ClinVar Miner

List of variants reported as pathogenic for Autosomal dominant polycystic kidney disease

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ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) rs1578130676 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.1898+5G>A rs1553926929 0.00001
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter) rs121918040 0.00001
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter) rs369678636 0.00001
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter) rs1302726543 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_000004.11:g.(?_88896421)_(88979275_?)del
NC_000004.12:g.(?_88007714)_(88058123_?)del
NC_000004.12:g.(?_88007714)_(88075714_?)del
NC_000004.12:g.(?_88038231)_(88075714_?)del
NC_000016.10:g.2132490_2138215del
NM_000297.4(PKD2):c.1018G>T (p.Glu340Ter) rs2110107236
NM_000297.4(PKD2):c.1043_1047del (p.Tyr348fs)
NM_000297.4(PKD2):c.1095-2A>T
NM_000297.4(PKD2):c.1146_1149dup (p.Ala384fs) rs2110112083
NM_000297.4(PKD2):c.1178_1227dup (p.Lys410fs) rs1727648258
NM_000297.4(PKD2):c.1205del (p.Thr402fs) rs2110112194
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.1365G>A (p.Trp455Ter) rs1578135870
NM_000297.4(PKD2):c.1366C>T (p.Gln456Ter) rs2110115819
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter) rs121918042
NM_000297.4(PKD2):c.1521G>A (p.Trp507Ter)
NM_000297.4(PKD2):c.152del (p.Gly51fs) rs1726229033
NM_000297.4(PKD2):c.1579_1580del (p.Tyr527fs) rs1553926509
NM_000297.4(PKD2):c.1678_1679del (p.Asn560fs)
NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter) rs1553926905
NM_000297.4(PKD2):c.1864C>T (p.Gln622Ter)
NM_000297.4(PKD2):c.1925del (p.Gly642fs)
NM_000297.4(PKD2):c.1985del (p.Thr662fs) rs2110129653
NM_000297.4(PKD2):c.2020-1_2020del rs1553927436
NM_000297.4(PKD2):c.203dup (p.Ala69fs) rs1187336837
NM_000297.4(PKD2):c.208G>T (p.Gly70Ter)
NM_000297.4(PKD2):c.2101_2102del (p.Ser701fs) rs1578144898
NM_000297.4(PKD2):c.2118+1G>C rs1720594399
NM_000297.4(PKD2):c.2125del (p.His709fs) rs2110137964
NM_000297.4(PKD2):c.2159dup (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter) rs778235410
NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter) rs757682666
NM_000297.4(PKD2):c.2524del (p.Leu842fs) rs1553928730
NM_000297.4(PKD2):c.2584del (p.Ala862fs) rs2110150747
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter) rs755226061
NM_000297.4(PKD2):c.282del (p.Phe94fs)
NM_000297.4(PKD2):c.443del (p.Gly148fs) rs1560592253
NM_000297.4(PKD2):c.443dup (p.His149fs)
NM_000297.4(PKD2):c.473del (p.Glu158fs) rs1578111620
NM_000297.4(PKD2):c.514del (p.Asp172fs) rs1232369409
NM_000297.4(PKD2):c.538dup (p.Leu180fs) rs1371793191
NM_000297.4(PKD2):c.556C>T (p.Arg186Ter) rs1726258048
NM_000297.4(PKD2):c.595+1G>A rs1578111778
NM_000297.4(PKD2):c.595+2T>C rs1018717398
NM_000297.4(PKD2):c.605del (p.Gly202fs) rs2110089194
NM_000297.4(PKD2):c.640G>T (p.Glu214Ter) rs2110089248
NM_000297.4(PKD2):c.655_661del (p.Ser219fs)
NM_000297.4(PKD2):c.710-1G>A rs2110104725
NM_000297.4(PKD2):c.783dup (p.Val262fs) rs2110104877
NM_000297.4(PKD2):c.816del (p.Leu273fs)
NM_000297.4(PKD2):c.860T>G (p.Leu287Ter) rs1727413505
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter) rs200001068
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter) rs749004212
NM_001009944.3(PKD1):c.10306C>T (p.Gln3436Ter) rs2151726823
NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter) rs1385274120
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2]) rs777460677
NM_001009944.3(PKD1):c.109del (p.Cys37fs) rs2151858299
NM_001009944.3(PKD1):c.11016+1G>A rs2151707040
NM_001009944.3(PKD1):c.11270-1G>A rs2151700092
NM_001009944.3(PKD1):c.11712+1G>C rs2091571329
NM_001009944.3(PKD1):c.11713-1G>A rs867092741
NM_001009944.3(PKD1):c.1232_1251dup (p.His418fs) rs2092661595
NM_001009944.3(PKD1):c.12725_12735dup (p.Leu4246fs) rs2151675632
NM_001009944.3(PKD1):c.1353dup (p.Val452fs) rs2151822325
NM_001009944.3(PKD1):c.1491dup (p.Gly498fs) rs2092648005
NM_001009944.3(PKD1):c.1583A>G (p.Tyr528Cys) rs750798165
NM_001009944.3(PKD1):c.176_206del (p.Leu59fs) rs2092939869
NM_001009944.3(PKD1):c.2681_2690del (p.Leu893_Phe894insTer) rs2151813077
NM_001009944.3(PKD1):c.2839C>T (p.Gln947Ter) rs763199691
NM_001009944.3(PKD1):c.302del (p.Asn101fs) rs2151826161
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter) rs1238351274
NM_001009944.3(PKD1):c.5065G>T (p.Glu1689Ter) rs534630703
NM_001009944.3(PKD1):c.5679G>A (p.Trp1893Ter) rs2151792059
NM_001009944.3(PKD1):c.5964_5965del (p.Arg1990fs) rs2151790507
NM_001009944.3(PKD1):c.6210del (p.Cys2071fs) rs2151789316
NM_001009944.3(PKD1):c.6391A>C (p.Ser2131Arg) rs2151788244
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.6534C>A (p.Cys2178Ter) rs1054011070
NM_001009944.3(PKD1):c.6555C>A (p.Tyr2185Ter) rs755972713
NM_001009944.3(PKD1):c.6915+1G>A rs2151785467
NM_001009944.3(PKD1):c.7065+2T>G rs2151783529
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter) rs2432403
NM_001009944.3(PKD1):c.7579_7580del (p.Val2527fs) rs2151772170
NM_001009944.3(PKD1):c.7622del (p.Pro2541fs) rs1555452849
NM_001009944.3(PKD1):c.78del (p.Arg28fs) rs2092941432
NM_001009944.3(PKD1):c.8631del (p.Asn2878fs) rs2151754452
NM_001009944.3(PKD1):c.8791+40_10050+3del
NM_001009944.3(PKD1):c.9398-2A>G rs2151742515
NM_001009944.3(PKD1):c.9569-1G>C rs2151741177
NM_001009944.3(PKD1):c.965_984dup (p.Gly329fs) rs2151823406
NM_001009944.3(PKD1):c.9894G>A (p.Trp3298Ter) rs1415277933
NM_198334.3(GANAB):c.11_16del (p.Val4_Ala5del) rs750723025
Single allele

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