List of variants in gene PKD1 reported as likely pathogenic for cystic kidney disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 241

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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.9829C>T (p.Arg3277Cys)	rs148812376	0.00032
NM_001009944.3(PKD1):c.3865G>A (p.Val1289Met)	rs541552030	0.00003
NM_001009944.3(PKD1):c.7940C>T (p.Thr2647Met)	rs748496650	0.00002
NM_001009944.3(PKD1):c.11338_11345dup (p.Asp3782fs)	rs2091618729	0.00001
NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser)	rs1163700577	0.00001
NM_001009944.3(PKD1):c.3643C>G (p.Leu1215Val)	rs144338515	0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp)	rs752793757	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.9562A>G (p.Asn3188Asp)	rs1384099162	0.00001
NM_001009944.3(PKD1):c.9986C>T (p.Ser3329Phe)	rs1203304646	0.00001
NC_000016.9:g.2155486_2155487ins2145304_2155487inv
NM_001009944.2(PKD1):c.8017-?_8161+?dup
NM_001009944.3(PKD1):c.10051-1G>T	rs1245329669
NM_001009944.3(PKD1):c.10118C>A (p.Ser3373Ter)
NM_001009944.3(PKD1):c.10167+25_10167+43del	rs1197421698
NM_001009944.3(PKD1):c.10233G>A (p.Trp3411Ter)
NM_001009944.3(PKD1):c.10306C>T (p.Gln3436Ter)	rs2151726823
NM_001009944.3(PKD1):c.10441del (p.Val3481fs)	rs2091884240
NM_001009944.3(PKD1):c.10619-1G>A	rs1567159074
NM_001009944.3(PKD1):c.10694T>G (p.Leu3565Arg)	rs2091727215
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2])	rs777460677
NM_001009944.3(PKD1):c.10810G>A (p.Glu3604Lys)	rs2091722550
NM_001009944.3(PKD1):c.10821+1G>A	rs1596488823
NM_001009944.3(PKD1):c.10822-2A>G	rs2151707926
NM_001009944.3(PKD1):c.10822-3C>G
NM_001009944.3(PKD1):c.10942C>A (p.Pro3648Thr)	rs2091706456
NM_001009944.3(PKD1):c.10946C>G (p.Pro3649Arg)	rs2091706289
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val)	rs1483214870
NM_001009944.3(PKD1):c.11017-10C>A	rs555703777
NM_001009944.3(PKD1):c.11017-25A>C	rs2151704874
NM_001009944.3(PKD1):c.11017-25A>G
NM_001009944.3(PKD1):c.11017-47_11022del	rs2091672168
NM_001009944.3(PKD1):c.11048dup (p.Thr3684fs)	rs1596485991
NM_001009944.3(PKD1):c.11078C>A (p.Ser3693Ter)	rs745912756
NM_001009944.3(PKD1):c.11172G>C (p.Trp3724Cys)	rs866331895
NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg)	rs1555446411
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)	rs1327414405
NM_001009944.3(PKD1):c.11249G>C (p.Arg3750Pro)	rs1327414405
NM_001009944.3(PKD1):c.11249_11263del (p.Arg3750_Leu3754del)	rs1567154953
NM_001009944.3(PKD1):c.11257C>G (p.Arg3753Gly)
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln)	rs1555446330
NM_001009944.3(PKD1):c.11289_11299del (p.Gly3764fs)	rs2151699891
NM_001009944.3(PKD1):c.11294_11313del (p.Pro3765fs)	rs2091620612
NM_001009944.3(PKD1):c.112del (p.Leu38fs)	rs2092941002
NM_001009944.3(PKD1):c.11305_11306del (p.Thr3769fs)	rs1555446053
NM_001009944.3(PKD1):c.1132C>T (p.Gln378Ter)
NM_001009944.3(PKD1):c.11341_11343del (p.Tyr3781del)	rs2091619119
NM_001009944.3(PKD1):c.11342ACG[3] (p.Asp3782_Val3783insAsp)
NM_001009944.3(PKD1):c.11367_11368del (p.His3789fs)	rs2091616873
NM_001009944.3(PKD1):c.11375C>A (p.Ser3792Ter)	rs770667157
NM_001009944.3(PKD1):c.11416T>G (p.Trp3806Gly)	rs2091602155
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser)	rs1303102528
NM_001009944.3(PKD1):c.11452G>T (p.Gly3818Cys)	rs2151698069
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp)	rs1555445740
NM_001009944.3(PKD1):c.11453del (p.Gly3818fs)	rs1567153194
NM_001009944.3(PKD1):c.11467_11480del (p.Leu3823fs)
NM_001009944.3(PKD1):c.11524T>C (p.Trp3842Arg)	rs1057518959
NM_001009944.3(PKD1):c.11530G>C (p.Asp3844His)	rs2151697614
NM_001009944.3(PKD1):c.11537+2T>A	rs2151697557
NM_001009944.3(PKD1):c.1154T>C (p.Leu385Pro)	rs2092665731
NM_001009944.3(PKD1):c.11555T>C (p.Leu3852Pro)	rs2151695909
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs)	rs1555445585
NM_001009944.3(PKD1):c.11565_11571dup (p.Ser3858fs)	rs2091579496
NM_001009944.3(PKD1):c.11633_11660dup (p.Phe3888fs)	rs2151695288
NM_001009944.3(PKD1):c.11657G>C (p.Arg3886Pro)
NM_001009944.3(PKD1):c.11661del (p.Phe3888fs)	rs2151695275
NM_001009944.3(PKD1):c.11741dup (p.Ala3915fs)
NM_001009944.3(PKD1):c.11765_11790dup (p.Leu3931fs)
NM_001009944.3(PKD1):c.12004-2A>C	rs2091475604
NM_001009944.3(PKD1):c.1201+1G>A	rs1596588978
NM_001009944.3(PKD1):c.1202-2A>T	rs2092662592
NM_001009944.3(PKD1):c.12215_12216del (p.Ser4072fs)
NM_001009944.3(PKD1):c.12267del (p.Leu4090fs)
NM_001009944.3(PKD1):c.12326_12335del (p.Arg4109fs)	rs2091440547
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del)	rs1555444468
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu)	rs2091413514
NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs)	rs2091411664
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys)	rs1567216536
NM_001009944.3(PKD1):c.1265T>C (p.Leu422Pro)	rs2092661241
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.12724C>T (p.Gln4242Ter)	rs1181168635
NM_001009944.3(PKD1):c.1294G>A (p.Ala432Thr)	rs2092660647
NM_001009944.3(PKD1):c.1295C>A (p.Ala432Glu)	rs1060499699
NM_001009944.3(PKD1):c.1307G>T (p.Cys436Phe)	rs2092660360
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met)	rs2855341
NM_001009944.3(PKD1):c.1540_1549del (p.Thr514fs)	rs2151820655
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg)	rs1555458704
NM_001009944.3(PKD1):c.1543G>T (p.Gly515Trp)	rs1555458704
NM_001009944.3(PKD1):c.1722+1G>T	rs1567214706
NM_001009944.3(PKD1):c.1722+2T>C	rs886041836
NM_001009944.3(PKD1):c.1723-1G>C	rs1596582948
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp)	rs1555458413
NM_001009944.3(PKD1):c.1991C>T (p.Ala664Val)
NM_001009944.3(PKD1):c.2037del (p.Tyr680fs)
NM_001009944.3(PKD1):c.2078_2089dup (p.Ala696_Gln697insArgProProAla)	rs2092614761
NM_001009944.3(PKD1):c.2095T>C (p.Ser699Pro)
NM_001009944.3(PKD1):c.2097+1G>A	rs2151816064
NM_001009944.3(PKD1):c.215+2T>G
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)	rs1616940
NM_001009944.3(PKD1):c.2534T>A (p.Leu845Ter)	rs199476100
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)	rs199476100
NM_001009944.3(PKD1):c.2667dup (p.Asn890fs)	rs2092593686
NM_001009944.3(PKD1):c.2716G>T (p.Glu906Ter)	rs2151812964
NM_001009944.3(PKD1):c.2720ACGTGGTGG[1] (p.Asp910_Val912del)	rs2092591934
NM_001009944.3(PKD1):c.278T>C (p.Leu93Pro)	rs2151826530
NM_001009944.3(PKD1):c.2861del (p.Ser954fs)	rs1555457482
NM_001009944.3(PKD1):c.2865dup (p.Val956fs)
NM_001009944.3(PKD1):c.2877_2880del (p.Gly960fs)	rs2151809215
NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp)	rs1567208088
NM_001009944.3(PKD1):c.290A>G (p.Asp97Gly)	rs2092684310
NM_001009944.3(PKD1):c.3022_3039del (p.Asn1008_Val1013del)	rs1567207029
NM_001009944.3(PKD1):c.303C>G (p.Asn101Lys)	rs2092684130
NM_001009944.3(PKD1):c.3119CGG[1] (p.Ala1041del)	rs2151806438
NM_001009944.3(PKD1):c.3161+5G>C
NM_001009944.3(PKD1):c.3162-1G>C
NM_001009944.3(PKD1):c.3165G>A (p.Trp1055Ter)
NM_001009944.3(PKD1):c.3218del (p.Glu1073fs)
NM_001009944.3(PKD1):c.3262_3263insT (p.Glu1088fs)	rs1596566156
NM_001009944.3(PKD1):c.3381_3387dup (p.Ala1130fs)
NM_001009944.3(PKD1):c.3401_3404del (p.Ser1134fs)	rs1567204146
NM_001009944.3(PKD1):c.3436T>G (p.Phe1146Val)	rs1555456744
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg)	rs2151801188
NM_001009944.3(PKD1):c.359+2T>G	rs2092683440
NM_001009944.3(PKD1):c.359+3A>T	rs2151826018
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr)	rs1555459345
NM_001009944.3(PKD1):c.3696CGC[1] (p.Ala1234del)	rs2092503169
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del)	rs1567202750
NM_001009944.3(PKD1):c.3746A>C (p.Asp1249Ala)	rs2092501507
NM_001009944.3(PKD1):c.3777_3778del (p.Val1260fs)
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg)	rs1057518976
NM_001009944.3(PKD1):c.3804_3805del (p.Asn1269fs)	rs1596561773
NM_001009944.3(PKD1):c.380T>G (p.Phe127Cys)	rs2092679766
NM_001009944.3(PKD1):c.3890_3891insCAC (p.Leu1297_Arg1298insThr)	rs1567202189
NM_001009944.3(PKD1):c.3984G>C (p.Trp1328Cys)	rs2151799171
NM_001009944.3(PKD1):c.4165_4166del (p.Arg1389fs)	rs1555456208
NM_001009944.3(PKD1):c.417G>C (p.Trp139Cys)
NM_001009944.3(PKD1):c.4241G>C (p.Trp1414Ser)	rs2151798259
NM_001009944.3(PKD1):c.4264del (p.Ala1422fs)
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del)	rs2092482302
NM_001009944.3(PKD1):c.4379T>G (p.Val1460Gly)	rs2151797664
NM_001009944.3(PKD1):c.4507G>A (p.Gly1503Arg)	rs2092478372
NM_001009944.3(PKD1):c.458C>A (p.Ala153Asp)	rs2092678870
NM_001009944.3(PKD1):c.4651del (p.Leu1551fs)
NM_001009944.3(PKD1):c.471_478dup (p.Ser160fs)
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del)	rs1567198691
NM_001009944.3(PKD1):c.4846G>T (p.Glu1616Ter)	rs566014072
NM_001009944.3(PKD1):c.488G>T (p.Gly163Val)	rs1282205691
NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter)	rs1596557065
NM_001009944.3(PKD1):c.4988_4990del (p.Ser1663del)	rs1596556896
NM_001009944.3(PKD1):c.5115del (p.Ser1705fs)
NM_001009944.3(PKD1):c.5478G>A (p.Trp1826Ter)
NM_001009944.3(PKD1):c.5627C>G (p.Ser1876Ter)	rs1567196052
NM_001009944.3(PKD1):c.5693dup (p.Val1899fs)	rs1567195868
NM_001009944.3(PKD1):c.5855dup (p.Lys1953fs)	rs1555454886
NM_001009944.3(PKD1):c.5936_5949del (p.Cys1979fs)
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser)	rs2092437527
NM_001009944.3(PKD1):c.6124G>C (p.Ala2042Pro)	rs556681288
NM_001009944.3(PKD1):c.6197T>C (p.Leu2066Pro)	rs1555454606
NM_001009944.3(PKD1):c.629G>A (p.Cys210Tyr)	rs2092673697
NM_001009944.3(PKD1):c.6341A>G (p.Tyr2114Cys)	rs2092427197
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del)	rs1555454460
NM_001009944.3(PKD1):c.640T>A (p.Cys214Ser)	rs1567218351
NM_001009944.3(PKD1):c.641G>A (p.Cys214Tyr)	rs1596590574
NM_001009944.3(PKD1):c.6420del (p.Val2141fs)
NM_001009944.3(PKD1):c.655C>T (p.Gln219Ter)	rs2092673393
NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del)	rs2151786683
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys)	rs1596550613
NM_001009944.3(PKD1):c.6701T>A (p.Val2234Glu)	rs2092417183
NM_001009944.3(PKD1):c.6813_6814del (p.Arg2272fs)
NM_001009944.3(PKD1):c.6832G>A (p.Gly2278Arg)	rs1555454145
NM_001009944.3(PKD1):c.6916-9G>A	rs1567190244
NM_001009944.3(PKD1):c.694T>C (p.Cys232Arg)	rs2151824152
NM_001009944.3(PKD1):c.696T>G (p.Cys232Trp)	rs1114167370
NM_001009944.3(PKD1):c.6987_6988insATGGCGG (p.Leu2330fs)
NM_001009944.3(PKD1):c.7065+1G>A	rs2151783532
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg)	rs1567187445
NM_001009944.3(PKD1):c.7209_7209+1delinsTT
NM_001009944.3(PKD1):c.7268C>A (p.Ser2423Tyr)	rs1555453207
NM_001009944.3(PKD1):c.7292T>A (p.Leu2431Gln)	rs2092344562
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp)	rs151257298
NM_001009944.3(PKD1):c.7301_7312dup (p.Arg2434_Val2437dup)	rs2092343785
NM_001009944.3(PKD1):c.7303_7317del (p.Arg2435_Arg2439del)	rs2092343570
NM_001009944.3(PKD1):c.7313T>C (p.Leu2438Pro)
NM_001009944.3(PKD1):c.7356_7357insATACACCTTCACGCTCACGGTGCTGGG (p.Gly2452_Arg2453insIleHisLeuHisAlaHisGlyAlaGly)
NM_001009944.3(PKD1):c.7484G>A (p.Cys2495Tyr)
NM_001009944.3(PKD1):c.7489+5G>A	rs2092337963
NM_001009944.3(PKD1):c.7535T>G (p.Leu2512Arg)	rs2151772458
NM_001009944.3(PKD1):c.7567GAG[1] (p.Glu2524del)	rs1555452876
NM_001009944.3(PKD1):c.7638dup (p.Phe2547fs)
NM_001009944.3(PKD1):c.7703G>A (p.Arg2568Lys)	rs2092327300
NM_001009944.3(PKD1):c.7704-1G>A
NM_001009944.3(PKD1):c.7903G>T (p.Glu2635Ter)	rs778979740
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)	rs1452322332
NM_001009944.3(PKD1):c.7957_7958del (p.Leu2653fs)	rs2151766800
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter)	rs757768731
NM_001009944.3(PKD1):c.8005del (p.Ala2669fs)	rs1596536546
NM_001009944.3(PKD1):c.8016+1G>A
NM_001009944.3(PKD1):c.8016+2T>C	rs1596536505
NM_001009944.3(PKD1):c.8022del (p.Ser2675fs)	rs2092263697
NM_001009944.3(PKD1):c.8203_8204del (p.Gln2735fs)	rs1596527744
NM_001009944.3(PKD1):c.8263del (p.Asn2754_Leu2755insTer)	rs2151756041
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del)	rs1596527370
NM_001009944.3(PKD1):c.8287_8289del (p.Leu2763del)	rs1555451280
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys)	rs2092203712
NM_001009944.3(PKD1):c.8299dup (p.Arg2767fs)	rs2151755878
NM_001009944.3(PKD1):c.8302G>T (p.Val2768Leu)	rs1456510041
NM_001009944.3(PKD1):c.8363C>G (p.Ser2788Trp)	rs761060813
NM_001009944.3(PKD1):c.8606_8607del (p.Glu2869fs)
NM_001009944.3(PKD1):c.8762A>G (p.His2921Arg)	rs1555450920
NM_001009944.3(PKD1):c.8909del (p.Gly2970fs)
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs)	rs1555459084
NM_001009944.3(PKD1):c.9047A>G (p.Gln3016Arg)	rs2151750082
NM_001009944.3(PKD1):c.9100GAG[1] (p.Glu3035del)
NM_001009944.3(PKD1):c.9157G>A (p.Ala3053Thr)	rs200360336
NM_001009944.3(PKD1):c.9185T>A (p.Val3062Asp)	rs1057518856
NM_001009944.3(PKD1):c.9202-1G>A	rs2151748829
NM_001009944.3(PKD1):c.9355A>T (p.Lys3119Ter)
NM_001009944.3(PKD1):c.9365T>G (p.Ile3122Ser)	rs2092119998
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met)	rs1555449635
NM_001009944.3(PKD1):c.9411C>G (p.His3137Gln)
NM_001009944.3(PKD1):c.9415G>A (p.Gly3139Ser)	rs1165123201
NM_001009944.3(PKD1):c.9454C>G (p.Arg3152Gly)	rs776866974
NM_001009944.3(PKD1):c.9455_9516dup (p.Pro3173fs)	rs1596514864
NM_001009944.3(PKD1):c.9502_9504del (p.Phe3168del)	rs2092048798
NM_001009944.3(PKD1):c.9513del (p.Thr3172fs)
NM_001009944.3(PKD1):c.9521A>C (p.His3174Pro)	rs769045618
NM_001009944.3(PKD1):c.9543G>C (p.Lys3181Asn)	rs2092047055
NM_001009944.3(PKD1):c.9559G>T (p.Asp3187Tyr)
NM_001009944.3(PKD1):c.9559_9561del (p.Asp3187del)
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del)	rs869312944
NM_001009944.3(PKD1):c.9568G>T (p.Gly3190Trp)	rs1060499704
NM_001009944.3(PKD1):c.9611A>G (p.Asp3204Gly)	rs1596513913
NM_001009944.3(PKD1):c.9755_9757del (p.Glu3252_Leu3253delinsVal)	rs1057516202
NM_001009944.3(PKD1):c.9788G>C (p.Trp3263Ser)	rs1555449378
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del)	rs2092020811
NM_001009944.3(PKD1):c.9924-1G>C	rs2151738493
NM_001009944.3(PKD1):c.[8279T>C;8282G>C8291T>C]

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