ClinVar Miner

List of variants in gene PKD1 reported by MVZ Medizinische Genetik Mainz

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 231
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.4355C>T (p.Ser1452Phe) rs767435117 0.00004
NM_001009944.3(PKD1):c.9805C>T (p.Arg3269Trp) rs980803513 0.00003
NM_001009944.3(PKD1):c.12413G>A (p.Arg4138His) rs1321320963 0.00001
NM_001009944.3(PKD1):c.7065G>A (p.Thr2355=) rs573444508 0.00001
NM_001009944.3(PKD1):c.10230_10231dup (p.Trp3411fs)
NM_001009944.3(PKD1):c.10261_10264del (p.Pro3421fs) rs2544688790
NM_001009944.3(PKD1):c.10289_10305dup (p.Gln3436fs) rs2544688348
NM_001009944.3(PKD1):c.10290G>A (p.Val3430=) rs2544688515
NM_001009944.3(PKD1):c.10307_10329del (p.Gln3436fs) rs2544688079
NM_001009944.3(PKD1):c.10321_10325del (p.Gln3441fs) rs2544688140
NM_001009944.3(PKD1):c.10563_10567del (p.Ser3523fs) rs2544654552
NM_001009944.3(PKD1):c.10615_10618+1del rs2544653894
NM_001009944.3(PKD1):c.10670T>G (p.Leu3557Arg) rs2544651770
NM_001009944.3(PKD1):c.10698GGCTGT[1] (p.3567AV[1]) rs777460677
NM_001009944.3(PKD1):c.10711dup (p.Ala3571fs) rs2544651236
NM_001009944.3(PKD1):c.10720G>C (p.Gly3574Arg) rs2544651044
NM_001009944.3(PKD1):c.10771T>C (p.Ser3591Pro) rs2544650348
NM_001009944.3(PKD1):c.10802T>G (p.Leu3601Arg) rs2544649965
NM_001009944.3(PKD1):c.10822-30_10852del rs2544648459
NM_001009944.3(PKD1):c.10846_10847dup (p.Leu3617fs) rs2544648514
NM_001009944.3(PKD1):c.10945C>T (p.Pro3649Ser) rs2544647097
NM_001009944.3(PKD1):c.10961_10982del (p.Leu3654fs) rs2544646598
NM_001009944.3(PKD1):c.11002_11003dup (p.Gly3669fs) rs2544646304
NM_001009944.3(PKD1):c.11017-27T>C
NM_001009944.3(PKD1):c.11023del (p.Leu3675fs) rs2544639462
NM_001009944.3(PKD1):c.11057T>G (p.Leu3686Arg)
NM_001009944.3(PKD1):c.11098C>T (p.Arg3700Cys) rs758831274
NM_001009944.3(PKD1):c.11150T>G (p.Ile3717Ser) rs2544637950
NM_001009944.3(PKD1):c.11152_11153del (p.Thr3718fs) rs2544637927
NM_001009944.3(PKD1):c.1118_1119delinsGT (p.Leu373Arg) rs2544877658
NM_001009944.3(PKD1):c.11192_11193delinsCT (p.Leu3731Pro) rs2544632089
NM_001009944.3(PKD1):c.11253G>T (p.Gln3751His) rs2544631346
NM_001009944.3(PKD1):c.11270-4del
NM_001009944.3(PKD1):c.11315_11321del (p.Ala3772fs) rs2544625519
NM_001009944.3(PKD1):c.11389dup (p.Tyr3797fs)
NM_001009944.3(PKD1):c.11412-1G>C rs2544621386
NM_001009944.3(PKD1):c.11412-7_11468del rs2544620556
NM_001009944.3(PKD1):c.11454C>T (p.Gly3818=)
NM_001009944.3(PKD1):c.11488_11489del (p.Ser3830fs) rs2544620270
NM_001009944.3(PKD1):c.11532C>A (p.Asp3844Glu)
NM_001009944.3(PKD1):c.11538-51_11554del rs2544615546
NM_001009944.3(PKD1):c.11546C>A (p.Ala3849Asp)
NM_001009944.3(PKD1):c.11557G>A (p.Glu3853Lys) rs2091580237
NM_001009944.3(PKD1):c.11615A>T (p.Glu3872Val)
NM_001009944.3(PKD1):c.11633_11646del (p.Arg3878fs) rs2544614330
NM_001009944.3(PKD1):c.11642C>A (p.Ala3881Asp) rs2544614386
NM_001009944.3(PKD1):c.11650del (p.Ser3884fs) rs2544614260
NM_001009944.3(PKD1):c.11674_11695del (p.Arg3892fs) rs2544613573
NM_001009944.3(PKD1):c.11693_11702del (p.Ser3898fs) rs2544613308
NM_001009944.3(PKD1):c.11800_11801del (p.Gly3934fs) rs2544599434
NM_001009944.3(PKD1):c.11843C>G (p.Thr3948Arg) rs2544598854
NM_001009944.3(PKD1):c.11881_11981del (p.Arg3961fs) rs2544596612
NM_001009944.3(PKD1):c.11939T>G (p.Val3980Gly) rs2544597374
NM_001009944.3(PKD1):c.11989del (p.Leu3997fs) rs2544596466
NM_001009944.3(PKD1):c.11995_11996dup (p.Leu3999fs) rs2544596335
NM_001009944.3(PKD1):c.12004-1G>A rs2544594493
NM_001009944.3(PKD1):c.1202-10C>A rs529554291
NM_001009944.3(PKD1):c.12119A>G (p.Tyr4040Cys) rs757297994
NM_001009944.3(PKD1):c.12138+2T>A
NM_001009944.3(PKD1):c.12144_12145del (p.Ser4049fs) rs2544589539
NM_001009944.3(PKD1):c.1217G>A (p.Cys406Tyr) rs2544876485
NM_001009944.3(PKD1):c.12381C>A (p.Tyr4127Ter) rs756212622
NM_001009944.3(PKD1):c.123_129del (p.Gly44fs) rs2544960411
NM_001009944.3(PKD1):c.12407_12415dup (p.Arg4138_Leu4139insArgLeuArg) rs2544584568
NM_001009944.3(PKD1):c.12464T>A (p.Phe4155Tyr) rs2544581051
NM_001009944.3(PKD1):c.12464T>C (p.Phe4155Ser) rs2544581051
NM_001009944.3(PKD1):c.12570dup (p.Ser4191fs) rs2544579371
NM_001009944.3(PKD1):c.12605del (p.Gly4202fs) rs2544578863
NM_001009944.3(PKD1):c.12615dup (p.Thr4206fs) rs2544578657
NM_001009944.3(PKD1):c.12682del (p.Arg4228fs)
NM_001009944.3(PKD1):c.12794del (p.Gly4265fs)
NM_001009944.3(PKD1):c.1282_1296del (p.Ala428_Ala432del) rs2544876125
NM_001009944.3(PKD1):c.12911A>G (p.Ter4304Trp)
NM_001009944.3(PKD1):c.12912G>C (p.Ter4304Tyr)
NM_001009944.3(PKD1):c.1322_1339del (p.Gly441_Met446del)
NM_001009944.3(PKD1):c.1331T>C (p.Leu444Pro) rs2544875911
NM_001009944.3(PKD1):c.1386-3C>G
NM_001009944.3(PKD1):c.1429G>T (p.Glu477Ter) rs1346411637
NM_001009944.3(PKD1):c.1458dup (p.Phe487fs)
NM_001009944.3(PKD1):c.146T>G (p.Val49Gly)
NM_001009944.3(PKD1):c.1491del (p.Glu499fs) rs2092648005
NM_001009944.3(PKD1):c.1501C>T (p.His501Tyr) rs2544872195
NM_001009944.3(PKD1):c.151T>A (p.Cys51Ser) rs2151858256
NM_001009944.3(PKD1):c.1546del (p.Trp516fs) rs2544871950
NM_001009944.3(PKD1):c.1564T>G (p.Cys522Gly) rs2544871836
NM_001009944.3(PKD1):c.1588_1592del (p.Cys530fs) rs2544871731
NM_001009944.3(PKD1):c.1606+2T>G rs2544871660
NM_001009944.3(PKD1):c.1628dup (p.Asn543fs) rs2544870113
NM_001009944.3(PKD1):c.1720G>T (p.Glu574Ter)
NM_001009944.3(PKD1):c.1787C>A (p.Thr596Asn) rs2544866152
NM_001009944.3(PKD1):c.1850-1G>A rs2544861967
NM_001009944.3(PKD1):c.2097G>C (p.Ser699=) rs2544860109
NM_001009944.3(PKD1):c.215+1G>T rs1555462433
NM_001009944.3(PKD1):c.215+672G>A
NM_001009944.3(PKD1):c.2153A>G (p.Gln718Arg) rs754490344
NM_001009944.3(PKD1):c.2156A>G (p.His719Arg)
NM_001009944.3(PKD1):c.2674del (p.Thr892fs) rs2544852424
NM_001009944.3(PKD1):c.2850del (p.Leu950_Val951insTer) rs2544851099
NM_001009944.3(PKD1):c.2853+5G>C rs1287693928
NM_001009944.3(PKD1):c.2857T>G (p.Tyr953Asp) rs2544845376
NM_001009944.3(PKD1):c.2948A>G (p.Asn983Ser) rs753961474
NM_001009944.3(PKD1):c.2952_2955del (p.Tyr986fs) rs2544844866
NM_001009944.3(PKD1):c.2962_2985+1del rs2544844679
NM_001009944.3(PKD1):c.2966_2970del (p.Ala989fs) rs2544844747
NM_001009944.3(PKD1):c.2985+3del
NM_001009944.3(PKD1):c.3121del (p.Ala1041fs)
NM_001009944.3(PKD1):c.3141_3158dup (p.Ala1052_Phe1053insLeuAlaValGluValAla)
NM_001009944.3(PKD1):c.3160del (p.Leu1054fs) rs2544840995
NM_001009944.3(PKD1):c.3161+1G>C rs2544840964
NM_001009944.3(PKD1):c.3161T>C (p.Leu1054Pro) rs2544840969
NM_001009944.3(PKD1):c.3162-1G>A rs2544837759
NM_001009944.3(PKD1):c.3162-1G>T rs2544837759
NM_001009944.3(PKD1):c.3162-3C>G rs2544837768
NM_001009944.3(PKD1):c.3240dup (p.Ser1081fs)
NM_001009944.3(PKD1):c.3277C>G (p.His1093Asp) rs146352591
NM_001009944.3(PKD1):c.3294_3295+5del
NM_001009944.3(PKD1):c.3441C>A (p.Tyr1147Ter) rs762887911
NM_001009944.3(PKD1):c.3489del (p.Phe1163fs)
NM_001009944.3(PKD1):c.3586_3587del (p.Thr1196fs) rs2544829575
NM_001009944.3(PKD1):c.3613del (p.Asp1205fs) rs2544829295
NM_001009944.3(PKD1):c.3745G>A (p.Asp1249Asn) rs2544828142
NM_001009944.3(PKD1):c.3764del (p.Gly1255fs) rs2544827974
NM_001009944.3(PKD1):c.381dup (p.Glu128Ter) rs2544883301
NM_001009944.3(PKD1):c.3930_3931insCA (p.Ala1311fs) rs2544826608
NM_001009944.3(PKD1):c.3944C>A (p.Ala1315Asp) rs762953714
NM_001009944.3(PKD1):c.4023dup (p.Cys1342fs) rs2544825647
NM_001009944.3(PKD1):c.4138_4164del (p.Val1380_Glu1388del) rs2544824510
NM_001009944.3(PKD1):c.415T>G (p.Trp139Gly)
NM_001009944.3(PKD1):c.417G>C (p.Trp139Cys) rs2544883148
NM_001009944.3(PKD1):c.4240T>G (p.Trp1414Gly)
NM_001009944.3(PKD1):c.4282_4291del (p.Arg1427_Gly1428insTer) rs2544823259
NM_001009944.3(PKD1):c.4308_4339del (p.Asp1437fs) rs2544822734
NM_001009944.3(PKD1):c.4457T>C (p.Leu1486Pro)
NM_001009944.3(PKD1):c.4493A>G (p.Tyr1498Cys) rs2544821178
NM_001009944.3(PKD1):c.4521G>A (p.Trp1507Ter) rs2544821034
NM_001009944.3(PKD1):c.4753del (p.Cys1585fs)
NM_001009944.3(PKD1):c.4755_4756del (p.Cys1585_Asp1586delinsTer)
NM_001009944.3(PKD1):c.4831G>T (p.Val1611Phe)
NM_001009944.3(PKD1):c.4838C>A (p.Ala1613Asp)
NM_001009944.3(PKD1):c.512T>A (p.Leu171Ter) rs2544882746
NM_001009944.3(PKD1):c.5207_5209delinsGCC (p.Val1736_Thr1737delinsGlyPro) rs2544814037
NM_001009944.3(PKD1):c.5249A>G (p.Tyr1750Cys)
NM_001009944.3(PKD1):c.5266G>T (p.Glu1756Ter)
NM_001009944.3(PKD1):c.52T>C (p.Trp18Arg)
NM_001009944.3(PKD1):c.5497A>C (p.Thr1833Pro) rs1475056804
NM_001009944.3(PKD1):c.5509T>G (p.Trp1837Gly)
NM_001009944.3(PKD1):c.5615T>G (p.Val1872Gly) rs2544811105
NM_001009944.3(PKD1):c.5669_5682dup (p.Ser1895fs)
NM_001009944.3(PKD1):c.5756T>C (p.Phe1919Ser) rs2544809840
NM_001009944.3(PKD1):c.576_586del (p.Ala193fs) rs2544880866
NM_001009944.3(PKD1):c.5839GTG[1] (p.Val1948del) rs2544808543
NM_001009944.3(PKD1):c.6011A>G (p.Tyr2004Cys) rs2544806761
NM_001009944.3(PKD1):c.6011_6016del (p.Tyr2004_Ala2005del) rs2092436949
NM_001009944.3(PKD1):c.6021C>G (p.Tyr2007Ter) rs147391291
NM_001009944.3(PKD1):c.6086del (p.Thr2029fs)
NM_001009944.3(PKD1):c.6131A>T (p.Asn2044Ile)
NM_001009944.3(PKD1):c.6191T>A (p.Val2064Glu) rs2544804974
NM_001009944.3(PKD1):c.6340T>C (p.Tyr2114His)
NM_001009944.3(PKD1):c.6346_6352del (p.Arg2116fs) rs2544803642
NM_001009944.3(PKD1):c.6360C>A (p.Tyr2120Ter) rs1404404094
NM_001009944.3(PKD1):c.6365T>A (p.Val2122Glu)
NM_001009944.3(PKD1):c.6380_6397dup (p.Phe2132_Phe2133insSerAsnLeuValSerPhe) rs2544803389
NM_001009944.3(PKD1):c.6383A>G (p.Asn2128Ser) rs2544803461
NM_001009944.3(PKD1):c.6549del (p.Glu2184fs) rs2544802378
NM_001009944.3(PKD1):c.6561G>C (p.Trp2187Cys) rs867422468
NM_001009944.3(PKD1):c.6561G>T (p.Trp2187Cys) rs867422468
NM_001009944.3(PKD1):c.6638G>C (p.Arg2213Pro) rs751540966
NM_001009944.3(PKD1):c.6640C>T (p.Pro2214Ser) rs1567191971
NM_001009944.3(PKD1):c.6660del (p.Leu2221fs) rs2544801350
NM_001009944.3(PKD1):c.6684C>G (p.Tyr2228Ter) rs149862983
NM_001009944.3(PKD1):c.6700G>T (p.Val2234Leu) rs762322536
NM_001009944.3(PKD1):c.6769del (p.Val2257fs) rs2544800435
NM_001009944.3(PKD1):c.6794dup (p.Tyr2265Ter)
NM_001009944.3(PKD1):c.7066-1G>C rs2544785393
NM_001009944.3(PKD1):c.7067T>G (p.Val2356Gly) rs2544785366
NM_001009944.3(PKD1):c.7078_7081del (p.Ser2360fs) rs2544785272
NM_001009944.3(PKD1):c.7244T>G (p.Leu2415Arg)
NM_001009944.3(PKD1):c.7271C>A (p.Thr2424Lys)
NM_001009944.3(PKD1):c.7303dup (p.Arg2435fs) rs2544781629
NM_001009944.3(PKD1):c.7305_7309del (p.Gly2436fs)
NM_001009944.3(PKD1):c.7508_7518del (p.Asp2503fs)
NM_001009944.3(PKD1):c.7534del (p.Leu2512fs) rs2544778476
NM_001009944.3(PKD1):c.7664T>G (p.Val2555Gly) rs2544777388
NM_001009944.3(PKD1):c.7679_7690del (p.Gly2560_Val2563del)
NM_001009944.3(PKD1):c.7704-1G>C rs2544776487
NM_001009944.3(PKD1):c.771dup (p.Thr258fs) rs2544879772
NM_001009944.3(PKD1):c.782del (p.Gly261fs) rs2544879677
NM_001009944.3(PKD1):c.7884_7903dup (p.Glu2635fs) rs2544769929
NM_001009944.3(PKD1):c.7887_7888insTGTGGCG (p.Ala2630fs) rs2544770043
NM_001009944.3(PKD1):c.8161+2T>G
NM_001009944.3(PKD1):c.8272_8283del (p.Ala2758_Arg2761del) rs2544746064
NM_001009944.3(PKD1):c.8324_8325insA (p.Leu2776fs) rs2544745612
NM_001009944.3(PKD1):c.8332_8344dup (p.Val2782fs) rs2544745408
NM_001009944.3(PKD1):c.8355C>T (p.Gly2785=) rs2544745305
NM_001009944.3(PKD1):c.8374del (p.Ser2792fs) rs2544745075
NM_001009944.3(PKD1):c.8461dup (p.Asp2821fs)
NM_001009944.3(PKD1):c.8480_8481insCT (p.Leu2828fs) rs2544744207
NM_001009944.3(PKD1):c.8493dup (p.Asn2832fs) rs2544744105
NM_001009944.3(PKD1):c.8530_8538del (p.Val2844_Thr2846del) rs2544743677
NM_001009944.3(PKD1):c.8554del (p.Ala2852fs) rs2544743555
NM_001009944.3(PKD1):c.8574_8580del (p.Ala2859fs)
NM_001009944.3(PKD1):c.8691del (p.Val2898fs) rs2544742014
NM_001009944.3(PKD1):c.8757del (p.Leu2920fs) rs2544741352
NM_001009944.3(PKD1):c.8776T>C (p.Tyr2926His)
NM_001009944.3(PKD1):c.8840A>C (p.His2947Pro)
NM_001009944.3(PKD1):c.8978T>G (p.Leu2993Arg) rs1555450487
NM_001009944.3(PKD1):c.8993A>C (p.His2998Pro) rs2092140615
NM_001009944.3(PKD1):c.899dup (p.Thr301fs) rs2544878899
NM_001009944.3(PKD1):c.9038C>T (p.Ser3013Phe) rs2544733576
NM_001009944.3(PKD1):c.9045C>G (p.Cys3015Trp) rs1596522411
NM_001009944.3(PKD1):c.9048del (p.Gln3016fs)
NM_001009944.3(PKD1):c.9049T>G (p.Tyr3017Asp) rs2544733483
NM_001009944.3(PKD1):c.913T>G (p.Trp305Gly)
NM_001009944.3(PKD1):c.9185_9188dup (p.Phe3064fs) rs2544732354
NM_001009944.3(PKD1):c.9201+5G>C
NM_001009944.3(PKD1):c.9373A>G (p.Lys3125Glu) rs2544729964
NM_001009944.3(PKD1):c.9386del (p.Gly3129fs) rs2544729882
NM_001009944.3(PKD1):c.9417del (p.Ile3140fs) rs2544718731
NM_001009944.3(PKD1):c.9430G>C (p.Gly3144Arg) rs1596515144
NM_001009944.3(PKD1):c.9496dup (p.Asp3166fs)
NM_001009944.3(PKD1):c.9530G>A (p.Gly3177Asp) rs2544717733
NM_001009944.3(PKD1):c.9593A>C (p.Gln3198Pro)
NM_001009944.3(PKD1):c.9644T>A (p.Val3215Asp) rs2544715688
NM_001009944.3(PKD1):c.9661del (p.Val3221fs) rs2544715545
NM_001009944.3(PKD1):c.9697dup (p.Glu3233fs) rs2544715201
NM_001009944.3(PKD1):c.9754G>A (p.Glu3252Lys) rs2544713808
NM_001009944.3(PKD1):c.9756_9771dup (p.Phe3258fs)
NM_001009944.3(PKD1):c.9841G>C (p.Ala3281Pro) rs1210319842
NM_001009944.3(PKD1):c.9851G>A (p.Cys3284Tyr) rs2544712909
NM_001009944.3(PKD1):c.9863del (p.Ile3288fs) rs2544712802
NM_001009944.3(PKD1):c.9918del (p.Tyr3307fs)

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