ClinVar Miner

List of variants in gene PKD1 reported as likely pathogenic by Fulgent Genetics, Fulgent Genetics

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Gene type:
ClinVar version:
Total variants: 219
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.6070C>T (p.Arg2024Cys) rs199943712 0.00005
NM_001009944.3(PKD1):c.11338_11345dup (p.Asp3782fs) rs2091618729 0.00001
NM_001009944.3(PKD1):c.3494A>G (p.Asp1165Gly) rs751293870 0.00001
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met) rs1367567191 0.00001
NM_001009944.3(PKD1):c.9202-16G>A rs1389523126 0.00001
NM_001009944.3(PKD1):c.9412G>A (p.Val3138Met) rs1358566538 0.00001
NM_001009944.3(PKD1):c.9562A>G (p.Asn3188Asp) rs1384099162 0.00001
NM_001009944.3(PKD1):c.10051-2A>G
NM_001009944.3(PKD1):c.10220+1G>C
NM_001009944.3(PKD1):c.10405G>A (p.Asp3469Asn)
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2]) rs777460677
NM_001009944.3(PKD1):c.10698GGCTGT[4] (p.3567AV[4]) rs777460677
NM_001009944.3(PKD1):c.10796C>T (p.Ser3599Leu) rs2544650057
NM_001009944.3(PKD1):c.10804G>C (p.Gly3602Arg)
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val) rs1483214870
NM_001009944.3(PKD1):c.10960C>G (p.Leu3654Val) rs2544646868
NM_001009944.3(PKD1):c.11016+1G>C
NM_001009944.3(PKD1):c.11017-10C>A rs555703777
NM_001009944.3(PKD1):c.11017-1G>C
NM_001009944.3(PKD1):c.11122_11156+1del
NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg) rs1555446411
NM_001009944.3(PKD1):c.11243G>C (p.Arg3748Pro) rs546924823
NM_001009944.3(PKD1):c.11270-1G>T
NM_001009944.3(PKD1):c.11308_11312dup (p.Ala3773fs)
NM_001009944.3(PKD1):c.11340_11345del (p.Tyr3781_Asp3782del) rs2091618795
NM_001009944.3(PKD1):c.11390A>G (p.Tyr3797Cys) rs138629093
NM_001009944.3(PKD1):c.11411+1G>T
NM_001009944.3(PKD1):c.11411+2T>C
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.11537+2T>A rs2151697557
NM_001009944.3(PKD1):c.11555T>C (p.Leu3852Pro) rs2151695909
NM_001009944.3(PKD1):c.11595_11605dup (p.Leu3869fs)
NM_001009944.3(PKD1):c.11606T>G (p.Leu3869Arg) rs1555445569
NM_001009944.3(PKD1):c.11614G>C (p.Glu3872Gln) rs2091577195
NM_001009944.3(PKD1):c.116G>A (p.Cys39Tyr) rs2151858290
NM_001009944.3(PKD1):c.11711C>G (p.Ser3904Trp) rs2091571469
NM_001009944.3(PKD1):c.11713-1G>T
NM_001009944.3(PKD1):c.11713-2A>T
NM_001009944.3(PKD1):c.11713-2_11718dup
NM_001009944.3(PKD1):c.11860G>C (p.Ala3954Pro) rs1424496188
NM_001009944.3(PKD1):c.11962dup (p.Arg3988fs)
NM_001009944.3(PKD1):c.11987_11988insA (p.Phe3996fs)
NM_001009944.3(PKD1):c.12003+1G>C
NM_001009944.3(PKD1):c.12004-2A>C rs2091475604
NM_001009944.3(PKD1):c.1202-11C>G
NM_001009944.3(PKD1):c.12162_12165del (p.Leu4055fs)
NM_001009944.3(PKD1):c.12246_12247del (p.Ser4083fs)
NM_001009944.3(PKD1):c.12332_12336del (p.His4111fs)
NM_001009944.3(PKD1):c.12357del (p.Pro4120fs)
NM_001009944.3(PKD1):c.12393GTT[1] (p.Leu4132del)
NM_001009944.3(PKD1):c.12449G>A (p.Arg4150His) rs36221080
NM_001009944.3(PKD1):c.12463T>C (p.Phe4155Leu)
NM_001009944.3(PKD1):c.12475G>T (p.Glu4159Ter)
NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs) rs2091411664
NM_001009944.3(PKD1):c.12514del (p.Ser4172fs) rs1555444225
NM_001009944.3(PKD1):c.12624_12625dup (p.Glu4209fs)
NM_001009944.3(PKD1):c.12657_12658delinsAT (p.Phe4219_Glu4220delinsLeuTer)
NM_001009944.3(PKD1):c.12683G>C (p.Arg4228Pro) rs1064797205
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>T (p.Ala432Val) rs1060499699
NM_001009944.3(PKD1):c.1391T>C (p.Leu464Pro)
NM_001009944.3(PKD1):c.1396G>C (p.Val466Leu)
NM_001009944.3(PKD1):c.1488delinsTC (p.Gly498fs)
NM_001009944.3(PKD1):c.1529G>C (p.Arg510Pro) rs1293305047
NM_001009944.3(PKD1):c.1540_1549del (p.Thr514fs) rs2151820655
NM_001009944.3(PKD1):c.1722+2T>C rs886041836
NM_001009944.3(PKD1):c.1991C>T (p.Ala664Val) rs781018494
NM_001009944.3(PKD1):c.2038del (p.Tyr680fs) rs1448641464
NM_001009944.3(PKD1):c.2081_2085dup (p.Ala696fs)
NM_001009944.3(PKD1):c.2097+1G>A rs2151816064
NM_001009944.3(PKD1):c.215+5G>A
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.224C>T (p.Ser75Phe)
NM_001009944.3(PKD1):c.230A>G (p.Asn77Ser) rs2092686792
NM_001009944.3(PKD1):c.2427_2428del (p.His809fs)
NM_001009944.3(PKD1):c.2543A>C (p.Gln848Pro)
NM_001009944.3(PKD1):c.2716G>T (p.Glu906Ter) rs2151812964
NM_001009944.3(PKD1):c.2729_2730del (p.Asp910fs)
NM_001009944.3(PKD1):c.2730_2741del (p.Asp910_Val913del)
NM_001009944.3(PKD1):c.297CAA[2] (p.Asn101del) rs2544885084
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.305_307del (p.Lys102del) rs1567219527
NM_001009944.3(PKD1):c.3119CGG[1] (p.Ala1041del) rs2151806438
NM_001009944.3(PKD1):c.3161+1G>T
NM_001009944.3(PKD1):c.3162-1G>C rs2544837759
NM_001009944.3(PKD1):c.3170T>C (p.Phe1057Ser) rs2151804604
NM_001009944.3(PKD1):c.3284A>G (p.Tyr1095Cys)
NM_001009944.3(PKD1):c.3295+1G>A
NM_001009944.3(PKD1):c.3296-4_3304del rs2544832042
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del) rs1320867301
NM_001009944.3(PKD1):c.3466_3467dup (p.Leu1158fs)
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg) rs2151801188
NM_001009944.3(PKD1):c.3542A>G (p.Tyr1181Cys) rs1458516705
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr) rs1555459345
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.3741G>C (p.Met1247Ile)
NM_001009944.3(PKD1):c.385T>C (p.Cys129Arg)
NM_001009944.3(PKD1):c.3860T>C (p.Leu1287Pro) rs2544827223
NM_001009944.3(PKD1):c.3865dup (p.Val1289fs)
NM_001009944.3(PKD1):c.3982T>C (p.Trp1328Arg)
NM_001009944.3(PKD1):c.4070T>C (p.Leu1357Pro) rs2151798827
NM_001009944.3(PKD1):c.4234T>G (p.Tyr1412Asp)
NM_001009944.3(PKD1):c.4296_4298del (p.Phe1433del)
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del) rs2092482302
NM_001009944.3(PKD1):c.4462T>C (p.Ser1488Pro) rs773746552
NM_001009944.3(PKD1):c.4550A>G (p.Tyr1517Cys)
NM_001009944.3(PKD1):c.4630G>A (p.Val1544Met) rs2544820023
NM_001009944.3(PKD1):c.4696_4701del (p.Val1566_Ser1567del)
NM_001009944.3(PKD1):c.4746G>T (p.Trp1582Cys)
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del) rs1567198691
NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter) rs1596557065
NM_001009944.3(PKD1):c.4981_4983del (p.Asn1661del)
NM_001009944.3(PKD1):c.5130_5146dup (p.Glu1716fs)
NM_001009944.3(PKD1):c.529+1G>A
NM_001009944.3(PKD1):c.529+3G>C
NM_001009944.3(PKD1):c.5494G>A (p.Gly1832Ser) rs2151792963
NM_001009944.3(PKD1):c.5495G>T (p.Gly1832Val) rs2544812034
NM_001009944.3(PKD1):c.5515T>A (p.Trp1839Arg)
NM_001009944.3(PKD1):c.5515T>C (p.Trp1839Arg)
NM_001009944.3(PKD1):c.5608A>C (p.Asn1870His)
NM_001009944.3(PKD1):c.5609A>G (p.Asn1870Ser) rs2544811132
NM_001009944.3(PKD1):c.5609A>T (p.Asn1870Ile)
NM_001009944.3(PKD1):c.5707delinsGA (p.Gln1903fs)
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser) rs2092437527
NM_001009944.3(PKD1):c.6005T>A (p.Val2002Asp)
NM_001009944.3(PKD1):c.6280T>G (p.Trp2094Gly)
NM_001009944.3(PKD1):c.6292G>A (p.Asp2098Asn)
NM_001009944.3(PKD1):c.6293A>T (p.Asp2098Val)
NM_001009944.3(PKD1):c.629G>A (p.Cys210Tyr) rs2092673697
NM_001009944.3(PKD1):c.6331G>T (p.Glu2111Ter)
NM_001009944.3(PKD1):c.6384C>A (p.Asn2128Lys)
NM_001009944.3(PKD1):c.6384C>G (p.Asn2128Lys) rs1247882278
NM_001009944.3(PKD1):c.6421G>T (p.Val2141Phe)
NM_001009944.3(PKD1):c.6545_6603delinsGCTCG (p.Gln2182_Pro2201delinsArgSer) rs2544801847
NM_001009944.3(PKD1):c.6576_6582del (p.Cys2195fs)
NM_001009944.3(PKD1):c.662T>C (p.Leu221Pro) rs1567218310
NM_001009944.3(PKD1):c.664G>C (p.Ala222Pro)
NM_001009944.3(PKD1):c.6656C>G (p.Pro2219Arg)
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu) rs1567191874
NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del) rs2151786683
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del) rs1596550396
NM_001009944.3(PKD1):c.6760G>A (p.Glu2254Lys)
NM_001009944.3(PKD1):c.6778_6780del (p.Ile2260del) rs2544800298
NM_001009944.3(PKD1):c.6890A>C (p.His2297Pro)
NM_001009944.3(PKD1):c.6892T>G (p.Trp2298Gly)
NM_001009944.3(PKD1):c.689G>T (p.Cys230Phe)
NM_001009944.3(PKD1):c.692T>C (p.Leu231Pro)
NM_001009944.3(PKD1):c.694T>C (p.Cys232Arg) rs2151824152
NM_001009944.3(PKD1):c.7065+2T>C
NM_001009944.3(PKD1):c.7065+2del
NM_001009944.3(PKD1):c.7108T>A (p.Cys2370Ser)
NM_001009944.3(PKD1):c.7109G>A (p.Cys2370Tyr)
NM_001009944.3(PKD1):c.7118G>A (p.Cys2373Tyr) rs2544784938
NM_001009944.3(PKD1):c.7250T>C (p.Leu2417Pro)
NM_001009944.3(PKD1):c.7268C>T (p.Ser2423Phe) rs1555453207
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp) rs151257298
NM_001009944.3(PKD1):c.7483T>C (p.Cys2495Arg) rs2092338268
NM_001009944.3(PKD1):c.7490-11C>G
NM_001009944.3(PKD1):c.7567GAG[1] (p.Glu2524del) rs1555452876
NM_001009944.3(PKD1):c.7703+2T>A
NM_001009944.3(PKD1):c.7703+5G>C
NM_001009944.3(PKD1):c.7832_7835dup (p.Ala2614fs)
NM_001009944.3(PKD1):c.7837_7839del (p.Leu2613del) rs2544775052
NM_001009944.3(PKD1):c.7864-1G>A rs2092305301
NM_001009944.3(PKD1):c.7892_7911del (p.Glu2631fs)
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys) rs1452322332
NM_001009944.3(PKD1):c.8016+1G>A rs2544768869
NM_001009944.3(PKD1):c.8016+2T>C rs1596536505
NM_001009944.3(PKD1):c.8161+2_8161+3delinsGT
NM_001009944.3(PKD1):c.8263del (p.Asn2754_Leu2755insTer) rs2151756041
NM_001009944.3(PKD1):c.8288T>C (p.Leu2763Pro) rs2092204260
NM_001009944.3(PKD1):c.8299_8310del (p.Arg2767_Asn2770del)
NM_001009944.3(PKD1):c.8304_8326del (p.Leu2769fs)
NM_001009944.3(PKD1):c.8354G>A (p.Gly2785Asp) rs2544745312
NM_001009944.3(PKD1):c.8447T>A (p.Leu2816Gln)
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro) rs1567177684
NM_001009944.3(PKD1):c.8483T>C (p.Leu2828Pro) rs1555451143
NM_001009944.3(PKD1):c.8498C>T (p.Pro2833Leu)
NM_001009944.3(PKD1):c.8554G>C (p.Ala2852Pro)
NM_001009944.3(PKD1):c.8558T>C (p.Phe2853Ser)
NM_001009944.3(PKD1):c.8909del (p.Gly2970fs) rs2544737008
NM_001009944.3(PKD1):c.8930C>T (p.Thr2977Ile)
NM_001009944.3(PKD1):c.8933T>C (p.Phe2978Ser) rs1596523677
NM_001009944.3(PKD1):c.8948+1del
NM_001009944.3(PKD1):c.8971T>G (p.Tyr2991Asp)
NM_001009944.3(PKD1):c.8978T>A (p.Leu2993Gln) rs1555450487
NM_001009944.3(PKD1):c.8998C>G (p.Arg3000Gly)
NM_001009944.3(PKD1):c.8999G>C (p.Arg3000Pro) rs746460070
NM_001009944.3(PKD1):c.9029T>A (p.Leu3010Gln) rs750501225
NM_001009944.3(PKD1):c.9047A>G (p.Gln3016Arg) rs2151750082
NM_001009944.3(PKD1):c.9111_9132del (p.Arg3039fs)
NM_001009944.3(PKD1):c.9154G>C (p.Gly3052Arg)
NM_001009944.3(PKD1):c.9157G>A (p.Ala3053Thr) rs200360336
NM_001009944.3(PKD1):c.9201+4A>G
NM_001009944.3(PKD1):c.9201+5G>A rs1596521826
NM_001009944.3(PKD1):c.9395C>T (p.Ser3132Leu) rs2092119222
NM_001009944.3(PKD1):c.9407C>T (p.Ala3136Val)
NM_001009944.3(PKD1):c.9413T>A (p.Val3138Glu)
NM_001009944.3(PKD1):c.9431G>A (p.Gly3144Glu)
NM_001009944.3(PKD1):c.9504C>G (p.Phe3168Leu)
NM_001009944.3(PKD1):c.9543G>C (p.Lys3181Asn) rs2092047055
NM_001009944.3(PKD1):c.9556C>G (p.His3186Asp)
NM_001009944.3(PKD1):c.9559G>A (p.Asp3187Asn)
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del) rs869312944
NM_001009944.3(PKD1):c.9562A>T (p.Asn3188Tyr)
NM_001009944.3(PKD1):c.9569-1G>A rs2151741177
NM_001009944.3(PKD1):c.9595_9618del (p.His3199_Gln3206del)
NM_001009944.3(PKD1):c.9598G>T (p.Val3200Phe) rs1422698524
NM_001009944.3(PKD1):c.9674_9700del (p.Ala3225_Glu3233del) rs1555449461
NM_001009944.3(PKD1):c.9773_9787del (p.Phe3258_Ile3262del)
NM_001009944.3(PKD1):c.9789G>T (p.Trp3263Cys)
NM_001009944.3(PKD1):c.9794C>A (p.Ser3265Tyr) rs1188643869
NM_001009944.3(PKD1):c.9806G>A (p.Arg3269Gln)
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del) rs2092020811
NM_001009944.3(PKD1):c.9924-1G>C rs2151738493

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