ClinVar Miner

List of variants in gene PKD2 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.596-16C>T rs62310565 0.01932
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754 0.00985
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917 0.00481
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263 0.00312
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896 0.00176
NM_000297.4(PKD2):c.1830G>A (p.Ala610=) rs144968710 0.00091
NM_000297.4(PKD2):c.784G>A (p.Val262Met) rs138132026 0.00078
NM_000297.4(PKD2):c.1617G>C (p.Leu539=) rs145297759 0.00044
NM_000297.4(PKD2):c.2286C>T (p.Tyr762=) rs555242193 0.00017
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.1959T>C (p.Asn653=) rs371979633 0.00009
NM_000297.4(PKD2):c.2391A>C (p.Pro797=) rs556777891 0.00009
NM_000297.4(PKD2):c.2814A>G (p.Gln938=) rs573469832 0.00008
NM_000297.4(PKD2):c.1549-4T>C rs374450718 0.00007
NM_000297.4(PKD2):c.2388A>G (p.Leu796=) rs535577967 0.00005
NM_000297.4(PKD2):c.1444T>G (p.Phe482Val) rs201504575 0.00004
NM_000297.4(PKD2):c.1869C>G (p.Val623=) rs148228357 0.00003
NM_000297.4(PKD2):c.2586C>T (p.Ala862=) rs373043298 0.00002
NM_000297.4(PKD2):c.1148T>C (p.Ile383Thr) rs144431856 0.00001
NM_000297.4(PKD2):c.1548+9G>C rs376901684 0.00001
NM_000297.4(PKD2):c.2460C>T (p.Ser820=) rs572822238 0.00001
NM_000297.4(PKD2):c.945G>A (p.Leu315=) rs201789789 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln) rs145877597 0.00001
NM_000297.4(PKD2):c.1024A>G (p.Lys342Glu)
NM_000297.4(PKD2):c.1061A>G (p.Asp354Gly) rs1560608801
NM_000297.4(PKD2):c.1071C>A (p.Pro357=)
NM_000297.4(PKD2):c.1172A>G (p.Tyr391Cys)
NM_000297.4(PKD2):c.1276T>G (p.Phe426Val)
NM_000297.4(PKD2):c.1365G>A (p.Trp455Ter) rs1578135870
NM_000297.4(PKD2):c.1508del (p.Phe503fs)
NM_000297.4(PKD2):c.1548_1548+2del
NM_000297.4(PKD2):c.1671_1678del (p.Phe558fs) rs1553926529
NM_000297.4(PKD2):c.1781C>A (p.Ala594Asp)
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter) rs2110127334
NM_000297.4(PKD2):c.1864C>T (p.Gln622Ter)
NM_000297.4(PKD2):c.1899-10A>C
NM_000297.4(PKD2):c.1899-4A>C
NM_000297.4(PKD2):c.1988C>T (p.Thr663Ile) rs1720430638
NM_000297.4(PKD2):c.2019+1G>A rs1553927080
NM_000297.4(PKD2):c.2118+8A>G
NM_000297.4(PKD2):c.2159del (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2163C>T (p.Thr721=)
NM_000297.4(PKD2):c.2210del (p.Asn737fs)
NM_000297.4(PKD2):c.2340C>T (p.Asp780=)
NM_000297.4(PKD2):c.2435_2436del (p.Asp811_Ser812insTer)
NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter) rs757682666
NM_000297.4(PKD2):c.2548dup (p.Glu850fs)
NM_000297.4(PKD2):c.2570T>C (p.Val857Ala)
NM_000297.4(PKD2):c.2600T>C (p.Leu867Pro) rs1578153598
NM_000297.4(PKD2):c.2671-3dup
NM_000297.4(PKD2):c.2770C>T (p.Gln924Ter)
NM_000297.4(PKD2):c.2846C>G (p.Ser949Cys) rs749666891
NM_000297.4(PKD2):c.596-59A>G
NM_000297.4(PKD2):c.763C>T (p.Gln255Ter)
NM_000297.4(PKD2):c.843G>A (p.Lys281=) rs1727333486
NM_000297.4(PKD2):c.844-6T>A
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter) rs749004212
NM_000297.4(PKD2):c.973C>G (p.Arg325Gly)
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln) rs1727420867

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