ClinVar Miner

List of variants in gene PKD2 reported as uncertain significance for Polycystic kidney disease 2

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Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917 0.00481
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.*957T>A rs143594425 0.00098
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.1836T>C (p.Ala612=) rs145952917 0.00048
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.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.994T>G (p.Ser332Ala) rs200314088 0.00013
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.*1250A>G rs971004998 0.00008
NM_000297.4(PKD2):c.*744G>A rs886059706 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.*1654T>C rs778483971 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.*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.1148T>C (p.Ile383Thr) rs144431856 0.00001
NM_000297.4(PKD2):c.1151C>A (p.Ala384Glu) rs1408612463 0.00001
NM_000297.4(PKD2):c.1320G>A (p.Arg440=) rs886041114 0.00001
NM_000297.4(PKD2):c.1724A>G (p.Lys575Arg) rs181037821 0.00001
NM_000297.4(PKD2):c.1931T>C (p.Ile644Thr) rs137929700 0.00001
NM_000297.4(PKD2):c.2200G>A (p.Gly734Ser) rs747895445 0.00001
NM_000297.4(PKD2):c.2295T>C (p.Asp765=) rs138982773 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.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.710-10T>G rs1727324181 0.00001
NM_000297.4(PKD2):c.945G>A (p.Leu315=) rs201789789 0.00001
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.1031_1032delinsTA (p.Cys344Leu)
NM_000297.4(PKD2):c.1057G>A (p.Glu353Lys) rs375164861
NM_000297.4(PKD2):c.1114A>G (p.Lys372Glu) rs188394492
NM_000297.4(PKD2):c.1129A>C (p.Ser377Arg)
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.1261G>A (p.Ala421Thr) rs748280556
NM_000297.4(PKD2):c.1261G>T (p.Ala421Ser) rs748280556
NM_000297.4(PKD2):c.1345G>C (p.Gly449Arg) rs1727783547
NM_000297.4(PKD2):c.1469A>T (p.Glu490Val) rs1727790126
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.1573A>C (p.Asn525His) rs1720121916
NM_000297.4(PKD2):c.1709G>T (p.Trp570Leu) rs1720129428
NM_000297.4(PKD2):c.1790T>G (p.Leu597Arg)
NM_000297.4(PKD2):c.1810TTC[1] (p.Phe605del) rs1720323681
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.1967T>G (p.Leu656Trp) rs138476749
NM_000297.4(PKD2):c.1988C>T (p.Thr663Ile) rs1720430638
NM_000297.4(PKD2):c.2014C>G (p.Leu672Val)
NM_000297.4(PKD2):c.2019+3A>G rs2110129703
NM_000297.4(PKD2):c.2020-5A>G rs2110133917
NM_000297.4(PKD2):c.2143C>A (p.Leu715Ile) rs943891159
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.2318A>G (p.His773Arg) rs748554287
NM_000297.4(PKD2):c.2358+5G>A rs1720774022
NM_000297.4(PKD2):c.2444A>G (p.Asp815Gly)
NM_000297.4(PKD2):c.2475_2477del (p.Arg827del)
NM_000297.4(PKD2):c.2522+1G>T
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.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.2819G>A (p.Arg940His) rs756158263
NM_000297.4(PKD2):c.2846C>T (p.Ser949Phe) rs749666891
NM_000297.4(PKD2):c.595+3A>T rs1331405684
NM_000297.4(PKD2):c.595G>A (p.Gly199Ser) rs1726264964
NM_000297.4(PKD2):c.697G>A (p.Val233Ile) rs1726679079
NM_000297.4(PKD2):c.740A>G (p.Tyr247Cys) rs886059700
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.872T>C (p.Leu291Pro) rs1727414003
NM_000297.4(PKD2):c.908C>G (p.Ala303Gly)
NM_000297.4(PKD2):c.916C>G (p.Arg306Gly) rs200001068

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