ClinVar Miner

List of variants in gene PKD1 reported as likely benign for Polycystic kidney disease, adult type

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Gene type:
ClinVar version:
Total variants: 201
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.9669G>A (p.Thr3223=) rs144817614 0.01582
NM_001009944.3(PKD1):c.3424C>T (p.Arg1142Trp) rs142202785 0.01272
NM_001009944.3(PKD1):c.8679C>G (p.Ser2893=) rs114143642 0.01226
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387 0.01193
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371 0.01150
NM_001009944.3(PKD1):c.3935G>A (p.Arg1312Gln) rs142129358 0.00924
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=) rs145776888 0.00910
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992 0.00811
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387 0.00775
NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=) rs113369380 0.00705
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043 0.00642
NM_001009944.3(PKD1):c.8161+8G>A rs199569003 0.00559
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_001009944.3(PKD1):c.6545A>G (p.Gln2182Arg) rs147685291 0.00492
NM_001009944.3(PKD1):c.11411+18C>T rs183078730 0.00483
NM_001009944.3(PKD1):c.11934C>T (p.Asp3978=) rs202207855 0.00479
NM_001009944.3(PKD1):c.12198C>T (p.Cys4066=) rs116216040 0.00469
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=) rs62038811 0.00448
NM_001009944.3(PKD1):c.11262G>C (p.Leu3754=) rs139399947 0.00411
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200 0.00389
NM_001009944.3(PKD1):c.10234C>T (p.Pro3412Ser) rs149605181 0.00383
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=) rs141557400 0.00364
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=) rs145955373 0.00349
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp) rs114251396 0.00335
NM_001009944.3(PKD1):c.9111G>A (p.Ser3037=) rs57870377 0.00331
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln) rs140189010 0.00328
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392 0.00324
NM_001009944.3(PKD1):c.6363C>T (p.Arg2121=) rs138648495 0.00324
NM_001009944.3(PKD1):c.3296-15G>A rs201704201 0.00316
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln) rs145217118 0.00290
NM_001009944.3(PKD1):c.8119G>A (p.Val2707Met) rs139507058 0.00267
NM_001009944.3(PKD1):c.3006G>C (p.Val1002=) rs143013095 0.00239
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val) rs141625744 0.00226
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481 0.00222
NM_001009944.3(PKD1):c.3853C>T (p.Arg1285Trp) rs143953714 0.00215
NM_001009944.3(PKD1):c.7863+11C>T rs368629973 0.00214
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg) rs369397443 0.00209
NM_001009944.3(PKD1):c.10406-4C>T rs151095649 0.00198
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=) rs148727945 0.00165
NM_001009944.3(PKD1):c.11538-11C>T rs377692278 0.00139
NM_001009944.3(PKD1):c.9456G>A (p.Arg3152=) rs146745256 0.00137
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=) rs199569478 0.00125
NM_001009944.3(PKD1):c.1281G>A (p.Ala427=) rs141553109 0.00120
NM_001009944.3(PKD1):c.588C>T (p.Ser196=) rs776302294 0.00116
NM_001009944.3(PKD1):c.8161+12C>T rs375283810 0.00113
NM_001009944.3(PKD1):c.739C>T (p.Leu247Phe) rs537409943 0.00110
NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr) rs769369111 0.00109
NM_001009944.3(PKD1):c.10326G>A (p.Ala3442=) rs141138826 0.00094
NM_001009944.3(PKD1):c.2109C>T (p.His703=) rs527655141 0.00093
NM_001009944.3(PKD1):c.5142C>T (p.Phe1714=) rs144663361 0.00092
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val) rs148496347 0.00091
NM_001009944.3(PKD1):c.5811C>G (p.Ser1937=) rs149623670 0.00090
NM_001009944.3(PKD1):c.11965G>A (p.Gly3989Ser) rs200279710 0.00076
NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=) rs201509188 0.00075
NM_001009944.3(PKD1):c.1533C>T (p.Leu511=) rs570750726 0.00073
NM_001009944.3(PKD1):c.9640C>T (p.Leu3214=) rs12102740 0.00073
NM_001009944.3(PKD1):c.8200C>A (p.Pro2734Thr) rs150568356 0.00069
NM_001009944.3(PKD1):c.10080C>T (p.Ala3360=) rs149924232 0.00068
NM_001009944.3(PKD1):c.12768C>T (p.Ala4256=) rs373854628 0.00068
NM_001009944.3(PKD1):c.3369C>T (p.Arg1123=) rs143449093 0.00061
NM_001009944.3(PKD1):c.3444G>A (p.Pro1148=) rs117955701 0.00061
NM_001009944.3(PKD1):c.4856C>T (p.Ser1619Phe) rs146723506 0.00061
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641 0.00059
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile) rs140162759 0.00058
NM_001009944.3(PKD1):c.9713-4C>T rs200434097 0.00058
NM_001009944.3(PKD1):c.12139-5C>T rs146430229 0.00055
NM_001009944.3(PKD1):c.11688C>T (p.Gly3896=) rs547262346 0.00054
NM_001009944.3(PKD1):c.8344G>A (p.Val2782Met) rs151089809 0.00054
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238 0.00053
NM_001009944.3(PKD1):c.6979C>T (p.Arg2327Trp) rs184394342 0.00051
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln) rs375378535 0.00051
NM_001009944.3(PKD1):c.4563T>C (p.Gly1521=) rs143843155 0.00048
NM_001009944.3(PKD1):c.3228G>A (p.Pro1076=) rs2575316 0.00045
NM_001009944.3(PKD1):c.8925C>T (p.Pro2975=) rs148159605 0.00044
NM_001009944.3(PKD1):c.7703+23G>A rs751928868 0.00042
NM_001009944.3(PKD1):c.2193G>T (p.Pro731=) rs768813212 0.00041
NM_001009944.3(PKD1):c.7866C>T (p.Tyr2622=) rs181130940 0.00040
NM_001009944.3(PKD1):c.5577T>C (p.Ala1859=) rs140662778 0.00037
NM_001009944.3(PKD1):c.4810G>A (p.Val1604Met) rs191685707 0.00035
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg) rs201991587 0.00035
NM_001009944.3(PKD1):c.10434C>T (p.Ala3478=) rs373880615 0.00034
NM_001009944.3(PKD1):c.8118C>T (p.Thr2706=) rs375408086 0.00033
NM_001009944.3(PKD1):c.951T>C (p.Ala317=) rs540366995 0.00032
NM_001009944.3(PKD1):c.12270C>G (p.Leu4090=) rs141132307 0.00031
NM_001009944.3(PKD1):c.10221-14C>T rs201207354 0.00029
NM_001009944.3(PKD1):c.4657G>A (p.Val1553Ile) rs200049385 0.00029
NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr) rs374500158 0.00029
NM_001009944.3(PKD1):c.11388C>G (p.Ala3796=) rs149331148 0.00027
NM_001009944.3(PKD1):c.10397C>T (p.Ser3466Leu) rs147464577 0.00026
NM_001009944.3(PKD1):c.11156+36C>T rs369188265 0.00024
NM_001009944.3(PKD1):c.2808C>T (p.Arg936=) rs376075101 0.00023
NM_001009944.3(PKD1):c.8550G>A (p.Ser2850=) rs145648167 0.00023
NM_001009944.3(PKD1):c.10822-8C>G rs9924796 0.00022
NM_001009944.3(PKD1):c.3679G>T (p.Ala1227Ser) rs150710956 0.00022
NM_001009944.3(PKD1):c.8162-12G>A rs375993328 0.00022
NM_001009944.3(PKD1):c.288-20G>A rs572319823 0.00021
NM_001009944.3(PKD1):c.11672G>A (p.Arg3891His) rs950293866 0.00020
NM_001009944.3(PKD1):c.6007G>A (p.Ala2003Thr) rs201599671 0.00020
NM_001009944.3(PKD1):c.6915+19C>T rs371376951 0.00020
NM_001009944.3(PKD1):c.1602C>T (p.Pro534=) rs759092782 0.00019
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His) rs556618384 0.00019
NM_001009944.3(PKD1):c.11412-6C>T rs367775096 0.00018
NM_001009944.3(PKD1):c.5064C>T (p.Leu1688=) rs377662680 0.00018
NM_001009944.3(PKD1):c.8046G>A (p.Ser2682=) rs142391112 0.00017
NM_001009944.3(PKD1):c.3642A>G (p.Gly1214=) rs767721989 0.00016
NM_001009944.3(PKD1):c.4809C>T (p.Ser1603=) rs146103326 0.00016
NM_001009944.3(PKD1):c.543C>T (p.Val181=) rs1365608859 0.00016
NM_001009944.3(PKD1):c.10161C>T (p.His3387=) rs143350197 0.00015
NM_001009944.3(PKD1):c.7683C>T (p.Ala2561=) rs530703053 0.00015
NM_001009944.3(PKD1):c.8100A>G (p.Ala2700=) rs372759889 0.00015
NM_001009944.3(PKD1):c.8176C>T (p.Leu2726=) rs573754849 0.00015
NM_001009944.3(PKD1):c.8750C>T (p.Ala2917Val) rs550768338 0.00015
NM_001009944.3(PKD1):c.8367C>T (p.Asp2789=) rs764827551 0.00014
NM_001009944.3(PKD1):c.10051-29G>A rs763563760 0.00013
NM_001009944.3(PKD1):c.5070C>T (p.Ala1690=) rs183090717 0.00013
NM_001009944.3(PKD1):c.726T>C (p.Phe242=) rs750727364 0.00013
NM_001009944.3(PKD1):c.7848C>T (p.Val2616=) rs143124196 0.00013
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser) rs199947459 0.00012
NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg) rs777024498 0.00012
NM_001009944.3(PKD1):c.1557C>T (p.Thr519=) rs561467860 0.00011
NM_001009944.3(PKD1):c.359+34G>A rs781038728 0.00011
NM_001009944.3(PKD1):c.5661C>T (p.Ile1887=) rs372696163 0.00011
NM_001009944.3(PKD1):c.8712C>T (p.Ser2904=) rs757969966 0.00011
NM_001009944.3(PKD1):c.1704C>T (p.Ala568=) rs990065629 0.00010
NM_001009944.3(PKD1):c.5022G>A (p.Pro1674=) rs772143717 0.00010
NM_001009944.3(PKD1):c.7209+24C>T rs755674171 0.00010
NM_001009944.3(PKD1):c.9022G>A (p.Val3008Met) rs117896488 0.00010
NM_001009944.3(PKD1):c.10168-34G>A rs183682478 0.00009
NM_001009944.3(PKD1):c.10872G>A (p.Pro3624=) rs201417193 0.00009
NM_001009944.3(PKD1):c.5220C>T (p.Ala1740=) rs146915755 0.00009
NM_001009944.3(PKD1):c.8016+7T>C rs746089639 0.00008
NM_001009944.3(PKD1):c.9093G>T (p.Leu3031=) rs1159235832 0.00008
NM_001009944.3(PKD1):c.11577G>T (p.Pro3859=) rs374609310 0.00007
NM_001009944.3(PKD1):c.11713-3C>T rs754015180 0.00007
NM_001009944.3(PKD1):c.1890G>A (p.Pro630=) rs1344519371 0.00007
NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val) rs746910149 0.00007
NM_001009944.3(PKD1):c.8325G>A (p.Thr2775=) rs540387350 0.00006
NM_001009944.3(PKD1):c.8780C>T (p.Thr2927Met) rs544100161 0.00006
NM_001009944.3(PKD1):c.910C>T (p.Arg304Cys) rs543328728 0.00006
NM_001009944.3(PKD1):c.1515C>T (p.Ala505=) rs748123570 0.00005
NM_001009944.3(PKD1):c.4572C>T (p.Thr1524=) rs759043048 0.00005
NM_001009944.3(PKD1):c.7488G>A (p.Thr2496=) rs776604789 0.00005
NM_001009944.3(PKD1):c.9990C>T (p.Ser3330=) rs770635587 0.00005
NM_001009944.3(PKD1):c.10051-6C>T rs749281950 0.00004
NM_001009944.3(PKD1):c.3429C>T (p.Pro1143=) rs377661579 0.00004
NM_001009944.3(PKD1):c.5985C>T (p.Arg1995=) rs556708086 0.00004
NM_001009944.3(PKD1):c.7767C>T (p.His2589=) rs555499745 0.00004
NM_001009944.3(PKD1):c.9573C>G (p.Leu3191=) rs535771951 0.00004
NM_001009944.3(PKD1):c.2986-14G>A rs376382731 0.00003
NM_001009944.3(PKD1):c.3168C>T (p.Thr1056=) rs770188395 0.00003
NM_001009944.3(PKD1):c.4338C>T (p.Thr1446=) rs781761438 0.00003
NM_001009944.3(PKD1):c.7851C>T (p.Thr2617=) rs754620450 0.00003
NM_001009944.3(PKD1):c.12486C>A (p.Pro4162=) rs759210811 0.00002
NM_001009944.3(PKD1):c.747C>T (p.Ser249=) rs568816990 0.00002
NM_001009944.3(PKD1):c.7703+12C>T rs542748732 0.00002
NM_001009944.3(PKD1):c.9713-17C>G rs766238514 0.00002
NM_001009944.3(PKD1):c.10050+10G>C rs746704728 0.00001
NM_001009944.3(PKD1):c.10481C>T (p.Thr3494Met) rs752503970 0.00001
NM_001009944.3(PKD1):c.12004-17A>G rs749829518 0.00001
NM_001009944.3(PKD1):c.12250C>T (p.Pro4084Ser) rs1363663761 0.00001
NM_001009944.3(PKD1):c.2854-7C>T rs1234512813 0.00001
NM_001009944.3(PKD1):c.2985+14G>A rs2432399 0.00001
NM_001009944.3(PKD1):c.4122C>G (p.Ile1374Met) rs757456211 0.00001
NM_001009944.3(PKD1):c.4221G>A (p.Pro1407=) rs776410570 0.00001
NM_001009944.3(PKD1):c.6420C>T (p.Thr2140=) rs1321421286 0.00001
NM_001009944.3(PKD1):c.6517G>A (p.Val2173Ile) rs749619625 0.00001
NM_001009944.3(PKD1):c.10578G>T (p.Leu3526=) rs745763060
NM_001009944.3(PKD1):c.10619-13del rs562614426
NM_001009944.3(PKD1):c.1097C>G (p.Ser366Trp) rs752356523
NM_001009944.3(PKD1):c.11304C>T (p.His3768=) rs1596482936
NM_001009944.3(PKD1):c.11316C>G (p.Ala3772=) rs201085734
NM_001009944.3(PKD1):c.11538-4G>T rs763279854
NM_001009944.3(PKD1):c.11916C>G (p.Arg3972=) rs77634115
NM_001009944.3(PKD1):c.12835C>A (p.Arg4279=) rs375443308
NM_001009944.3(PKD1):c.2239G>A (p.Ala747Thr)
NM_001009944.3(PKD1):c.2279G>T (p.Gly760Val)
NM_001009944.3(PKD1):c.2967G>A (p.Ala989=) rs1324429294
NM_001009944.3(PKD1):c.3101A>G (p.Asn1034Ser) rs28681051
NM_001009944.3(PKD1):c.313A>T (p.Thr105Ser)
NM_001009944.3(PKD1):c.3480G>T (p.Thr1160=) rs151026121
NM_001009944.3(PKD1):c.3599C>G (p.Ala1200Gly)
NM_001009944.3(PKD1):c.4136A>G (p.Glu1379Gly) rs149210297
NM_001009944.3(PKD1):c.4452G>A (p.Pro1484=) rs201988915
NM_001009944.3(PKD1):c.4524C>T (p.Leu1508=) rs144200494
NM_001009944.3(PKD1):c.45G>C (p.Leu15=) rs1208066805
NM_001009944.3(PKD1):c.4684C>T (p.Leu1562=) rs114489044
NM_001009944.3(PKD1):c.5037C>T (p.Ser1679=) rs144091742
NM_001009944.3(PKD1):c.5882C>T (p.Ala1961Val) rs375440448
NM_001009944.3(PKD1):c.603C>G (p.His201Gln) rs13334842
NM_001009944.3(PKD1):c.6219C>T (p.Thr2073=) rs886038370
NM_001009944.3(PKD1):c.6621C>G (p.Pro2207=) rs575553075
NM_001009944.3(PKD1):c.6792A>C (p.Ser2264=) rs142928249
NM_001009944.3(PKD1):c.6915+27A>C rs560681737
NM_001009944.3(PKD1):c.7992C>T (p.Ile2664=) rs537012440
NM_001009944.3(PKD1):c.8161+40G>A rs2092255350
NM_001009944.3(PKD1):c.8204A>T (p.Gln2735Leu) rs141717814
NM_001009944.3(PKD1):c.8267C>T (p.Thr2756Ile)
NM_001009944.3(PKD1):c.8442G>C (p.Gly2814=) rs886038371
NM_001009944.3(PKD1):c.8672CCAACTCCG[3] (p.2891ANS[3]) rs763199524
NM_001009944.3(PKD1):c.9712+40G>A rs2092031694
NM_001009944.3(PKD1):c.9924-9_9924-7del rs892390487

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