
NM_000297.4(PKD2):c.1326G>T (p.Leu442Phe)
NM_000297.4(PKD2):c.1342A>G (p.Thr448Ala) rs745700907
NM_000297.4(PKD2):c.1346G>A (p.Gly449Asp) rs1131408
NM_000297.4(PKD2):c.1346G>C (p.Gly449Ala)
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.1368A>G (p.Gln456=)
NM_000297.4(PKD2):c.1373A>C (p.Gln458Pro)
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter) rs121918042
NM_000297.4(PKD2):c.1396G>T (p.Val466Phe)
NM_000297.4(PKD2):c.1423G>T (p.Ala475Ser)
NM_000297.4(PKD2):c.1437C>T (p.Ile479=)
NM_000297.4(PKD2):c.1460A>G (p.Tyr487Cys)
NM_000297.4(PKD2):c.1477T>C (p.Leu493=)
NM_000297.4(PKD2):c.1486C>T (p.Arg496Cys) rs977431912
NM_000297.4(PKD2):c.1489A>G (p.Ile497Val)
NM_000297.4(PKD2):c.1492C>G (p.His498Asp) rs1553926080
NM_000297.4(PKD2):c.1492C>T (p.His498Tyr) rs1553926080
NM_000297.4(PKD2):c.1500A>G (p.Leu500=)
NM_000297.4(PKD2):c.1502A>G (p.His501Arg)
NM_000297.4(PKD2):c.1521G>A (p.Trp507Ter)
NM_000297.4(PKD2):c.1523A>G (p.Asn508Ser)
NM_000297.4(PKD2):c.1542C>G (p.Ile514Met)
NM_000297.4(PKD2):c.1548+10A>G
NM_000297.4(PKD2):c.1548+1G>A rs752024467
NM_000297.4(PKD2):c.1549-20A>G
NM_000297.4(PKD2):c.1557G>A (p.Val519=)
NM_000297.4(PKD2):c.1564A>C (p.Ile522Leu)
NM_000297.4(PKD2):c.1564A>G (p.Ile522Val)
NM_000297.4(PKD2):c.1565T>C (p.Ile522Thr)
NM_000297.4(PKD2):c.1577T>A (p.Ile526Lys) rs1578139175
NM_000297.4(PKD2):c.1579_1580del (p.Tyr527fs) rs1553926509
NM_000297.4(PKD2):c.1580A>G (p.Tyr527Cys)
NM_000297.4(PKD2):c.1587A>T (p.Thr529=) rs375543446
NM_000297.4(PKD2):c.1591A>G (p.Asn531Asp)
NM_000297.4(PKD2):c.1594G>T (p.Val532Leu)
NM_000297.4(PKD2):c.1604T>C (p.Leu535Pro)
NM_000297.4(PKD2):c.1606C>T (p.Leu536=) rs983462333
NM_000297.4(PKD2):c.1617G>A (p.Leu539=) rs145297759
NM_000297.4(PKD2):c.1646A>G (p.Glu549Gly)
NM_000297.4(PKD2):c.1654G>A (p.Ala552Thr)
NM_000297.4(PKD2):c.1671G>A (p.Gln557=)
NM_000297.4(PKD2):c.1678_1679del (p.Asn560fs)
NM_000297.4(PKD2):c.1705G>T (p.Val569Phe)
NM_000297.4(PKD2):c.1716+14T>G
NM_000297.4(PKD2):c.1716+17A>G rs142580445
NM_000297.4(PKD2):c.1716+18T>C
NM_000297.4(PKD2):c.1717-20A>G
NM_000297.4(PKD2):c.1717-6T>A
NM_000297.4(PKD2):c.1725A>G (p.Lys575=)
NM_000297.4(PKD2):c.1733A>G (p.Asn578Ser)
NM_000297.4(PKD2):c.1743G>A (p.Arg581=)
NM_000297.4(PKD2):c.1755G>C (p.Gln585His)
NM_000297.4(PKD2):c.1760C>T (p.Ser587Leu)
NM_000297.4(PKD2):c.1762A>G (p.Thr588Ala)
NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter) rs1553926905
NM_000297.4(PKD2):c.1775G>C (p.Arg592Pro)
NM_000297.4(PKD2):c.1808T>C (p.Met603Thr)
NM_000297.4(PKD2):c.1816A>T (p.Ile606Phe) rs755666887
NM_000297.4(PKD2):c.1827A>G (p.Leu609=)
NM_000297.4(PKD2):c.1843G>A (p.Ala615Thr)
NM_000297.4(PKD2):c.1864C>T (p.Gln622Ter)
NM_000297.4(PKD2):c.1893G>A (p.Glu631=)
NM_000297.4(PKD2):c.1896T>C (p.Cys632=)
NM_000297.4(PKD2):c.1898+11A>G rs768940917
NM_000297.4(PKD2):c.1899-17T>C
NM_000297.4(PKD2):c.1899-6T>G rs398123306
NM_000297.4(PKD2):c.1912C>T (p.Arg638Cys)
NM_000297.4(PKD2):c.1913G>A (p.Arg638His)
NM_000297.4(PKD2):c.1918A>G (p.Ile640Val)
NM_000297.4(PKD2):c.1925del (p.Gly642fs)
NM_000297.4(PKD2):c.1929T>C (p.Asp643=)
NM_000297.4(PKD2):c.1945A>G (p.Ile649Val)
NM_000297.4(PKD2):c.1948G>A (p.Glu650Lys)
NM_000297.4(PKD2):c.1967T>G (p.Leu656Trp) rs138476749
NM_000297.4(PKD2):c.1969G>A (p.Gly657Arg)
NM_000297.4(PKD2):c.1985del (p.Thr662fs) rs2110129653
NM_000297.4(PKD2):c.1986T>C (p.Thr662=)
NM_000297.4(PKD2):c.1988C>T (p.Thr663Ile) rs1720430638
NM_000297.4(PKD2):c.2019+1G>A rs1553927080
NM_000297.4(PKD2):c.2020-19T>C rs776437852
NM_000297.4(PKD2):c.2020-1_2020del rs1553927436
NM_000297.4(PKD2):c.2020-2A>G
NM_000297.4(PKD2):c.2035A>G (p.Ile679Val)
NM_000297.4(PKD2):c.2040C>T (p.Ile680=)
NM_000297.4(PKD2):c.2042A>G (p.Asn681Ser)
NM_000297.4(PKD2):c.2062A>G (p.Lys688Glu) rs2110134005
NM_000297.4(PKD2):c.2089G>C (p.Glu697Gln)
NM_000297.4(PKD2):c.2093T>C (p.Met698Thr)
NM_000297.4(PKD2):c.2101_2102del (p.Ser701fs) rs1578144898
NM_000297.4(PKD2):c.2106T>A (p.Asp702Glu) rs1409281141
NM_000297.4(PKD2):c.2118+10del
NM_000297.4(PKD2):c.2118+1G>C rs1720594399
NM_000297.4(PKD2):c.2118+2T>C
NM_000297.4(PKD2):c.2125del (p.His709fs) rs2110137964
NM_000297.4(PKD2):c.2139C>G (p.Val713=)
NM_000297.4(PKD2):c.2140A>G (p.Lys714Glu)
NM_000297.4(PKD2):c.2154A>C (p.Lys718Asn)
NM_000297.4(PKD2):c.2159dup (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2164G>A (p.Val722Met)
NM_000297.4(PKD2):c.2164G>T (p.Val722Leu) rs529945469
NM_000297.4(PKD2):c.2178A>T (p.Ser726=)
NM_000297.4(PKD2):c.2184_2185delinsAG (p.Ser728_Leu729delinsArgVal)
NM_000297.4(PKD2):c.2186T>C (p.Leu729Pro)
NM_000297.4(PKD2):c.2189G>A (p.Arg730Gln)
NM_000297.4(PKD2):c.2196A>C (p.Gly732=) rs2110138104
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.2231A>G (p.Asp744Gly) rs763311767
NM_000297.4(PKD2):c.2241-12C>T
NM_000297.4(PKD2):c.2241-8A>G
NM_000297.4(PKD2):c.2246G>A (p.Gly749Asp)
NM_000297.4(PKD2):c.2262G>A (p.Glu754=)
NM_000297.4(PKD2):c.2272A>G (p.Ile758Val)
NM_000297.4(PKD2):c.2313C>A (p.Thr771=) rs544014723
NM_000297.4(PKD2):c.2313C>G (p.Thr771=)
NM_000297.4(PKD2):c.2317C>T (p.His773Tyr)
NM_000297.4(PKD2):c.2318A>G (p.His773Arg) rs748554287
NM_000297.4(PKD2):c.2333T>C (p.Met778Thr) rs2110138695
NM_000297.4(PKD2):c.2336G>A (p.Arg779Lys)
NM_000297.4(PKD2):c.2338G>C (p.Asp780His) rs773557612
NM_000297.4(PKD2):c.2340C>A (p.Asp780Glu)
NM_000297.4(PKD2):c.2340C>T (p.Asp780=)
NM_000297.4(PKD2):c.2343C>A (p.Asp781Glu)
NM_000297.4(PKD2):c.2352A>G (p.Lys784=)
NM_000297.4(PKD2):c.2353G>A (p.Glu785Lys)
NM_000297.4(PKD2):c.2358+5G>A rs1720774022
NM_000297.4(PKD2):c.2358+6T>C
NM_000297.4(PKD2):c.2358+8_2358+21del rs747163995
NM_000297.4(PKD2):c.2359-12C>G
NM_000297.4(PKD2):c.2359-20A>G
NM_000297.4(PKD2):c.2359-7del rs1034495207
NM_000297.4(PKD2):c.2359-7dup
NM_000297.4(PKD2):c.2377C>T (p.His793Tyr) rs1720855480
NM_000297.4(PKD2):c.2383T>C (p.Ser795Pro)
NM_000297.4(PKD2):c.2388A>T (p.Leu796Phe)
NM_000297.4(PKD2):c.2393G>A (p.Arg798His)
NM_000297.4(PKD2):c.2400G>A (p.Met800Ile)
NM_000297.4(PKD2):c.2407C>G (p.Arg803Gly)
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter) rs778235410
NM_000297.4(PKD2):c.2416C>T (p.Pro806Ser)
NM_000297.4(PKD2):c.2484A>G (p.Gly828=) rs889600957
NM_000297.4(PKD2):c.2500G>A (p.Val834Ile)
NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter) rs757682666
NM_000297.4(PKD2):c.2509G>A (p.Glu837Lys)
NM_000297.4(PKD2):c.2522+12G>A
NM_000297.4(PKD2):c.2522+2dup
NM_000297.4(PKD2):c.2523-3C>A
NM_000297.4(PKD2):c.2524del (p.Leu842fs) rs1553928730
NM_000297.4(PKD2):c.2559C>T (p.Ile853=)
NM_000297.4(PKD2):c.2563A>G (p.Ser855Gly)
NM_000297.4(PKD2):c.2571G>A (p.Val857=)
NM_000297.4(PKD2):c.2572T>A (p.Ser858Thr)
NM_000297.4(PKD2):c.2584del (p.Ala862fs) rs2110150747
NM_000297.4(PKD2):c.2602G>A (p.Glu868Lys) rs754032659
NM_000297.4(PKD2):c.2614C>A (p.Arg872=)
NM_000297.4(PKD2):c.2614C>G (p.Arg872Gly) rs755226061
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter) rs755226061
NM_000297.4(PKD2):c.2615G>A (p.Arg872Gln)
NM_000297.4(PKD2):c.2627A>G (p.Lys876Arg) rs2110150855
NM_000297.4(PKD2):c.2629AGG[1] (p.Arg878del)
NM_000297.4(PKD2):c.2637G>A (p.Glu879=)
NM_000297.4(PKD2):c.2649del (p.Arg883fs)
NM_000297.4(PKD2):c.2652G>A (p.Leu884=)
NM_000297.4(PKD2):c.2667C>T (p.Ala889=)
NM_000297.4(PKD2):c.2670+12T>C
NM_000297.4(PKD2):c.2671-14T>A
NM_000297.4(PKD2):c.2671-3dup
NM_000297.4(PKD2):c.2671G>T (p.Asp891Tyr)
NM_000297.4(PKD2):c.2687G>A (p.Arg896His)
NM_000297.4(PKD2):c.2692A>C (p.Ser898Arg)
NM_000297.4(PKD2):c.2703T>C (p.His901=)
NM_000297.4(PKD2):c.2707G>C (p.Glu903Gln)
NM_000297.4(PKD2):c.2719C>T (p.Arg907Trp)
NM_000297.4(PKD2):c.2728C>T (p.Arg910Cys) rs377398357
NM_000297.4(PKD2):c.2729G>A (p.Arg910His)
NM_000297.4(PKD2):c.2729G>C (p.Arg910Pro) rs144590958
NM_000297.4(PKD2):c.2730T>C (p.Arg910=)
NM_000297.4(PKD2):c.2760T>C (p.Asp920=)
NM_000297.4(PKD2):c.2773A>T (p.Ile925Phe) rs888130252
NM_000297.4(PKD2):c.2793G>A (p.Thr931=)
NM_000297.4(PKD2):c.2819G>A (p.Arg940His) rs756158263
NM_000297.4(PKD2):c.2828G>C (p.Ser943Thr) rs2110151913
NM_000297.4(PKD2):c.2834G>A (p.Arg945His)
NM_000297.4(PKD2):c.2834G>T (p.Arg945Leu)
NM_000297.4(PKD2):c.2846C>G (p.Ser949Cys) rs749666891
NM_000297.4(PKD2):c.2846C>T (p.Ser949Phe) rs749666891
NM_000297.4(PKD2):c.2850A>G (p.Gln950=)
NM_000297.4(PKD2):c.2855C>T (p.Thr952Ile)
NM_000297.4(PKD2):c.2891C>G (p.Ser964Cys)
NM_000297.4(PKD2):c.2902G>A (p.Val968Ile)
NM_000297.4(PKD2):c.595+11G>T
NM_000297.4(PKD2):c.595+13G>A
NM_000297.4(PKD2):c.595+16C>T
NM_000297.4(PKD2):c.595+1G>A rs1578111778
NM_000297.4(PKD2):c.595+2T>C rs1018717398
NM_000297.4(PKD2):c.595+3A>G
NM_000297.4(PKD2):c.595G>A (p.Gly199Ser) rs1726264964
NM_000297.4(PKD2):c.605del (p.Gly202fs) rs2110089194
NM_000297.4(PKD2):c.608C>G (p.Thr203Arg)
NM_000297.4(PKD2):c.608C>T (p.Thr203Ile)
NM_000297.4(PKD2):c.617T>C (p.Met206Thr)
NM_000297.4(PKD2):c.638G>A (p.Arg213Gln)
NM_000297.4(PKD2):c.640G>T (p.Glu214Ter) rs2110089248
NM_000297.4(PKD2):c.646T>A (p.Tyr216Asn)
NM_000297.4(PKD2):c.655A>C (p.Ser219Arg)
NM_000297.4(PKD2):c.655A>G (p.Ser219Gly)
NM_000297.4(PKD2):c.655_661del (p.Ser219fs)
NM_000297.4(PKD2):c.696A>C (p.Ile232=)
NM_000297.4(PKD2):c.699C>T (p.Val233=)
NM_000297.4(PKD2):c.705C>T (p.Cys235=)
NM_000297.4(PKD2):c.709+1G>A rs398123308
NM_000297.4(PKD2):c.709+9A>C
NM_000297.4(PKD2):c.710-1G>A rs2110104725
NM_000297.4(PKD2):c.710-7G>A
NM_000297.4(PKD2):c.713C>T (p.Thr238Ile)
NM_000297.4(PKD2):c.718G>A (p.Gly240Ser)
NM_000297.4(PKD2):c.721A>G (p.Met241Val)
NM_000297.4(PKD2):c.735T>G (p.Asn245Lys)
NM_000297.4(PKD2):c.743A>G (p.Tyr248Cys)
NM_000297.4(PKD2):c.750C>T (p.Thr250=)
NM_000297.4(PKD2):c.751C>T (p.Arg251Trp)
NM_000297.4(PKD2):c.764A>C (p.Gln255Pro)
NM_000297.4(PKD2):c.776A>C (p.Asp259Ala) rs768028361
NM_000297.4(PKD2):c.780C>T (p.Thr260=)
NM_000297.4(PKD2):c.783dup (p.Val262fs) rs2110104877
NM_000297.4(PKD2):c.813A>G (p.Lys271=)
NM_000297.4(PKD2):c.814A>G (p.Thr272Ala)
NM_000297.4(PKD2):c.816del (p.Leu273fs)
NM_000297.4(PKD2):c.826A>G (p.Met276Val)
NM_000297.4(PKD2):c.843+57T>C rs17786456
NM_000297.4(PKD2):c.843G>A (p.Lys281=) rs1727333486
NM_000297.4(PKD2):c.843G>C (p.Lys281Asn) rs1727333486
NM_000297.4(PKD2):c.844-19A>G
NM_000297.4(PKD2):c.844-20G>T
NM_000297.4(PKD2):c.844-6T>A
NM_000297.4(PKD2):c.844-7C>A
NM_000297.4(PKD2):c.847A>G (p.Thr283Ala)
NM_000297.4(PKD2):c.856T>A (p.Ser286Thr)
NM_000297.4(PKD2):c.860T>G (p.Leu287Ter) rs1727413505
NM_000297.4(PKD2):c.892A>G (p.Ser298Gly)
NM_000297.4(PKD2):c.908C>G (p.Ala303Gly)
NM_000297.4(PKD2):c.911A>T (p.Asp304Val)
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter) rs200001068
NM_000297.4(PKD2):c.917G>A (p.Arg306Gln)
NM_000297.4(PKD2):c.932A>G (p.Tyr311Cys)
NM_000297.4(PKD2):c.940C>T (p.Leu314=)
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter) rs749004212
NM_000297.4(PKD2):c.965G>T (p.Arg322Leu) rs145877597
NM_000297.4(PKD2):c.966G>T (p.Arg322=)
NM_000297.4(PKD2):c.972C>T (p.Leu324=)
NM_000297.4(PKD2):c.997A>G (p.Ile333Val)

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