ClinVar Miner

List of variants in gene PKD2 reported as uncertain significance for not provided

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Gene type:
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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957 0.00280
NM_000297.4(PKD2):c.1459T>C (p.Tyr487His) rs201328200 0.00014
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.1093G>A (p.Ala365Thr) rs926203174 0.00001
NM_000297.4(PKD2):c.1724A>G (p.Lys575Arg) rs181037821 0.00001
NM_000297.4(PKD2):c.2560G>A (p.Gly854Ser) rs1334898127 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.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.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.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.1548G>A (p.Val516=)
NM_000297.4(PKD2):c.1556T>A (p.Val519Glu)
NM_000297.4(PKD2):c.1641C>A (p.Asn547Lys)
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.1899-6T>G rs398123306
NM_000297.4(PKD2):c.1912C>T (p.Arg638Cys)
NM_000297.4(PKD2):c.2019+5G>A rs1578142944
NM_000297.4(PKD2):c.2019G>T (p.Leu673Phe)
NM_000297.4(PKD2):c.2051_2053del (p.Tyr684del) rs1578144872
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.2291A>T (p.Gln764Leu) rs1553927827
NM_000297.4(PKD2):c.2302C>G (p.Gln768Glu)
NM_000297.4(PKD2):c.2318A>G (p.His773Arg) rs748554287
NM_000297.4(PKD2):c.2461G>A (p.Gly821Arg)
NM_000297.4(PKD2):c.2500G>A (p.Val834Ile)
NM_000297.4(PKD2):c.2627A>G (p.Lys876Arg) rs2110150855
NM_000297.4(PKD2):c.2651T>C (p.Leu884Pro)
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.596-59A>G
NM_000297.4(PKD2):c.709+6T>G rs1726679832
NM_000297.4(PKD2):c.710-10T>C
NM_000297.4(PKD2):c.710-6T>C rs1578129010
NM_000297.4(PKD2):c.773T>C (p.Leu258Pro) rs2110104859
NM_000297.4(PKD2):c.779C>A (p.Thr260Asn)
NM_000297.4(PKD2):c.832G>T (p.Asp278Tyr)
NM_000297.4(PKD2):c.838T>C (p.Trp280Arg) rs2110104970
NM_000297.4(PKD2):c.915C>A (p.Asn305Lys)

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