ClinVar Miner

List of variants in gene PKD2 reported as likely benign for Autosomal dominant polycystic kidney disease

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Gene type:
ClinVar version:
Total variants: 142
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HGVS dbSNP gnomAD frequency
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.2720G>A (p.Arg907Gln) rs150947109 0.00086
NM_000297.4(PKD2):c.1836T>C (p.Ala612=) rs145952917 0.00048
NM_000297.4(PKD2):c.1082G>A (p.Arg361Gln) rs753359659 0.00036
NM_000297.4(PKD2):c.2866G>A (p.Glu956Lys) rs142701912 0.00023
NM_000297.4(PKD2):c.1223G>T (p.Ser408Ile) rs148386297 0.00014
NM_000297.4(PKD2):c.2583C>T (p.Asp861=) rs369520452 0.00014
NM_000297.4(PKD2):c.752G>A (p.Arg251Gln) rs147000344 0.00014
NM_000297.4(PKD2):c.994T>G (p.Ser332Ala) rs200314088 0.00013
NM_000297.4(PKD2):c.1092C>T (p.Thr364=) rs149257723 0.00011
NM_000297.4(PKD2):c.2399T>C (p.Met800Thr) rs376271163 0.00011
NM_000297.4(PKD2):c.733A>C (p.Asn245His) rs200543024 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.2725G>A (p.Val909Ile) rs140848008 0.00009
NM_000297.4(PKD2):c.709+17C>T rs757367196 0.00009
NM_000297.4(PKD2):c.1035T>C (p.Tyr345=) rs113818977 0.00008
NM_000297.4(PKD2):c.1717-7C>T rs201267638 0.00008
NM_000297.4(PKD2):c.1549-4T>C rs374450718 0.00007
NM_000297.4(PKD2):c.2283G>A (p.Lys761=) rs753806545 0.00007
NM_000297.4(PKD2):c.2499C>T (p.Gly833=) rs180709531 0.00007
NM_000297.4(PKD2):c.2240+10A>G rs201679112 0.00006
NM_000297.4(PKD2):c.2388A>G (p.Leu796=) rs535577967 0.00005
NM_000297.4(PKD2):c.1050C>T (p.Val350=) rs767319449 0.00004
NM_000297.4(PKD2):c.1542C>T (p.Ile514=) rs145716012 0.00004
NM_000297.4(PKD2):c.2241-9T>C rs886059702 0.00004
NM_000297.4(PKD2):c.2508C>T (p.Tyr836=) rs757682666 0.00004
NM_000297.4(PKD2):c.2522+16T>C rs202206741 0.00004
NM_000297.4(PKD2):c.2754C>T (p.Ser918=) rs748855749 0.00004
NM_000297.4(PKD2):c.2901C>T (p.His967=) rs757154198 0.00004
NM_000297.4(PKD2):c.1869C>G (p.Val623=) rs148228357 0.00003
NM_000297.4(PKD2):c.2118+19C>T rs777790980 0.00003
NM_000297.4(PKD2):c.2313C>T (p.Thr771=) rs544014723 0.00003
NM_000297.4(PKD2):c.2448C>T (p.Asp816=) rs371289455 0.00002
NM_000297.4(PKD2):c.2586C>T (p.Ala862=) rs373043298 0.00002
NM_000297.4(PKD2):c.1281A>T (p.Ser427=) rs367859449 0.00001
NM_000297.4(PKD2):c.1395T>C (p.Tyr465=) rs1199709583 0.00001
NM_000297.4(PKD2):c.1548+13A>G rs1213173514 0.00001
NM_000297.4(PKD2):c.1902C>T (p.Phe634=) rs368390451 0.00001
NM_000297.4(PKD2):c.1938T>C (p.Phe646=) rs772994340 0.00001
NM_000297.4(PKD2):c.2119-13C>T rs755404719 0.00001
NM_000297.4(PKD2):c.2124C>T (p.Tyr708=) rs772904125 0.00001
NM_000297.4(PKD2):c.2205G>A (p.Lys735=) rs368245083 0.00001
NM_000297.4(PKD2):c.2241-14C>T rs763507546 0.00001
NM_000297.4(PKD2):c.2265T>C (p.Ile755=) rs750408408 0.00001
NM_000297.4(PKD2):c.2592C>T (p.Ile864=) rs1224247739 0.00001
NM_000297.4(PKD2):c.2613G>A (p.Glu871=) rs1458107200 0.00001
NM_000297.4(PKD2):c.2838A>G (p.Pro946=) rs373794310 0.00001
NM_000297.4(PKD2):c.2904A>C (p.Val968=) rs777215141 0.00001
NM_000297.4(PKD2):c.710-11C>A rs764334983 0.00001
NM_000297.4(PKD2):c.717C>T (p.Tyr239=) rs780351760 0.00001
NM_000297.4(PKD2):c.783C>T (p.Pro261=) rs766343471 0.00001
NM_000297.4(PKD2):c.795G>A (p.Thr265=) rs758220304 0.00001
NM_000297.4(PKD2):c.858C>A (p.Ser286=) rs1181336830 0.00001
NM_000297.4(PKD2):c.*235dup rs200938134
NM_000297.4(PKD2):c.1071C>A (p.Pro357=)
NM_000297.4(PKD2):c.1092C>G (p.Thr364=)
NM_000297.4(PKD2):c.1104C>T (p.Tyr368=)
NM_000297.4(PKD2):c.1146C>A (p.Ile382=) rs1351905972
NM_000297.4(PKD2):c.1152A>T (p.Ala384=)
NM_000297.4(PKD2):c.1161T>C (p.Ser387=)
NM_000297.4(PKD2):c.1176T>C (p.Tyr392=)
NM_000297.4(PKD2):c.1257C>T (p.Thr419=)
NM_000297.4(PKD2):c.1278C>T (p.Phe426=)
NM_000297.4(PKD2):c.1284G>A (p.Val428=)
NM_000297.4(PKD2):c.1290C>T (p.Asn430=)
NM_000297.4(PKD2):c.1319+13G>A
NM_000297.4(PKD2):c.1320-15C>G
NM_000297.4(PKD2):c.1320-18G>A
NM_000297.4(PKD2):c.1320-6A>G
NM_000297.4(PKD2):c.1368A>G (p.Gln456=)
NM_000297.4(PKD2):c.1437C>T (p.Ile479=)
NM_000297.4(PKD2):c.1500A>G (p.Leu500=)
NM_000297.4(PKD2):c.1548+10A>G
NM_000297.4(PKD2):c.1549-20A>G
NM_000297.4(PKD2):c.1557G>A (p.Val519=)
NM_000297.4(PKD2):c.1606C>T (p.Leu536=) rs983462333
NM_000297.4(PKD2):c.1617G>A (p.Leu539=) rs145297759
NM_000297.4(PKD2):c.1671G>A (p.Gln557=)
NM_000297.4(PKD2):c.1716+14T>G
NM_000297.4(PKD2):c.1716+18T>C
NM_000297.4(PKD2):c.1717-20A>G
NM_000297.4(PKD2):c.1717-6T>A
NM_000297.4(PKD2):c.1725A>G (p.Lys575=)
NM_000297.4(PKD2):c.1743G>A (p.Arg581=)
NM_000297.4(PKD2):c.1827A>G (p.Leu609=)
NM_000297.4(PKD2):c.1893G>A (p.Glu631=)
NM_000297.4(PKD2):c.1896T>C (p.Cys632=)
NM_000297.4(PKD2):c.1898+11A>G rs768940917
NM_000297.4(PKD2):c.1899-17T>C
NM_000297.4(PKD2):c.1929T>C (p.Asp643=)
NM_000297.4(PKD2):c.1986T>C (p.Thr662=)
NM_000297.4(PKD2):c.2020-19T>C rs776437852
NM_000297.4(PKD2):c.2040C>T (p.Ile680=)
NM_000297.4(PKD2):c.2139C>G (p.Val713=)
NM_000297.4(PKD2):c.2178A>T (p.Ser726=)
NM_000297.4(PKD2):c.2196A>C (p.Gly732=) rs2110138104
NM_000297.4(PKD2):c.2241-12C>T
NM_000297.4(PKD2):c.2241-8A>G
NM_000297.4(PKD2):c.2262G>A (p.Glu754=)
NM_000297.4(PKD2):c.2313C>A (p.Thr771=) rs544014723
NM_000297.4(PKD2):c.2313C>G (p.Thr771=)
NM_000297.4(PKD2):c.2358+8_2358+21del rs747163995
NM_000297.4(PKD2):c.2359-12C>G
NM_000297.4(PKD2):c.2359-20A>G
NM_000297.4(PKD2):c.2359-7del rs1034495207
NM_000297.4(PKD2):c.2359-7dup
NM_000297.4(PKD2):c.2484A>G (p.Gly828=) rs889600957
NM_000297.4(PKD2):c.2522+12G>A
NM_000297.4(PKD2):c.2559C>T (p.Ile853=)
NM_000297.4(PKD2):c.2614C>A (p.Arg872=)
NM_000297.4(PKD2):c.2637G>A (p.Glu879=)
NM_000297.4(PKD2):c.2652G>A (p.Leu884=)
NM_000297.4(PKD2):c.2667C>T (p.Ala889=)
NM_000297.4(PKD2):c.2670+12T>C
NM_000297.4(PKD2):c.2671-14T>A
NM_000297.4(PKD2):c.2703T>C (p.His901=)
NM_000297.4(PKD2):c.2729G>C (p.Arg910Pro) rs144590958
NM_000297.4(PKD2):c.2730T>C (p.Arg910=)
NM_000297.4(PKD2):c.2760T>C (p.Asp920=)
NM_000297.4(PKD2):c.2793G>A (p.Thr931=)
NM_000297.4(PKD2):c.2846C>G (p.Ser949Cys) rs749666891
NM_000297.4(PKD2):c.2850A>G (p.Gln950=)
NM_000297.4(PKD2):c.595+11G>T
NM_000297.4(PKD2):c.595+13G>A
NM_000297.4(PKD2):c.595+16C>T
NM_000297.4(PKD2):c.696A>C (p.Ile232=)
NM_000297.4(PKD2):c.705C>T (p.Cys235=)
NM_000297.4(PKD2):c.709+9A>C
NM_000297.4(PKD2):c.710-7G>A
NM_000297.4(PKD2):c.743A>G (p.Tyr248Cys)
NM_000297.4(PKD2):c.750C>T (p.Thr250=)
NM_000297.4(PKD2):c.780C>T (p.Thr260=)
NM_000297.4(PKD2):c.813A>G (p.Lys271=)
NM_000297.4(PKD2):c.844-19A>G
NM_000297.4(PKD2):c.844-20G>T
NM_000297.4(PKD2):c.844-6T>A
NM_000297.4(PKD2):c.844-7C>A
NM_000297.4(PKD2):c.940C>T (p.Leu314=)
NM_000297.4(PKD2):c.966G>T (p.Arg322=)
NM_000297.4(PKD2):c.972C>T (p.Leu324=)

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