ClinVar Miner

List of variants reported as pathogenic for Autosomal dominant polycystic kidney disease by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 60
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HGVS dbSNP gnomAD frequency
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_000004.11:g.(?_88928886)_(88929500_?)del
NC_000004.12:g.(?_88007714)_(88058123_?)del
NC_000004.12:g.(?_88007714)_(88075714_?)del
NC_000004.12:g.(?_88038231)_(88075714_?)del
NM_000297.4(PKD2):c.1018G>T (p.Glu340Ter) rs2110107236
NM_000297.4(PKD2):c.1043_1047del (p.Tyr348fs) rs2475901790
NM_000297.4(PKD2):c.1044C>G (p.Tyr348Ter)
NM_000297.4(PKD2):c.1095-2A>T rs2475915193
NM_000297.4(PKD2):c.1146_1149dup (p.Ala384fs) rs2110112083
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) rs747688660
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) rs2475941897
NM_000297.4(PKD2):c.1767del (p.Met590fs)
NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter) rs1553926905
NM_000297.4(PKD2):c.1864C>T (p.Gln622Ter) rs2475954193
NM_000297.4(PKD2):c.1925del (p.Gly642fs) rs2475959308
NM_000297.4(PKD2):c.2019+1G>A rs1553927080
NM_000297.4(PKD2):c.2020-1_2020del rs1553927436
NM_000297.4(PKD2):c.203del (p.Pro68fs)
NM_000297.4(PKD2):c.203dup (p.Ala69fs) rs1187336837
NM_000297.4(PKD2):c.208G>T (p.Gly70Ter) rs1726233533
NM_000297.4(PKD2):c.2101_2102del (p.Ser701fs) rs1578144898
NM_000297.4(PKD2):c.2159dup (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2236A>T (p.Lys746Ter)
NM_000297.4(PKD2):c.2326C>T (p.Gln776Ter)
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter) rs778235410
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter) rs755226061
NM_000297.4(PKD2):c.282del (p.Phe94fs) rs2476357618
NM_000297.4(PKD2):c.295G>T (p.Glu99Ter) rs1578111378
NM_000297.4(PKD2):c.443del (p.Gly148fs) rs1560592253
NM_000297.4(PKD2):c.443dup (p.His149fs) rs1560592253
NM_000297.4(PKD2):c.473del (p.Glu158fs) rs1578111620
NM_000297.4(PKD2):c.514del (p.Asp172fs) rs1232369409
NM_000297.4(PKD2):c.595+1G>A rs1578111778
NM_000297.4(PKD2):c.595+2T>C rs1018717398
NM_000297.4(PKD2):c.640G>T (p.Glu214Ter) rs2110089248
NM_000297.4(PKD2):c.655_661del (p.Ser219fs) rs2475869382
NM_000297.4(PKD2):c.690del (p.Leu231fs) rs2475869442
NM_000297.4(PKD2):c.73_124dup (p.Ala42fs)
NM_000297.4(PKD2):c.783dup (p.Val262fs) rs2110104877
NM_000297.4(PKD2):c.816del (p.Leu273fs) rs2475896175
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter) rs200001068
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter) rs749004212

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