ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 178
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln) rs146494724 0.00044
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His) rs748887038 0.00040
NM_001009944.3(PKD1):c.8663G>A (p.Arg2888His) rs200168879 0.00029
NM_001009944.3(PKD1):c.6965C>T (p.Thr2322Met) rs564570407 0.00026
NM_001009944.3(PKD1):c.10939C>T (p.Arg3647Trp) rs181927900 0.00025
NM_001009944.3(PKD1):c.4270A>G (p.Thr1424Ala) rs2239671 0.00024
NM_001009944.3(PKD1):c.776G>A (p.Cys259Tyr) rs529066905 0.00024
NM_001009944.3(PKD1):c.9187C>T (p.Arg3063Cys) rs145906459 0.00023
NM_001009944.3(PKD1):c.7316G>A (p.Arg2439Gln) rs201021499 0.00021
NM_001009944.3(PKD1):c.1117C>G (p.Leu373Val) rs765067070 0.00019
NM_001009944.3(PKD1):c.4008C>A (p.Asn1336Lys) rs770514810 0.00019
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala) rs201409107 0.00018
NM_001009944.3(PKD1):c.5665G>A (p.Gly1889Ser) rs138471993 0.00018
NM_001009944.3(PKD1):c.1967T>A (p.Leu656Gln) rs759950842 0.00016
NM_001009944.3(PKD1):c.5830G>A (p.Gly1944Arg) rs200001471 0.00016
NM_001009944.3(PKD1):c.9451C>T (p.His3151Tyr) rs149872222 0.00016
NM_001009944.3(PKD1):c.7039C>T (p.Arg2347Cys) rs781114712 0.00013
NM_001009944.3(PKD1):c.7918G>T (p.Ala2640Ser) rs768100426 0.00011
NM_001009944.3(PKD1):c.7289G>A (p.Arg2430Gln) rs62038819 0.00010
NM_001009944.3(PKD1):c.12051G>C (p.Lys4017Asn) rs151044657 0.00009
NM_001009944.3(PKD1):c.8611G>A (p.Ala2871Thr) rs556305338 0.00009
NM_001009944.3(PKD1):c.997G>A (p.Val333Met) rs772316684 0.00009
NM_001009944.3(PKD1):c.12089C>T (p.Thr4030Ile) rs751776839 0.00008
NM_001009944.3(PKD1):c.10429C>A (p.Leu3477Ile) rs62621452 0.00006
NM_001009944.3(PKD1):c.1348C>A (p.Pro450Thr) rs757107371 0.00006
NM_001009944.3(PKD1):c.2416G>A (p.Val806Met) rs1219493715 0.00006
NM_001009944.3(PKD1):c.4916G>C (p.Gly1639Ala) rs1178172751 0.00006
NM_001009944.3(PKD1):c.8186C>T (p.Ser2729Leu) rs371541730 0.00006
NM_001009944.3(PKD1):c.8428G>A (p.Glu2810Lys) rs777608163 0.00006
NM_001009944.3(PKD1):c.9820C>T (p.Arg3274Cys) rs531854741 0.00005
NM_001009944.3(PKD1):c.10006G>A (p.Val3336Ile) rs754956606 0.00004
NM_001009944.3(PKD1):c.10933C>T (p.Arg3645Cys) rs765277688 0.00004
NM_001009944.3(PKD1):c.12853A>G (p.Thr4285Ala) rs1341672915 0.00004
NM_001009944.3(PKD1):c.1723-17G>A rs749856740 0.00004
NM_001009944.3(PKD1):c.239G>A (p.Arg80Gln) rs1190107349 0.00004
NM_001009944.3(PKD1):c.5209A>G (p.Thr1737Ala) rs760993331 0.00004
NM_001009944.3(PKD1):c.7100C>T (p.Ser2367Phe) rs771932172 0.00004
NM_001009944.3(PKD1):c.11014C>T (p.Arg3672Trp) rs140389000 0.00003
NM_001009944.3(PKD1):c.12803C>T (p.Pro4268Leu) rs767385060 0.00003
NM_001009944.3(PKD1):c.461C>T (p.Thr154Met) rs1441482246 0.00003
NM_001009944.3(PKD1):c.5173G>A (p.Ala1725Thr) rs779607937 0.00003
NM_001009944.3(PKD1):c.5777C>T (p.Ala1926Val) rs754890213 0.00003
NM_001009944.3(PKD1):c.7456G>A (p.Ala2486Thr) rs567983155 0.00003
NM_001009944.3(PKD1):c.8394C>T (p.Gly2798=) rs760811822 0.00003
NM_001009944.3(PKD1):c.9313C>T (p.Arg3105Trp) rs1376608198 0.00003
NM_001009944.3(PKD1):c.9724C>G (p.Leu3242Val) rs780284563 0.00003
NM_001009944.3(PKD1):c.3736G>A (p.Asp1246Asn) rs553360241 0.00002
NM_001009944.3(PKD1):c.4189G>A (p.Glu1397Lys) rs755462601 0.00002
NM_001009944.3(PKD1):c.6065C>T (p.Ser2022Leu) rs781681199 0.00002
NM_001009944.3(PKD1):c.7479C>G (p.Phe2493Leu) rs752349510 0.00002
NM_001009944.3(PKD1):c.8369C>T (p.Pro2790Leu) rs769345341 0.00002
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp) rs776866974 0.00002
NM_001009944.3(PKD1):c.10163C>G (p.Ala3388Gly) rs780451430 0.00001
NM_001009944.3(PKD1):c.10822-4C>G rs1213585339 0.00001
NM_001009944.3(PKD1):c.11156+5G>A rs781007377 0.00001
NM_001009944.3(PKD1):c.11903G>A (p.Arg3968His) rs1297869565 0.00001
NM_001009944.3(PKD1):c.12441G>A (p.Lys4147=) rs201747031 0.00001
NM_001009944.3(PKD1):c.12697A>C (p.Thr4233Pro) rs1230641065 0.00001
NM_001009944.3(PKD1):c.2993C>T (p.Ala998Val) rs1393997103 0.00001
NM_001009944.3(PKD1):c.4696G>A (p.Val1566Met) rs2575314 0.00001
NM_001009944.3(PKD1):c.5080C>T (p.His1694Tyr) rs374424212 0.00001
NM_001009944.3(PKD1):c.5125G>A (p.Asp1709Asn) rs1199050207 0.00001
NM_001009944.3(PKD1):c.6124G>A (p.Ala2042Thr) rs556681288 0.00001
NM_001009944.3(PKD1):c.6404C>T (p.Ala2135Val) rs368987928 0.00001
NM_001009944.3(PKD1):c.6637C>T (p.Arg2213Trp) rs757222149 0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757 0.00001
NM_001009944.3(PKD1):c.6679C>T (p.His2227Tyr) rs1257476353 0.00001
NM_001009944.3(PKD1):c.6836G>A (p.Ser2279Asn) rs368363458 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.8300G>A (p.Arg2767His) rs770080914 0.00001
NM_001009944.3(PKD1):c.8302G>A (p.Val2768Met) rs1456510041 0.00001
NM_001009944.3(PKD1):c.9815G>A (p.Arg3272His) rs1452116333 0.00001
NM_001009944.3(PKD1):c.9841G>A (p.Ala3281Thr) rs1210319842 0.00001
NM_001009944.3(PKD1):c.1015_1073delinsGT (p.Leu339_Ala358delinsVal)
NM_001009944.3(PKD1):c.10320_10337delinsATGGCC (p.Gln3441_Leu3446delinsTrpPro) rs1555448280
NM_001009944.3(PKD1):c.10574G>T (p.Gly3525Val) rs114523369
NM_001009944.3(PKD1):c.10960C>G (p.Leu3654Val)
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.11258G>C (p.Arg3753Pro) rs1555446330
NM_001009944.3(PKD1):c.11340_11345del (p.Tyr3781_Asp3782del) rs2091618795
NM_001009944.3(PKD1):c.11355G>T (p.Trp3785Cys) rs2091617906
NM_001009944.3(PKD1):c.11412-3C>G rs1567153315
NM_001009944.3(PKD1):c.11496C>G (p.Asp3832Glu)
NM_001009944.3(PKD1):c.11713-3C>G rs754015180
NM_001009944.3(PKD1):c.11743G>C (p.Ala3915Pro) rs1555445237
NM_001009944.3(PKD1):c.11762C>G (p.Thr3921Ser) rs762372063
NM_001009944.3(PKD1):c.11852T>A (p.Val3951Glu) rs1555445164
NM_001009944.3(PKD1):c.1202-3C>A
NM_001009944.3(PKD1):c.12037T>C (p.Ser4013Pro) rs1555444981
NM_001009944.3(PKD1):c.12095G>T (p.Gly4032Val) rs142768096
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del) rs1555444468
NM_001009944.3(PKD1):c.12407G>A (p.Arg4136Lys) rs768391524
NM_001009944.3(PKD1):c.12492C>T (p.Arg4164=) rs536381522
NM_001009944.3(PKD1):c.1256_1258del (p.Cys419del)
NM_001009944.3(PKD1):c.1265TGG[2] (p.Val424del) rs1596588396
NM_001009944.3(PKD1):c.12709T>C (p.Tyr4237His) rs2091392697
NM_001009944.3(PKD1):c.12827G>A (p.Arg4276Gln) rs1188304476
NM_001009944.3(PKD1):c.12888C>G (p.Asn4296Lys) rs777990224
NM_001009944.3(PKD1):c.1306T>C (p.Cys436Arg) rs1555458892
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
NM_001009944.3(PKD1):c.1591G>A (p.Glu531Lys) rs1567215326
NM_001009944.3(PKD1):c.1598A>G (p.Gln533Arg) rs2855342
NM_001009944.3(PKD1):c.1617G>C (p.Gln539His) rs1382845038
NM_001009944.3(PKD1):c.1744C>T (p.Arg582Cys)
NM_001009944.3(PKD1):c.1758A>C (p.Glu586Asp)
NM_001009944.3(PKD1):c.1823A>G (p.Gln608Arg) rs1596582588
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.1894A>G (p.Asn632Asp) rs763213387
NM_001009944.3(PKD1):c.2032G>A (p.Ala678Thr)
NM_001009944.3(PKD1):c.2109C>A (p.His703Gln) rs527655141
NM_001009944.3(PKD1):c.2110G>A (p.Gly704Ser)
NM_001009944.3(PKD1):c.2180T>A (p.Leu727Gln) rs1616940
NM_001009944.3(PKD1):c.2180T>G (p.Leu727Arg) rs1616940
NM_001009944.3(PKD1):c.287+4A>C
NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp) rs1567208088
NM_001009944.3(PKD1):c.2911G>A (p.Asp971Asn)
NM_001009944.3(PKD1):c.3007_3024dup (p.Ser1003_Asn1008dup) rs1555457321
NM_001009944.3(PKD1):c.3022_3039del (p.Asn1008_Val1013del) rs1567207029
NM_001009944.3(PKD1):c.3564C>T (p.His1188=) rs1047922967
NM_001009944.3(PKD1):c.3644T>C (p.Leu1215Pro) rs1555456557
NM_001009944.3(PKD1):c.3685G>A (p.Val1229Met)
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_001009944.3(PKD1):c.3836C>G (p.Pro1279Arg) rs1596561655
NM_001009944.3(PKD1):c.38T>C (p.Leu13Pro) rs2092941758
NM_001009944.3(PKD1):c.405G>T (p.Trp135Cys) rs2092679535
NM_001009944.3(PKD1):c.4072G>C (p.Ala1358Pro) rs1567201469
NM_001009944.3(PKD1):c.4141G>A (p.Gly1381Ser)
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del) rs2092482302
NM_001009944.3(PKD1):c.4379T>C (p.Val1460Ala)
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.5036G>A (p.Ser1679Asn) rs756419129
NM_001009944.3(PKD1):c.5093G>A (p.Arg1698Gln) rs569887918
NM_001009944.3(PKD1):c.5294C>T (p.Pro1765Leu) rs577487876
NM_001009944.3(PKD1):c.5372A>C (p.Asn1791Thr) rs1335408319
NM_001009944.3(PKD1):c.565T>G (p.Ser189Ala) rs1555459201
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu) rs2092438025
NM_001009944.3(PKD1):c.6011_6016dup (p.Tyr2004_Ala2005dup) rs2092436949
NM_001009944.3(PKD1):c.6277C>A (p.His2093Asn)
NM_001009944.3(PKD1):c.6287T>C (p.Phe2096Ser) rs1596552090
NM_001009944.3(PKD1):c.6498C>T (p.Arg2166=)
NM_001009944.3(PKD1):c.6599G>A (p.Arg2200His)
NM_001009944.3(PKD1):c.662T>C (p.Leu221Pro) rs1567218310
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu) rs1567191874
NM_001009944.3(PKD1):c.667G>C (p.Ala223Pro)
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys) rs1596550613
NM_001009944.3(PKD1):c.6827T>C (p.Leu2276Pro) rs1567191044
NM_001009944.3(PKD1):c.689G>C (p.Cys230Ser) rs1255640370
NM_001009944.3(PKD1):c.701C>T (p.Ala234Val)
NM_001009944.3(PKD1):c.7141G>A (p.Val2381Met) rs2092356831
NM_001009944.3(PKD1):c.7169_7171del (p.Glu2390del) rs1555453367
NM_001009944.3(PKD1):c.7170G>A (p.Glu2390=) rs1567187083
NM_001009944.3(PKD1):c.7209+5G>A rs1596543034
NM_001009944.3(PKD1):c.723_725del (p.Phe242del)
NM_001009944.3(PKD1):c.7367AGG[2] (p.Glu2458del) rs1391744174
NM_001009944.3(PKD1):c.7525_7539dup (p.Val2509_Leu2513dup) rs2092331813
NM_001009944.3(PKD1):c.7544G>C (p.Arg2515Pro) rs2432404
NM_001009944.3(PKD1):c.755C>G (p.Pro252Arg) rs771788496
NM_001009944.3(PKD1):c.7625G>A (p.Gly2542Asp)
NM_001009944.3(PKD1):c.7655C>G (p.Ala2552Gly) rs1596539967
NM_001009944.3(PKD1):c.7702A>G (p.Arg2568Gly) rs2092327341
NM_001009944.3(PKD1):c.7714A>G (p.Ile2572Val) rs1555452734
NM_001009944.3(PKD1):c.7949T>G (p.Leu2650Arg) rs2092302943
NM_001009944.3(PKD1):c.8666_8674del (p.Ser2889_Ala2891del) rs771434359
NM_001009944.3(PKD1):c.8672CCAACTCCG[3] (p.2891ANS[3]) rs763199524
NM_001009944.3(PKD1):c.8830G>T (p.Val2944Phe) rs1555450761
NM_001009944.3(PKD1):c.8911G>A (p.Ala2971Thr) rs1555450667
NM_001009944.3(PKD1):c.9011T>C (p.Leu3004Pro) rs2151750242
NM_001009944.3(PKD1):c.9065_9070del (p.Asp3022_Met3023del) rs1555450426
NM_001009944.3(PKD1):c.910C>G (p.Arg304Gly) rs543328728
NM_001009944.3(PKD1):c.9412G>T (p.Val3138Leu) rs1358566538
NM_001009944.3(PKD1):c.9485G>T (p.Arg3162Leu) rs1189208643
NM_001009944.3(PKD1):c.9521A>C (p.His3174Pro) rs769045618
NM_001009944.3(PKD1):c.9674_9700del (p.Ala3225_Glu3233del) rs1555449461
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met) rs775497330
NM_001009944.3(PKD1):c.9910G>A (p.Asp3304Asn)

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