ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance for not specified

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Gene type:
ClinVar version:
Total variants: 179
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_001009944.3(PKD1):c.11017-3C>T rs185355445 0.00135
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204 0.00125
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238 0.00053
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln) rs146494724 0.00044
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His) rs748887038 0.00036
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg) rs201991587 0.00035
NM_001009944.3(PKD1):c.5648C>T (p.Ala1883Val) rs779745348 0.00026
NM_001009944.3(PKD1):c.6965C>T (p.Thr2322Met) rs564570407 0.00026
NM_001009944.3(PKD1):c.10939C>T (p.Arg3647Trp) rs181927900 0.00024
NM_001009944.3(PKD1):c.776G>A (p.Cys259Tyr) rs529066905 0.00024
NM_001009944.3(PKD1):c.8593C>T (p.Arg2865Trp) rs370251642 0.00024
NM_001009944.3(PKD1):c.4270A>G (p.Thr1424Ala) rs2239671 0.00023
NM_001009944.3(PKD1):c.7316G>A (p.Arg2439Gln) rs201021499 0.00021
NM_001009944.3(PKD1):c.8281C>T (p.Arg2761Cys) rs138256927 0.00021
NM_001009944.3(PKD1):c.11672G>A (p.Arg3891His) rs950293866 0.00020
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala) rs201409107 0.00018
NM_001009944.3(PKD1):c.9740G>A (p.Arg3247His) rs140791671 0.00018
NM_001009944.3(PKD1):c.8009A>G (p.Gln2670Arg) rs749291211 0.00017
NM_001009944.3(PKD1):c.4759C>T (p.Arg1587Cys) rs773407492 0.00016
NM_001009944.3(PKD1):c.7993G>A (p.Ala2665Thr) rs764822533 0.00016
NM_001009944.3(PKD1):c.8237G>A (p.Arg2746Gln) rs1800569 0.00016
NM_001009944.3(PKD1):c.5830G>A (p.Gly1944Arg) rs200001471 0.00015
NM_001009944.3(PKD1):c.2009C>T (p.Thr670Met) rs377136828 0.00014
NM_001009944.3(PKD1):c.10601C>T (p.Ala3534Val) rs550305727 0.00013
NM_001009944.3(PKD1):c.4008C>A (p.Asn1336Lys) rs770514810 0.00013
NM_001009944.3(PKD1):c.4252A>T (p.Thr1418Ser) rs780408550 0.00013
NM_001009944.3(PKD1):c.9067A>G (p.Met3023Val) rs17135779 0.00013
NM_001009944.3(PKD1):c.10315C>T (p.Arg3439Trp) rs374486955 0.00012
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val) rs528213425 0.00012
NM_001009944.3(PKD1):c.2221C>T (p.Pro741Ser) rs753325067 0.00011
NM_001009944.3(PKD1):c.3685G>A (p.Val1229Met) rs142712914 0.00011
NM_001009944.3(PKD1):c.4835C>T (p.Thr1612Met) rs767665300 0.00011
NM_001009944.3(PKD1):c.6185A>T (p.Gln2062Leu) rs201062488 0.00011
NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg) rs777024498 0.00011
NM_001009944.3(PKD1):c.10042C>T (p.Arg3348Trp) rs769208706 0.00010
NM_001009944.3(PKD1):c.10099A>G (p.Ile3367Val) rs773989174 0.00009
NM_001009944.3(PKD1):c.8590G>A (p.Glu2864Lys) rs374629549 0.00009
NM_001009944.3(PKD1):c.4891C>T (p.Leu1631Phe) rs543561238 0.00008
NM_001009944.3(PKD1):c.1202-8G>A rs560799680 0.00007
NM_001009944.3(PKD1):c.8110G>A (p.Ala2704Thr) rs555901411 0.00007
NM_001009944.3(PKD1):c.8305C>T (p.Leu2769Phe) rs771382752 0.00006
NM_001009944.3(PKD1):c.8780C>T (p.Thr2927Met) rs544100161 0.00006
NM_001009944.3(PKD1):c.9620C>T (p.Thr3207Met) rs200214266 0.00006
NM_001009944.3(PKD1):c.12803C>T (p.Pro4268Leu) rs767385060 0.00005
NM_001009944.3(PKD1):c.1348C>A (p.Pro450Thr) rs757107371 0.00005
NM_001009944.3(PKD1):c.4946C>T (p.Thr1649Met) rs761106434 0.00005
NM_001009944.3(PKD1):c.997G>A (p.Val333Met) rs772316684 0.00005
NM_001009944.3(PKD1):c.3159C>T (p.Phe1053=) rs369632433 0.00004
NM_001009944.3(PKD1):c.4028C>T (p.Pro1343Leu) rs138096771 0.00004
NM_001009944.3(PKD1):c.11347G>A (p.Val3783Ile) rs200120839 0.00003
NM_001009944.3(PKD1):c.11813G>A (p.Arg3938Gln) rs944432348 0.00003
NM_001009944.3(PKD1):c.12853A>G (p.Thr4285Ala) rs1341672915 0.00003
NM_001009944.3(PKD1):c.2728G>A (p.Asp910Asn) rs773329559 0.00003
NM_001009944.3(PKD1):c.3295+12G>C rs1397385522 0.00003
NM_001009944.3(PKD1):c.3334G>A (p.Glu1112Lys) rs770755888 0.00003
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val) rs767834829 0.00003
NM_001009944.3(PKD1):c.7741G>A (p.Ala2581Thr) rs773620699 0.00003
NM_001009944.3(PKD1):c.9724C>G (p.Leu3242Val) rs780284563 0.00003
NM_001009944.3(PKD1):c.10303C>T (p.Arg3435Trp) rs562831339 0.00002
NM_001009944.3(PKD1):c.3568C>T (p.Arg1190Cys) rs929457769 0.00002
NM_001009944.3(PKD1):c.3638G>A (p.Arg1213His) rs756174712 0.00002
NM_001009944.3(PKD1):c.503G>C (p.Gly168Ala) rs892397726 0.00002
NM_001009944.3(PKD1):c.5093G>A (p.Arg1698Gln) rs569887918 0.00002
NM_001009944.3(PKD1):c.6065C>T (p.Ser2022Leu) rs781681199 0.00002
NM_001009944.3(PKD1):c.6361C>T (p.Arg2121Cys) rs544427622 0.00002
NM_001009944.3(PKD1):c.8369C>T (p.Pro2790Leu) rs769345341 0.00002
NM_001009944.3(PKD1):c.12161C>T (p.Ser4054Phe) rs767346332 0.00001
NM_001009944.3(PKD1):c.1598A>G (p.Gln533Arg) rs2855342 0.00001
NM_001009944.3(PKD1):c.2200G>A (p.Gly734Ser) rs1311664031 0.00001
NM_001009944.3(PKD1):c.4189G>A (p.Glu1397Lys) rs755462601 0.00001
NM_001009944.3(PKD1):c.461C>T (p.Thr154Met) rs1441482246 0.00001
NM_001009944.3(PKD1):c.4664C>T (p.Ala1555Val) rs758865304 0.00001
NM_001009944.3(PKD1):c.565T>G (p.Ser189Ala) rs1555459201 0.00001
NM_001009944.3(PKD1):c.6124G>A (p.Ala2042Thr) rs556681288 0.00001
NM_001009944.3(PKD1):c.6836G>A (p.Ser2279Asn) rs368363458 0.00001
NM_001009944.3(PKD1):c.6865G>A (p.Gly2289Ser) rs371216568 0.00001
NM_001009944.3(PKD1):c.7946C>T (p.Thr2649Ile) rs1490043027 0.00001
NM_001009944.3(PKD1):c.8246C>T (p.Ala2749Val) rs773014664 0.00001
NM_001009944.3(PKD1):c.9815G>A (p.Arg3272His) rs1452116333 0.00001
NM_001009944.3(PKD1):c.10320_10337delinsATGGCC (p.Gln3441_Leu3446delinsTrpPro) rs1555448280
NM_001009944.3(PKD1):c.11172G>C (p.Trp3724Cys) rs866331895
NM_001009944.3(PKD1):c.11213A>G (p.Asn3738Ser) rs1555446380
NM_001009944.3(PKD1):c.11240C>A (p.Pro3747Gln) rs2151701971
NM_001009944.3(PKD1):c.11243G>C (p.Arg3748Pro) rs546924823
NM_001009944.3(PKD1):c.11353T>C (p.Trp3785Arg)
NM_001009944.3(PKD1):c.11510T>G (p.Leu3837Arg) rs2544619907
NM_001009944.3(PKD1):c.11564C>G (p.Thr3855Arg)
NM_001009944.3(PKD1):c.11606T>C (p.Leu3869Pro) rs1555445569
NM_001009944.3(PKD1):c.11713-3C>G rs754015180
NM_001009944.3(PKD1):c.11743G>C (p.Ala3915Pro) rs1555445237
NM_001009944.3(PKD1):c.11852T>A (p.Val3951Glu) rs1555445164
NM_001009944.3(PKD1):c.12037T>C (p.Ser4013Pro) rs1555444981
NM_001009944.3(PKD1):c.12095G>A (p.Gly4032Asp) rs142768096
NM_001009944.3(PKD1):c.1211C>G (p.Pro404Arg) rs767579073
NM_001009944.3(PKD1):c.12316C>G (p.Leu4106Val) rs765313088
NM_001009944.3(PKD1):c.12407G>A (p.Arg4136Lys) rs768391524
NM_001009944.3(PKD1):c.1253A>C (p.His418Pro)
NM_001009944.3(PKD1):c.12558C>G (p.His4186Gln)
NM_001009944.3(PKD1):c.12643C>T (p.Leu4215Phe) rs757068311
NM_001009944.3(PKD1):c.12827G>A (p.Arg4276Gln) rs1188304476
NM_001009944.3(PKD1):c.1306T>C (p.Cys436Arg) rs1555458892
NM_001009944.3(PKD1):c.1312G>A (p.Ala438Thr)
NM_001009944.3(PKD1):c.1384A>G (p.Arg462Gly) rs1555458865
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
NM_001009944.3(PKD1):c.1606G>A (p.Gly536Ser) rs1555458683
NM_001009944.3(PKD1):c.163G>C (p.Gly55Arg)
NM_001009944.3(PKD1):c.1675C>G (p.Pro559Ala)
NM_001009944.3(PKD1):c.1768A>C (p.Thr590Pro)
NM_001009944.3(PKD1):c.1964C>T (p.Pro655Leu)
NM_001009944.3(PKD1):c.2143G>T (p.Val715Phe) rs1264766449
NM_001009944.3(PKD1):c.2233G>A (p.Ala745Thr) rs995499499
NM_001009944.3(PKD1):c.2854-11del
NM_001009944.3(PKD1):c.2902A>G (p.Thr968Ala) rs1555457457
NM_001009944.3(PKD1):c.2942T>C (p.Val981Ala) rs1555457440
NM_001009944.3(PKD1):c.2985+6_2985+52del
NM_001009944.3(PKD1):c.29_46del (p.Ala10_Leu15del) rs2544960670
NM_001009944.3(PKD1):c.3007_3024dup (p.Ser1003_Asn1008dup) rs1555457321
NM_001009944.3(PKD1):c.302A>G (p.Asn101Ser)
NM_001009944.3(PKD1):c.303C>A (p.Asn101Lys) rs2092684130
NM_001009944.3(PKD1):c.303C>G (p.Asn101Lys) rs2092684130
NM_001009944.3(PKD1):c.3077C>T (p.Thr1026Ile)
NM_001009944.3(PKD1):c.3479C>T (p.Thr1160Met)
NM_001009944.3(PKD1):c.3483G>T (p.Trp1161Cys) rs1483748105
NM_001009944.3(PKD1):c.3554G>T (p.Gly1185Val)
NM_001009944.3(PKD1):c.359+2dup
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr) rs1555459345
NM_001009944.3(PKD1):c.3644T>C (p.Leu1215Pro) rs1555456557
NM_001009944.3(PKD1):c.3727T>G (p.Trp1243Gly) rs2151800134
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_001009944.3(PKD1):c.4081C>G (p.Leu1361Val)
NM_001009944.3(PKD1):c.4115_4117del (p.Thr1372del)
NM_001009944.3(PKD1):c.4195_4196inv (p.Trp1399Gln)
NM_001009944.3(PKD1):c.4217C>T (p.Pro1406Leu) rs1258742494
NM_001009944.3(PKD1):c.4550A>G (p.Tyr1517Cys)
NM_001009944.3(PKD1):c.4720G>A (p.Ala1574Thr) rs767157522
NM_001009944.3(PKD1):c.4729G>A (p.Asp1577Asn) rs770989260
NM_001009944.3(PKD1):c.4766C>T (p.Thr1589Met)
NM_001009944.3(PKD1):c.4979C>G (p.Thr1660Ser) rs1163036590
NM_001009944.3(PKD1):c.5014A>G (p.Arg1672Gly)
NM_001009944.3(PKD1):c.5021C>T (p.Pro1674Leu)
NM_001009944.3(PKD1):c.5036G>A (p.Ser1679Asn) rs756419129
NM_001009944.3(PKD1):c.5093G>C (p.Arg1698Pro) rs569887918
NM_001009944.3(PKD1):c.509C>G (p.Pro170Arg)
NM_001009944.3(PKD1):c.5150C>T (p.Pro1717Leu)
NM_001009944.3(PKD1):c.5270G>A (p.Gly1757Glu) rs770462764
NM_001009944.3(PKD1):c.5305C>T (p.His1769Tyr)
NM_001009944.3(PKD1):c.5323G>A (p.Gly1775Ser)
NM_001009944.3(PKD1):c.5803C>T (p.Arg1935Cys) rs776113903
NM_001009944.3(PKD1):c.5833G>C (p.Asp1945His)
NM_001009944.3(PKD1):c.5848G>A (p.Val1950Met) rs771669643
NM_001009944.3(PKD1):c.6016T>C (p.Trp2006Arg)
NM_001009944.3(PKD1):c.6017G>C (p.Trp2006Ser) rs2544806706
NM_001009944.3(PKD1):c.6068G>T (p.Gly2023Val)
NM_001009944.3(PKD1):c.6148A>G (p.Asn2050Asp) rs1302127440
NM_001009944.3(PKD1):c.641G>C (p.Cys214Ser) rs1596590574
NM_001009944.3(PKD1):c.6499A>G (p.Asn2167Asp) rs2151787670
NM_001009944.3(PKD1):c.7145G>T (p.Ser2382Ile) rs1555453383
NM_001009944.3(PKD1):c.7169_7171del (p.Glu2390del) rs1555453367
NM_001009944.3(PKD1):c.717T>A (p.Ser239Arg)
NM_001009944.3(PKD1):c.728C>G (p.Ala243Gly)
NM_001009944.3(PKD1):c.7544G>A (p.Arg2515Gln)
NM_001009944.3(PKD1):c.755C>G (p.Pro252Arg) rs771788496
NM_001009944.3(PKD1):c.7714A>G (p.Ile2572Val) rs1555452734
NM_001009944.3(PKD1):c.8016+3_8016+7del
NM_001009944.3(PKD1):c.8086C>T (p.Leu2696Phe) rs143923681
NM_001009944.3(PKD1):c.8138G>A (p.Gly2713Glu) rs1395231369
NM_001009944.3(PKD1):c.8162-13C>G rs766749006
NM_001009944.3(PKD1):c.8777A>G (p.Tyr2926Cys) rs1229120097
NM_001009944.3(PKD1):c.8791+5G>C rs751652400
NM_001009944.3(PKD1):c.8911G>A (p.Ala2971Thr) rs1555450667
NM_001009944.3(PKD1):c.8948+15C>T rs778271516
NM_001009944.3(PKD1):c.9065_9070del (p.Asp3022_Met3023del) rs1555450426
NM_001009944.3(PKD1):c.9157G>A (p.Ala3053Thr) rs200360336
NM_001009944.3(PKD1):c.9388C>T (p.Arg3130Trp)
NM_001009944.3(PKD1):c.9452A>C (p.His3151Pro)
NM_001009944.3(PKD1):c.9634_9635delinsGC (p.Phe3212Ala) rs1085307551
NM_001009944.3(PKD1):c.9674_9700del (p.Ala3225_Glu3233del) rs1555449461
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met) rs775497330

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