ClinVar Miner

List of variants in gene PKD2 reported as uncertain significance by Invitae

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Gene type:
ClinVar version:
Total variants: 198
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.1459T>C (p.Tyr487His) rs201328200 0.00014
NM_000297.4(PKD2):c.2392C>T (p.Arg798Cys) rs150838063 0.00010
NM_000297.4(PKD2):c.1654G>C (p.Ala552Pro) rs369908107 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.2491T>C (p.Ser831Pro) rs149728995 0.00005
NM_000297.4(PKD2):c.1444T>G (p.Phe482Val) rs201504575 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.2338G>A (p.Asp780Asn) rs773557612 0.00004
NM_000297.4(PKD2):c.2792C>T (p.Thr931Met) rs368926162 0.00004
NM_000297.4(PKD2):c.794C>T (p.Thr265Met) rs569250922 0.00004
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.2555C>G (p.Ser852Cys) rs773003992 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.1151C>A (p.Ala384Glu) rs1408612463 0.00001
NM_000297.4(PKD2):c.1153A>G (p.Thr385Ala) rs1331921848 0.00001
NM_000297.4(PKD2):c.1320G>A (p.Arg440=) rs886041114 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.1931T>C (p.Ile644Thr) rs137929700 0.00001
NM_000297.4(PKD2):c.1985C>T (p.Thr662Ile) rs142983796 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.2428G>A (p.Asp810Asn) rs775470869 0.00001
NM_000297.4(PKD2):c.2449G>A (p.Asp817Asn) rs761597786 0.00001
NM_000297.4(PKD2):c.2486G>A (p.Ser829Asn) rs140589899 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.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.614T>A (p.Leu205His) rs1064796616 0.00001
NM_000297.4(PKD2):c.710-10T>G rs1727324181 0.00001
NM_000297.4(PKD2):c.724A>G (p.Met242Val) rs748163182 0.00001
NM_000297.4(PKD2):c.843+6T>C rs753371816 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.1048G>T (p.Val350Phe)
NM_000297.4(PKD2):c.1057G>A (p.Glu353Lys) rs375164861
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.1172A>G (p.Tyr391Cys)
NM_000297.4(PKD2):c.1219G>A (p.Ala407Thr)
NM_000297.4(PKD2):c.1246G>C (p.Asp416His)
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.1283T>C (p.Val428Ala)
NM_000297.4(PKD2):c.1283T>G (p.Val428Gly)
NM_000297.4(PKD2):c.1291G>A (p.Ala431Thr)
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.1373A>C (p.Gln458Pro)
NM_000297.4(PKD2):c.1396G>T (p.Val466Phe)
NM_000297.4(PKD2):c.1423G>T (p.Ala475Ser)
NM_000297.4(PKD2):c.1460A>G (p.Tyr487Cys)
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.1502A>G (p.His501Arg)
NM_000297.4(PKD2):c.1523A>G (p.Asn508Ser)
NM_000297.4(PKD2):c.1542C>G (p.Ile514Met)
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.1580A>G (p.Tyr527Cys)
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.1646A>G (p.Glu549Gly)
NM_000297.4(PKD2):c.1654G>A (p.Ala552Thr)
NM_000297.4(PKD2):c.1705G>T (p.Val569Phe)
NM_000297.4(PKD2):c.1733A>G (p.Asn578Ser)
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.1808T>C (p.Met603Thr)
NM_000297.4(PKD2):c.1816A>T (p.Ile606Phe) rs755666887
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.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.1988C>T (p.Thr663Ile) rs1720430638
NM_000297.4(PKD2):c.2035A>G (p.Ile679Val)
NM_000297.4(PKD2):c.2042A>G (p.Asn681Ser)
NM_000297.4(PKD2):c.2089G>C (p.Glu697Gln)
NM_000297.4(PKD2):c.2093T>C (p.Met698Thr)
NM_000297.4(PKD2):c.2106T>A (p.Asp702Glu) rs1409281141
NM_000297.4(PKD2):c.2140A>G (p.Lys714Glu)
NM_000297.4(PKD2):c.2154A>C (p.Lys718Asn)
NM_000297.4(PKD2):c.2164G>A (p.Val722Met)
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.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.2246G>A (p.Gly749Asp)
NM_000297.4(PKD2):c.2272A>G (p.Ile758Val)
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.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.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.2416C>T (p.Pro806Ser)
NM_000297.4(PKD2):c.2500G>A (p.Val834Ile)
NM_000297.4(PKD2):c.2509G>A (p.Glu837Lys)
NM_000297.4(PKD2):c.2522+2dup
NM_000297.4(PKD2):c.2523-3C>A
NM_000297.4(PKD2):c.2563A>G (p.Ser855Gly)
NM_000297.4(PKD2):c.2572T>A (p.Ser858Thr)
NM_000297.4(PKD2):c.2602G>A (p.Glu868Lys) rs754032659
NM_000297.4(PKD2):c.2614C>G (p.Arg872Gly) 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.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.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.2773A>T (p.Ile925Phe) rs888130252
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>T (p.Ser949Phe) rs749666891
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+3A>G
NM_000297.4(PKD2):c.595G>A (p.Gly199Ser) rs1726264964
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.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.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.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.814A>G (p.Thr272Ala)
NM_000297.4(PKD2):c.826A>G (p.Met276Val)
NM_000297.4(PKD2):c.843G>A (p.Lys281=) rs1727333486
NM_000297.4(PKD2):c.847A>G (p.Thr283Ala)
NM_000297.4(PKD2):c.856T>A (p.Ser286Thr)
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.917G>A (p.Arg306Gln)
NM_000297.4(PKD2):c.932A>G (p.Tyr311Cys)
NM_000297.4(PKD2):c.965G>T (p.Arg322Leu) rs145877597
NM_000297.4(PKD2):c.997A>G (p.Ile333Val)

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