ClinVar Miner

List of variants studied for Polycystic kidney disease 2

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Minimum conflict level:
ClinVar version:
Total variants: 323
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.844-22G>A rs2725221 0.66782
NM_000297.4(PKD2):c.*1237G>A rs10965 0.25694
NM_000297.4(PKD2):c.83G>C (p.Arg28Pro) rs1805044 0.23760
NM_000297.4(PKD2):c.*256C>T rs2728121 0.13098
NM_000297.4(PKD2):c.420G>A (p.Gly140=) rs2728118 0.08616
NM_000297.4(PKD2):c.*1030G>A rs2725202 0.08186
NM_000297.4(PKD2):c.568G>A (p.Ala190Thr) rs117078377 0.02396
NM_000297.4(PKD2):c.596-16C>T rs62310565 0.01932
NM_000297.4(PKD2):c.*837C>G rs77638442 0.01121
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.*1120C>T rs116540621 0.00805
NM_000297.4(PKD2):c.444C>T (p.Gly148=) rs181704860 0.00680
NM_000297.4(PKD2):c.2134T>C (p.Leu712=) rs73841280 0.00563
NM_000297.4(PKD2):c.570G>T (p.Ala190=) rs541702320 0.00554
NM_000297.4(PKD2):c.2119-35T>C rs78885971 0.00524
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.*239T>G rs147418332 0.00237
NM_000297.4(PKD2):c.*384T>C rs192342290 0.00237
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.-26C>T rs530444554 0.00134
NM_000297.4(PKD2):c.*552G>A rs139787413 0.00123
NM_000297.4(PKD2):c.441G>A (p.Ala147=) rs866815144 0.00109
NM_000297.4(PKD2):c.*1397G>A rs563444129 0.00102
NM_000297.4(PKD2):c.*957T>A rs143594425 0.00098
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.*174G>T rs187001642 0.00069
NM_000297.4(PKD2):c.-68A>G rs547865163 0.00065
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.402G>A (p.Val134=) rs886059696 0.00042
NM_000297.4(PKD2):c.403G>A (p.Gly135Ser) rs886059697 0.00042
NM_000297.4(PKD2):c.*604G>A rs377022187 0.00037
NM_000297.4(PKD2):c.*1997T>C rs375324508 0.00036
NM_000297.4(PKD2):c.*794C>A rs370387859 0.00036
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.*110T>G rs563547032 0.00035
NM_000297.4(PKD2):c.*1588G>A rs758211189 0.00034
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.*1221T>C rs577956232 0.00025
NM_000297.4(PKD2):c.*1406C>G rs748885735 0.00023
NM_000297.4(PKD2):c.*1152T>C rs367711189 0.00015
NM_000297.4(PKD2):c.2583C>T (p.Asp861=) rs369520452 0.00014
NM_000297.4(PKD2):c.994T>G (p.Ser332Ala) rs200314088 0.00013
NM_000297.4(PKD2):c.9C>T (p.Asn3=) rs773343245 0.00012
NM_000297.4(PKD2):c.-47G>C rs770096557 0.00011
NM_000297.4(PKD2):c.1092C>T (p.Thr364=) rs149257723 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.356G>A (p.Arg119His) rs748654180 0.00010
NM_000297.4(PKD2):c.733A>C (p.Asn245His) rs200543024 0.00010
NM_000297.4(PKD2):c.2391A>C (p.Pro797=) rs556777891 0.00009
NM_000297.4(PKD2):c.*1250A>G rs971004998 0.00008
NM_000297.4(PKD2):c.1717-7C>T rs201267638 0.00008
NM_000297.4(PKD2):c.203C>A (p.Pro68Gln) rs751221093 0.00008
NM_000297.4(PKD2):c.2814A>G (p.Gln938=) rs573469832 0.00008
NM_000297.4(PKD2):c.154C>A (p.Leu52Met) rs886059694 0.00007
NM_000297.4(PKD2):c.2499C>T (p.Gly833=) rs180709531 0.00007
NM_000297.4(PKD2):c.419G>A (p.Gly140Glu) rs776779368 0.00007
NM_000297.4(PKD2):c.*744G>A rs886059706 0.00006
NM_000297.4(PKD2):c.103G>A (p.Ala35Thr) rs759263638 0.00006
NM_000297.4(PKD2):c.104C>A (p.Ala35Asp) rs765176523 0.00006
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.*968A>G rs531591196 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.1444T>G (p.Phe482Val) rs201504575 0.00004
NM_000297.4(PKD2):c.1487G>A (p.Arg496His) rs746049242 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.514G>T (p.Asp172Tyr) rs886059698 0.00004
NM_000297.4(PKD2):c.*1654T>C rs778483971 0.00003
NM_000297.4(PKD2):c.2118+19C>T rs777790980 0.00003
NM_000297.4(PKD2):c.2408G>A (p.Arg803Gln) rs771211716 0.00003
NM_000297.4(PKD2):c.*1826A>G rs189817187 0.00002
NM_000297.4(PKD2):c.1250G>A (p.Arg417Gln) rs142261953 0.00002
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.2314G>A (p.Glu772Lys) rs774525905 0.00002
NM_000297.4(PKD2):c.2755G>A (p.Asp919Asn) rs370489860 0.00002
NM_000297.4(PKD2):c.587G>C (p.Gly196Ala) rs1377684533 0.00002
NM_000297.4(PKD2):c.*116C>T rs529071216 0.00001
NM_000297.4(PKD2):c.*1175T>A rs886059707 0.00001
NM_000297.4(PKD2):c.*1291T>C rs1325998362 0.00001
NM_000297.4(PKD2):c.*351T>C rs1166143834 0.00001
NM_000297.4(PKD2):c.-64C>T rs886059693 0.00001
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.1148T>C (p.Ile383Thr) rs144431856 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.1319+1G>A rs1131692280 0.00001
NM_000297.4(PKD2):c.1320G>A (p.Arg440=) rs886041114 0.00001
NM_000297.4(PKD2):c.1548+9G>C rs376901684 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.1931T>C (p.Ile644Thr) rs137929700 0.00001
NM_000297.4(PKD2):c.199C>T (p.Pro67Ser) rs1426011277 0.00001
NM_000297.4(PKD2):c.2139C>T (p.Val713=) rs200707583 0.00001
NM_000297.4(PKD2):c.2200G>A (p.Gly734Ser) rs747895445 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.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.251G>A (p.Arg84Gln) rs1326556150 0.00001
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter) rs369678636 0.00001
NM_000297.4(PKD2):c.2585C>T (p.Ala862Val) rs767919784 0.00001
NM_000297.4(PKD2):c.2668G>A (p.Glu890Lys) rs770609334 0.00001
NM_000297.4(PKD2):c.2743C>T (p.Arg915Cys) rs1215199829 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.2902G>C (p.Val968Leu) rs549787080 0.00001
NM_000297.4(PKD2):c.485C>T (p.Pro162Leu) rs1034653764 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.783C>T (p.Pro261=) rs766343471 0.00001
NM_000297.4(PKD2):c.945G>A (p.Leu315=) rs201789789 0.00001
NM_000297.4(PKD2):c.95G>A (p.Gly32Asp) rs1393526656 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(chr4:88973122-88979275)
NC_000004.11:g.(88940724_88957371)_(88957506_88959402)del
NC_000004.11:g.88957372-?_89042944+?dup
NC_000004.12:g.(?_88928831)_(88996847_?)del
NM_000297.4(PKD2):c.*1010G>A rs144024108
NM_000297.4(PKD2):c.*1611T>G rs886059709
NM_000297.4(PKD2):c.*1972C>G rs1721278680
NM_000297.4(PKD2):c.*2000G>A rs182468664
NM_000297.4(PKD2):c.*507T>G rs772523897
NM_000297.4(PKD2):c.*515A>G rs1721229575
NM_000297.4(PKD2):c.-82G>A rs529779778
NM_000297.4(PKD2):c.-82G>C rs529779778
NM_000297.4(PKD2):c.1018G>T (p.Glu340Ter) rs2110107236
NM_000297.4(PKD2):c.1026del (p.Glu343fs)
NM_000297.4(PKD2):c.1031_1032delinsTA (p.Cys344Leu)
NM_000297.4(PKD2):c.1047dup (p.Val350fs) rs1578130597
NM_000297.4(PKD2):c.1057G>A (p.Glu353Lys) rs375164861
NM_000297.4(PKD2):c.1088del (p.Gly363fs) rs1553925467
NM_000297.4(PKD2):c.1094+1del rs2110107353
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000297.4(PKD2):c.1095-1G>T
NM_000297.4(PKD2):c.109G>A (p.Gly37Ser) rs1007960523
NM_000297.4(PKD2):c.110del (p.Gly37fs) rs2110080128
NM_000297.4(PKD2):c.1114A>G (p.Lys372Glu) rs188394492
NM_000297.4(PKD2):c.1116dup (p.Asp373fs) rs2110112037
NM_000297.4(PKD2):c.111_117delinsGG (p.Ser39fs) rs1726227364
NM_000297.4(PKD2):c.1129A>C (p.Ser377Arg)
NM_000297.4(PKD2):c.1139G>A (p.Trp380Ter) rs121918039
NM_000297.4(PKD2):c.1146C>A (p.Ile382=) rs1351905972
NM_000297.4(PKD2):c.1168G>A (p.Gly390Ser) rs1578133666
NM_000297.4(PKD2):c.1181_1183del (p.Asp394_Leu395delinsVal)
NM_000297.4(PKD2):c.1197del (p.Glu400fs) rs2110112181
NM_000297.4(PKD2):c.1213C>T (p.Gln405Ter) rs121918041
NM_000297.4(PKD2):c.1231_1239dup (p.Val413_Trp414insLysAsnVal)
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.1320-2del rs1578135823
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser) rs886041114
NM_000297.4(PKD2):c.1325del (p.Leu442fs) rs1578135829
NM_000297.4(PKD2):c.1345G>C (p.Gly449Arg) rs1727783547
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.1390del (p.Arg464fs) rs1727786451
NM_000297.4(PKD2):c.1445del (p.Phe482fs) rs1578135940
NM_000297.4(PKD2):c.1458C>G (p.Tyr486Ter) rs1135401753
NM_000297.4(PKD2):c.1469A>T (p.Glu490Val) rs1727790126
NM_000297.4(PKD2):c.1480G>T (p.Glu494Ter) rs1727790591
NM_000297.4(PKD2):c.1486C>T (p.Arg496Cys) rs977431912
NM_000297.4(PKD2):c.1492C>T (p.His498Tyr) rs1553926080
NM_000297.4(PKD2):c.1496A>G (p.Lys499Arg) rs1727791483
NM_000297.4(PKD2):c.1532A>T (p.Asp511Val) rs121918043
NM_000297.4(PKD2):c.1548+1G>A rs752024467
NM_000297.4(PKD2):c.1551del (p.Ser518fs) rs776718970
NM_000297.4(PKD2):c.1573A>C (p.Asn525His) rs1720121916
NM_000297.4(PKD2):c.1609C>T (p.Gln537Ter) rs1720124087
NM_000297.4(PKD2):c.1617G>A (p.Leu539=) rs145297759
NM_000297.4(PKD2):c.1623_1626del (p.Asp541fs) rs1560617356
NM_000297.4(PKD2):c.1645dup (p.Glu549fs)
NM_000297.4(PKD2):c.1668dup (p.Gln557fs) rs1578139269
NM_000297.4(PKD2):c.1669C>T (p.Gln557Ter) rs1273223177
NM_000297.4(PKD2):c.1709G>T (p.Trp570Leu) rs1720129428
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.1790T>G (p.Leu597Arg)
NM_000297.4(PKD2):c.1792_1794delinsCCAAA (p.Phe598fs)
NM_000297.4(PKD2):c.1807dup (p.Met603fs) rs1578141765
NM_000297.4(PKD2):c.1810TTC[1] (p.Phe605del) rs1720323681
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter) rs2110127334
NM_000297.4(PKD2):c.1857del (p.Phe619fs) rs1720325511
NM_000297.4(PKD2):c.189C>T (p.Ala63=) rs886059695
NM_000297.4(PKD2):c.1903A>C (p.Thr635Pro) rs2110129485
NM_000297.4(PKD2):c.1904C>G (p.Thr635Ser)
NM_000297.4(PKD2):c.1915A>T (p.Ile639Phe) rs964798879
NM_000297.4(PKD2):c.1934A>G (p.Asn645Ser) rs1720428369
NM_000297.4(PKD2):c.1934_1935delinsT (p.Asn645fs) rs1560621750
NM_000297.4(PKD2):c.1967T>G (p.Leu656Trp) rs138476749
NM_000297.4(PKD2):c.196_199dup (p.Pro67fs) rs1726231891
NM_000297.4(PKD2):c.1979_1982del (p.Tyr660fs) rs2110129645
NM_000297.4(PKD2):c.1988C>T (p.Thr663Ile) rs1720430638
NM_000297.4(PKD2):c.1998_2001del (p.Phe666fs) rs1720431219
NM_000297.4(PKD2):c.2014C>G (p.Leu672Val)
NM_000297.4(PKD2):c.2019+1G>A rs1553927080
NM_000297.4(PKD2):c.2019+1_2019+5del rs1578142941
NM_000297.4(PKD2):c.2019+3A>G rs2110129703
NM_000297.4(PKD2):c.2020-1_2020del rs1553927436
NM_000297.4(PKD2):c.2020-5A>G rs2110133917
NM_000297.4(PKD2):c.203dup (p.Ala69fs) rs1187336837
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.2119-2A>G rs1720752309
NM_000297.4(PKD2):c.2143C>A (p.Leu715Ile) rs943891159
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.2178dup (p.Glu727fs)
NM_000297.4(PKD2):c.2207T>C (p.Leu736Ser) rs868519938
NM_000297.4(PKD2):c.2231A>G (p.Asp744Gly) rs763311767
NM_000297.4(PKD2):c.2240+1G>A 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.2318A>G (p.His773Arg) rs748554287
NM_000297.4(PKD2):c.2351_2354del (p.Lys784fs)
NM_000297.4(PKD2):c.2358+1G>A
NM_000297.4(PKD2):c.2358+5G>A rs1720774022
NM_000297.4(PKD2):c.235C>T (p.Leu79Phe) rs1726235229
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.2444A>G (p.Asp815Gly)
NM_000297.4(PKD2):c.2475_2477del (p.Arg827del)
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+1G>T
NM_000297.4(PKD2):c.2522+1_2522+2del rs1720863460
NM_000297.4(PKD2):c.2524del (p.Leu842fs) rs1553928730
NM_000297.4(PKD2):c.2527del (p.Leu842_Val843insTer) rs1560632930
NM_000297.4(PKD2):c.2534G>C (p.Arg845Pro) rs755031837
NM_000297.4(PKD2):c.2549A>G (p.Glu850Gly) rs1721172803
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.2728C>T (p.Arg910Cys) rs377398357
NM_000297.4(PKD2):c.2744G>A (p.Arg915His) rs755957288
NM_000297.4(PKD2):c.2757T>C (p.Asp919=) rs1199134875
NM_000297.4(PKD2):c.2773A>T (p.Ile925Phe) rs888130252
NM_000297.4(PKD2):c.2803C>T (p.Leu935=) rs957416019
NM_000297.4(PKD2):c.2814del (p.Gln938fs)
NM_000297.4(PKD2):c.2819G>A (p.Arg940His) rs756158263
NM_000297.4(PKD2):c.2844del (p.Ser949fs) rs1721205608
NM_000297.4(PKD2):c.2846C>T (p.Ser949Phe) rs749666891
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup) rs750077647
NM_000297.4(PKD2):c.295G>T (p.Glu99Ter) rs1578111378
NM_000297.4(PKD2):c.306_307insAGG (p.Glu102_Val103insArg) rs398122932
NM_000297.4(PKD2):c.316del (p.Glu106fs)
NM_000297.4(PKD2):c.331G>A (p.Val111Met) rs1726241184
NM_000297.4(PKD2):c.339_358dup (p.Pro120delinsArgTrpThrTer)
NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs) rs1057518797
NM_000297.4(PKD2):c.368G>A (p.Arg123Gln) rs1578111487
NM_000297.4(PKD2):c.386C>G (p.Ser129Trp)
NM_000297.4(PKD2):c.405del (p.Ala136fs) rs1726245372
NM_000297.4(PKD2):c.41del (p.Asp14fs) rs1474473957
NM_000297.4(PKD2):c.481_502del (p.Gly161fs) rs1553923513
NM_000297.4(PKD2):c.544G>C (p.Gly182Arg) rs886059699
NM_000297.4(PKD2):c.567G>A (p.Trp189Ter) rs1163840810
NM_000297.4(PKD2):c.595+1G>C rs1578111778
NM_000297.4(PKD2):c.595+3A>T rs1331405684
NM_000297.4(PKD2):c.595G>A (p.Gly199Ser) rs1726264964
NM_000297.4(PKD2):c.596-12_599del
NM_000297.4(PKD2):c.602G>A (p.Trp201Ter) rs1726673986
NM_000297.4(PKD2):c.640G>T (p.Glu214Ter) rs2110089248
NM_000297.4(PKD2):c.654_655del (p.Ser219fs) rs1578118330
NM_000297.4(PKD2):c.690del (p.Leu231fs)
NM_000297.4(PKD2):c.691dup (p.Leu231fs) rs1553924174
NM_000297.4(PKD2):c.693del (p.Leu231_Ile232insTer) rs1578118371
NM_000297.4(PKD2):c.693dup (p.Ile232fs) rs1560598042
NM_000297.4(PKD2):c.697G>A (p.Val233Ile) rs1726679079
NM_000297.4(PKD2):c.709+1G>A rs398123308
NM_000297.4(PKD2):c.717C>A (p.Tyr239Ter) rs780351760
NM_000297.4(PKD2):c.740A>G (p.Tyr247Cys) rs886059700
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.773T>C (p.Leu258Pro) rs2110104859
NM_000297.4(PKD2):c.776A>C (p.Asp259Ala) rs768028361
NM_000297.4(PKD2):c.781C>T (p.Pro261Ser) rs886059701
NM_000297.4(PKD2):c.783dup (p.Val262fs) rs2110104877
NM_000297.4(PKD2):c.817_818del (p.Leu273fs) rs1057518969
NM_000297.4(PKD2):c.843+1G>A rs1727333593
NM_000297.4(PKD2):c.872T>C (p.Leu291Pro) rs1727414003
NM_000297.4(PKD2):c.908C>G (p.Ala303Gly)
NM_000297.4(PKD2):c.916C>G (p.Arg306Gly) rs200001068
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.982_984del (p.Asn328del) rs1727421192
NM_000297.4(PKD2):c.986del (p.Gly329fs) rs1553925459
NM_000297.4(PKD2):c.999delinsAGA (p.Pro334fs) rs1560608729

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