ClinVar Miner

List of variants in gene PKD1 studied for Polycystic kidney disease, adult type

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Gene type:
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Total variants: 143
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HGVS dbSNP
NC_000016.10:g.2113762_2129489del15728
NC_000016.9:g.2155486_2155487ins2145304_2155487inv
NM_000296.3(PKD1):c.10043G>A (p.Arg3348Gln) rs146494724
NM_000296.3(PKD1):c.11872G>C (p.Ala3958Pro) rs756245085
NM_000296.3(PKD1):c.12028C>T (p.Gln4010Ter) rs1555444985
NM_000296.3(PKD1):c.2109C>T (p.His703=) rs527655141
NM_000296.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_000296.3(PKD1):c.2631_2632insCCCTG (p.Val878Profs) rs1555457807
NM_000296.3(PKD1):c.445delC (p.Gln149Serfs) rs796052133
NM_000296.3(PKD1):c.856_862del (p.Gly287Terfs) rs1555459108
NM_000296.3(PKD1):c.8791+5G>A rs751652400
NM_000296.3(PKD1):c.9494T>C (p.Leu3165Pro) rs1555449597
NM_000296.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204
NM_000296.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099
NM_001009944.2(PKD1):c.10092dup (p.Leu3365Alafs)
NM_001009944.2(PKD1):c.10220+2_10220+3delTG rs1114167366
NM_001009944.2(PKD1):c.1023C>T (p.Ala341=) rs11643513
NM_001009944.2(PKD1):c.10348G>T (p.Glu3450Ter) rs780009030
NM_001009944.2(PKD1):c.10487delT (p.Leu3496Argfs) rs1555448106
NM_001009944.2(PKD1):c.1078_1088delGAGCTCGTGTG (p.Glu360Profs) rs1555459001
NM_001009944.2(PKD1):c.1148C>A (p.Ser383Ter) rs1286585831
NM_001009944.2(PKD1):c.11900_11925del26insAAGCTAGTGA (p.Val3967Glufs) rs886040959
NM_001009944.2(PKD1):c.11916C>T (p.Arg3972=) rs77634115
NM_001009944.2(PKD1):c.11961C>T (p.Ala3987=) rs116236042
NM_001009944.2(PKD1):c.12036G>A (p.Trp4012Ter)
NM_001009944.2(PKD1):c.12124C>T (p.Gln4042Ter) rs199476094
NM_001009944.2(PKD1):c.12133A>G (p.Ile4045Val) rs10960
NM_001009944.2(PKD1):c.12176C>T (p.Ala4059Val) rs3209986
NM_001009944.2(PKD1):c.12217_12221delACCCT (p.Thr4073Valfs)
NM_001009944.2(PKD1):c.12261T>A (p.Cys4087Ter) rs199476097
NM_001009944.2(PKD1):c.12276A>G (p.Ala4092=) rs3087632
NM_001009944.2(PKD1):c.12310_12311delGT (p.Val4104Tyrfs) rs1060499718
NM_001009944.2(PKD1):c.12409C>T (p.Leu4137=) rs79899502
NM_001009944.2(PKD1):c.12420G>A (p.Trp4140Ter) rs199476102
NM_001009944.2(PKD1):c.12425G>T (p.Gly4142Val) rs757407982
NM_001009944.2(PKD1):c.12436G>A (p.Val4146Ile) rs148478410
NM_001009944.2(PKD1):c.12499delA (p.Arg4167Glyfs) rs1555444249
NM_001009944.2(PKD1):c.12630T>C (p.Pro4210=) rs7203729
NM_001009944.2(PKD1):c.12682C>T (p.Arg4228Ter) rs199476095
NM_001009944.2(PKD1):c.127C>G (p.Pro43Ala) rs1114167365
NM_001009944.2(PKD1):c.1281_1283delGGC (p.Ala428del) rs724159824
NM_001009944.2(PKD1):c.1295C>A (p.Ala432Glu) rs1060499699
NM_001009944.2(PKD1):c.1347_1357delTCCCGCCGTGCinsACC (p.Ser449Argfs)
NM_001009944.2(PKD1):c.13_25del (p.Ala5Trpfs) rs1555462463
NM_001009944.2(PKD1):c.1584C>A (p.Tyr528Ter) rs1401015526
NM_001009944.2(PKD1):c.1710C>T (p.His570=) rs367983387
NM_001009944.2(PKD1):c.1714C>T (p.Pro572Ser) rs149022148
NM_001009944.2(PKD1):c.2500G>A (p.Gly834Ser) rs766302578
NM_001009944.2(PKD1):c.2694A>C (p.Ala898=) rs142357713
NM_001009944.2(PKD1):c.2700G>A (p.Pro900=) rs35667726
NM_001009944.2(PKD1):c.2730C>T (p.Asp910=) rs35965348
NM_001009944.2(PKD1):c.2861delG (p.Ser954Thrfs) rs1555457482
NM_001009944.2(PKD1):c.3063T>C (p.Gly1021=) rs2369068
NM_001009944.2(PKD1):c.3071delTinsCCC (p.Val1024Alafs)
NM_001009944.2(PKD1):c.3111A>G (p.Leu1037=) rs2099534
NM_001009944.2(PKD1):c.3133G>C (p.Val1045Leu) rs724159822
NM_001009944.2(PKD1):c.3275T>C (p.Met1092Thr) rs2549677
NM_001009944.2(PKD1):c.3296-1G>A
NM_001009944.2(PKD1):c.3372C>T (p.Ala1124=) rs75510884
NM_001009944.2(PKD1):c.3375C>T (p.Ser1125=) rs74331768
NM_001009944.2(PKD1):c.3415_3423delGTGGCCGGC (p.Val1139_Gly1141del) rs1060499705
NM_001009944.2(PKD1):c.3436T>G (p.Phe1146Val) rs1555456744
NM_001009944.2(PKD1):c.3502C>T (p.Pro1168Ser) rs146887330
NM_001009944.2(PKD1):c.3503dup (p.Val1169Cysfs) rs1555456661
NM_001009944.2(PKD1):c.3543T>A (p.Tyr1181Ter) rs1057516206
NM_001009944.2(PKD1):c.3736G>A (p.Asp1246Asn)
NM_001009944.2(PKD1):c.3850delG (p.Ala1284Profs)
NM_001009944.2(PKD1):c.4015G>A (p.Val1339Met) rs147141131
NM_001009944.2(PKD1):c.404G>A (p.Trp135Ter)
NM_001009944.2(PKD1):c.4051C>T (p.Arg1351Trp) rs55840049
NM_001009944.2(PKD1):c.4631T>G (p.Val1544Gly) rs1555455904
NM_001009944.2(PKD1):c.4709delC (p.Thr1570Serfs) rs1555455797
NM_001009944.2(PKD1):c.488G>T (p.Gly163Val) rs1282205691
NM_001009944.2(PKD1):c.5021delC (p.Pro1674Argfs) rs1555455453
NM_001009944.2(PKD1):c.5366C>G (p.Ser1789Ter)
NM_001009944.2(PKD1):c.5627C>G (p.Ser1876Ter)
NM_001009944.2(PKD1):c.5764C>T (p.Gln1922Ter) rs199476101
NM_001009944.2(PKD1):c.5809delT (p.Ser1937Profs) rs1555454915
NM_001009944.2(PKD1):c.5855dup (p.Lys1953Glnfs) rs1555454886
NM_001009944.2(PKD1):c.5953G>A (p.Ala1985Thr)
NM_001009944.2(PKD1):c.5986G>A (p.Val1996Met) rs1114167373
NM_001009944.2(PKD1):c.6031C>T (p.Gln2011Ter) rs1555454739
NM_001009944.2(PKD1):c.6097G>A (p.Ala2033Thr) rs771364071
NM_001009944.2(PKD1):c.6197T>C (p.Leu2066Pro) rs1555454606
NM_001009944.2(PKD1):c.6299C>A (p.Ser2100Ter) rs539793378
NM_001009944.2(PKD1):c.6424delC (p.Gln2142Argfs) rs1060499702
NM_001009944.2(PKD1):c.6434_6461del (p.Arg2147Profs)
NM_001009944.2(PKD1):c.6746T>A (p.Val2249Glu) rs1555454223
NM_001009944.2(PKD1):c.6806C>G (p.Ser2269Ter)
NM_001009944.2(PKD1):c.6913_6914delCA (p.Gln2305Glufs) rs1555454075
NM_001009944.2(PKD1):c.696T>G (p.Cys232Trp) rs1114167370
NM_001009944.2(PKD1):c.7010C>A (p.Thr2337Asn) rs1060499713
NM_001009944.2(PKD1):c.7226C>T (p.Thr2409Met)
NM_001009944.2(PKD1):c.7268C>A (p.Ser2423Tyr) rs1555453207
NM_001009944.2(PKD1):c.7275C>T (p.Gly2425=) rs115772084
NM_001009944.2(PKD1):c.7288C>T (p.Arg2430Ter)
NM_001009944.2(PKD1):c.7327G>T (p.Gly2443Ter)
NM_001009944.2(PKD1):c.7428C>A (p.Cys2476Ter) rs1453883641
NM_001009944.2(PKD1):c.7861G>T (p.Glu2621Ter) rs762003393
NM_001009944.2(PKD1):c.7925_7926delTA (p.Ile2642Thrfs) rs1555452400
NM_001009944.2(PKD1):c.8161+4C>T rs766547394
NM_001009944.2(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397
NM_001009944.2(PKD1):c.8302G>A (p.Val2768Met) rs1456510041
NM_001009944.2(PKD1):c.8611G>A (p.Ala2871Thr) rs556305338
NM_001009944.2(PKD1):c.8704C>T (p.Gln2902Ter) rs1555450968
NM_001009944.2(PKD1):c.8762A>G (p.His2921Arg) rs1555450920
NM_001009944.2(PKD1):c.8873C>A (p.Ser2958Ter)
NM_001009944.2(PKD1):c.8896G>T (p.Glu2966Ter)
NM_001009944.2(PKD1):c.896_897delCT (p.Pro299Argfs) rs1555459084
NM_001009944.2(PKD1):c.8998dup (p.Arg3000Profs) rs1555450475
NM_001009944.2(PKD1):c.9239C>G (p.Thr3080Arg) rs1322954391
NM_001009944.2(PKD1):c.9296A>T (p.Asp3099Val)
NM_001009944.2(PKD1):c.9330T>C (p.Pro3110=) rs12926160
NM_001009944.2(PKD1):c.9397+3G>C rs1555450109
NM_001009944.2(PKD1):c.9568G>T (p.Gly3190Trp) rs1060499704
NM_001009944.2(PKD1):c.9755_9757delAGC (p.Glu3252_Leu3253delinsVal) rs1057516202
NM_001009944.2(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376
NM_001009944.2(PKD1):c.9867C>A (p.Cys3289Ter) rs1420757773
NM_001009944.2(PKD1):c.9970G>A (p.Ala3324Thr) rs1422578175
NM_001009944.2(PKD1):c.9988_9989insA (p.Ser3330Lysfs) rs796053523
NM_001009944.2:c.12348delG
NM_001009944.2:c.12490delC
NM_001009944.2:c.1633_1635delCTC
NM_001009944.2:c.6567_6568dupGT
NM_001009944.2:c.8499delCinsAAAG
NM_001009944.3(PKD1):c.2540T>C (p.Leu847Pro)
NM_001009944.3(PKD1):c.3482G>A (p.Trp1161Ter)
NM_001009944.3(PKD1):c.4601_4602delGCinsTT (p.Ser1534Ile)
NM_001009944.3(PKD1):c.4830_4834dup (p.Ala1613Serfs)
NM_001009944.3(PKD1):c.5830G>T (p.Gly1944Ter)
NM_001009944.3(PKD1):c.5987T>G (p.Val1996Gly)
NM_001009944.3(PKD1):c.6026C>T (p.Ser2009Leu)
NM_001009944.3(PKD1):c.641G>A (p.Cys214Tyr)
NM_001009944.3(PKD1):c.7034C>T (p.Ala2345Val)
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897
NM_001009944.3(PKD1):c.8381T>C (p.Leu2794Pro)
NM_001009944.3(PKD1):c.8611G>C (p.Ala2871Pro)
NM_001009944.3(PKD1):c.8751_8755del (p.Gly2919Alafs)
NM_001009944.3(PKD1):c.9611A>C (p.Asp3204Ala)
NM_001009944.3(PKD1):c.9934G>A (p.Val3312Met)
PKD1, 2-BP DEL, 5224AG
PKD1, 3-BP DEL, EX20 AND 8-BP DEL, EX21
PKD1, IVSDS, G-C, +1

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