ClinVar Miner

List of variants in gene PKD1 reported as pathogenic by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Gene type:
ClinVar version:
Total variants: 134
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_001009944.3(PKD1):c.1198C>T (p.Arg400Ter) rs774453006 0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001009944.3(PKD1):c.8017-2_8017-1del rs1567180636 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.9202-16G>A rs1389523126 0.00001
NM_001009944.3(PKD1):c.10008_10009dup (p.Tyr3337fs) rs2544710685
NM_001009944.3(PKD1):c.10087C>T (p.Gln3363Ter) rs2151729320
NM_001009944.3(PKD1):c.10118C>A (p.Ser3373Ter) rs373222937
NM_001009944.3(PKD1):c.10167+25_10167+43del rs1197421698
NM_001009944.3(PKD1):c.10280dup (p.Ser3428fs) rs2151726918
NM_001009944.3(PKD1):c.10423C>T (p.Gln3475Ter) rs2544685880
NM_001009944.3(PKD1):c.10459dup (p.Thr3487fs) rs2151725680
NM_001009944.3(PKD1):c.10573_10594dup (p.Gln3532fs) rs2544654195
NM_001009944.3(PKD1):c.10583G>A (p.Trp3528Ter) rs1057516041
NM_001009944.3(PKD1):c.10618+2T>C rs1555447153
NM_001009944.3(PKD1):c.10724G>A (p.Trp3575Ter) rs1361283193
NM_001009944.3(PKD1):c.10745del (p.Pro3582fs)
NM_001009944.3(PKD1):c.10748del (p.Gly3583fs) rs2151708652
NM_001009944.3(PKD1):c.10766_10767del (p.Leu3589fs)
NM_001009944.3(PKD1):c.10821+1G>A rs1596488823
NM_001009944.3(PKD1):c.11156G>A (p.Arg3719Gln) rs1555446576
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln) rs1555446330
NM_001009944.3(PKD1):c.11277C>A (p.Tyr3759Ter)
NM_001009944.3(PKD1):c.11342ACG[3] (p.Asp3782_Val3783insAsp) rs2091618553
NM_001009944.3(PKD1):c.11512C>T (p.Gln3838Ter) rs199476096
NM_001009944.3(PKD1):c.11538-2A>C rs2544615836
NM_001009944.3(PKD1):c.11567_11568del (p.Arg3856fs) rs2544615278
NM_001009944.3(PKD1):c.11578_11593del (p.Ala3860fs)
NM_001009944.3(PKD1):c.11623del (p.Ala3875fs) rs2151695526
NM_001009944.3(PKD1):c.11693C>A (p.Ser3898Ter) rs2091572700
NM_001009944.3(PKD1):c.11703dup (p.Leu3902fs) rs2544613272
NM_001009944.3(PKD1):c.11773G>T (p.Glu3925Ter) rs1425693814
NM_001009944.3(PKD1):c.11935C>T (p.Gln3979Ter) rs2544597444
NM_001009944.3(PKD1):c.12004-1G>A rs2544594493
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter) rs777269070
NM_001009944.3(PKD1):c.12054_12055del (p.Leu4019fs) rs2544593424
NM_001009944.3(PKD1):c.12057_12061dup (p.Arg4021fs) rs2544593252
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter) rs764431330
NM_001009944.3(PKD1):c.12068dup (p.Pro4024fs) rs2544593076
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter) rs199476094
NM_001009944.3(PKD1):c.12497_12507del (p.Ser4165_Ser4166insTer) rs2544580431
NM_001009944.3(PKD1):c.12596_12612del (p.Val4199fs) rs2544578714
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys) rs1567216536
NM_001009944.3(PKD1):c.12657dup (p.Glu4220fs) rs2151676915
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter) rs1045675831
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter) rs2091391674
NM_001009944.3(PKD1):c.1291C>T (p.Gln431Ter) rs2544876167
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val) rs1060499699
NM_001009944.3(PKD1):c.1385+1G>T rs2544875657
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg) rs58598099
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs) rs1555462438
NM_001009944.3(PKD1):c.1660C>T (p.Gln554Ter) rs2544869877
NM_001009944.3(PKD1):c.1699_1700del (p.Ala568fs) rs2544869651
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.1987C>T (p.Gln663Ter) rs2544860881
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs) rs1567212531
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2289_2299del (p.Cys767fs) rs2092600667
NM_001009944.3(PKD1):c.2552_2553del (p.Ser851fs) rs2544853323
NM_001009944.3(PKD1):c.2968_2969delinsT (p.Ala990fs) rs2544844763
NM_001009944.3(PKD1):c.3381_3387dup (p.Ala1130fs) rs2544831329
NM_001009944.3(PKD1):c.341_345del (p.Asn113_Leu114insTer) rs2544884834
NM_001009944.3(PKD1):c.3753del (p.Val1252fs) rs2544828080
NM_001009944.3(PKD1):c.3812_3813del (p.Thr1271fs) rs2544827572
NM_001009944.3(PKD1):c.3883G>T (p.Glu1295Ter) rs780119305
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs) rs1596560540
NM_001009944.3(PKD1):c.4105dup (p.His1369fs) rs2544824948
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter) rs1596591955
NM_001009944.3(PKD1):c.4258G>T (p.Glu1420Ter) rs1555456139
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) rs1567200516
NM_001009944.3(PKD1):c.4369_4370del (p.Ala1458fs) rs2092481936
NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter) rs1567200117
NM_001009944.3(PKD1):c.4452del (p.Tyr1485fs) rs2092479999
NM_001009944.3(PKD1):c.4617G>A (p.Trp1539Ter) rs2151796950
NM_001009944.3(PKD1):c.4650dup (p.Leu1551fs) rs2092474542
NM_001009944.3(PKD1):c.4712C>A (p.Ser1571Ter)
NM_001009944.3(PKD1):c.4795dup (p.Tyr1599fs) rs2544818419
NM_001009944.3(PKD1):c.4797C>G (p.Tyr1599Ter)
NM_001009944.3(PKD1):c.4825dup (p.Ile1609fs)
NM_001009944.3(PKD1):c.4888C>T (p.Gln1630Ter) rs2544817521
NM_001009944.3(PKD1):c.4906C>T (p.Gln1636Ter) rs1596557266
NM_001009944.3(PKD1):c.4919_4925dup (p.Tyr1643fs) rs2544817124
NM_001009944.3(PKD1):c.5034dup (p.Ser1679fs) rs2544815998
NM_001009944.3(PKD1):c.5159G>A (p.Trp1720Ter) rs2151794620
NM_001009944.3(PKD1):c.5160G>A (p.Trp1720Ter)
NM_001009944.3(PKD1):c.5161del (p.Trp1720_Leu1721insTer) rs2544814541
NM_001009944.3(PKD1):c.5167dup (p.Val1723fs) rs2544814470
NM_001009944.3(PKD1):c.5372del (p.Asn1791fs)
NM_001009944.3(PKD1):c.5744C>A (p.Ser1915Ter) rs760842136
NM_001009944.3(PKD1):c.5776del (p.Ala1926fs) rs2092444151
NM_001009944.3(PKD1):c.5778del (p.Asn1927fs)
NM_001009944.3(PKD1):c.5824del (p.Arg1942fs) rs1567195285
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser) rs2092437527
NM_001009944.3(PKD1):c.6115del (p.Gln2039fs) rs2544805834
NM_001009944.3(PKD1):c.6137del (p.Leu2046fs) rs2092433875
NM_001009944.3(PKD1):c.6288_6289del (p.Phe2096fs) rs2544804049
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del) rs1555454460
NM_001009944.3(PKD1):c.6730_6731del (p.Ser2244fs) rs2151786400
NM_001009944.3(PKD1):c.673_674del (p.Ser225fs) rs2544880396
NM_001009944.3(PKD1):c.6795C>G (p.Tyr2265Ter) rs1312494071
NM_001009944.3(PKD1):c.690C>A (p.Cys230Ter)
NM_001009944.3(PKD1):c.6916-9G>A rs1567190244
NM_001009944.3(PKD1):c.7008C>G (p.Tyr2336Ter) rs2092401442
NM_001009944.3(PKD1):c.706C>T (p.Gln236Ter) rs2544880232
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg) rs1567187445
NM_001009944.3(PKD1):c.7113_7114dup (p.Ser2372fs) rs1567187389
NM_001009944.3(PKD1):c.7139_7145del (p.Glu2380fs) rs2092356759
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter) rs2432403
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.7642G>T (p.Glu2548Ter) rs28369051
NM_001009944.3(PKD1):c.7816C>T (p.Gln2606Ter) rs2092321142
NM_001009944.3(PKD1):c.7833_7835del (p.Tyr2611_Ser2612delinsTer) rs2544775084
NM_001009944.3(PKD1):c.7837_7839del (p.Leu2613del) rs2544775052
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys) rs1452322332
NM_001009944.3(PKD1):c.8045dup (p.Cys2683fs) rs2544758303
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup) rs1596527370
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys) rs2092203712
NM_001009944.3(PKD1):c.8327_8339dup (p.Glu2780fs) rs2544745465
NM_001009944.3(PKD1):c.8363C>A (p.Ser2788Ter)
NM_001009944.3(PKD1):c.8514dup (p.Ile2839fs) rs2544743893
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer) rs1555459108
NM_001009944.3(PKD1):c.8645G>A (p.Trp2882Ter) rs2544742591
NM_001009944.3(PKD1):c.8972dup (p.Tyr2991Ter) rs1567174997
NM_001009944.3(PKD1):c.9051C>A (p.Tyr3017Ter) rs2544733475
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs) rs1567173924
NM_001009944.3(PKD1):c.9298C>T (p.Gln3100Ter) rs1596520985
NM_001009944.3(PKD1):c.9383G>A (p.Trp3128Ter) rs2544729897
NM_001009944.3(PKD1):c.9462_9478del (p.Asp3155fs) rs2544718286
NM_001009944.3(PKD1):c.9683dup (p.Leu3229fs) rs2151740671
NM_001009944.3(PKD1):c.9874del (p.Leu3292fs) rs2544712716
NM_001009944.3(PKD1):c.9965_9966del (p.Thr3322fs) rs2544711045

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