ClinVar Miner

List of variants in gene PKD1 reported as pathogenic by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100 0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757 0.00001
NM_001009944.3(PKD1):c.8017-2_8017-1del rs1567180636 0.00001
NM_001009944.3(PKD1):c.9412G>A (p.Val3138Met) rs1358566538 0.00001
NM_001009944.3(PKD1):c.10140_10143del (p.Phe3380fs) rs2544693381
NM_001009944.3(PKD1):c.10167+25_10167+43del rs1197421698
NM_001009944.3(PKD1):c.1021dup (p.Ala341fs) rs2544878096
NM_001009944.3(PKD1):c.10397C>G (p.Ser3466Ter) rs147464577
NM_001009944.3(PKD1):c.10540C>T (p.Gln3514Ter) rs1567159623
NM_001009944.3(PKD1):c.10619-2A>G rs2544652543
NM_001009944.3(PKD1):c.10722del (p.Trp3575fs)
NM_001009944.3(PKD1):c.108del (p.Cys37fs) rs2092941062
NM_001009944.3(PKD1):c.10966del (p.Leu3656fs) rs2544646762
NM_001009944.3(PKD1):c.11017-10C>A rs555703777
NM_001009944.3(PKD1):c.11033del (p.Met3678fs) rs1555446637
NM_001009944.3(PKD1):c.11235dup (p.Pro3746fs) rs2544631623
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln) rs1555446330
NM_001009944.3(PKD1):c.11270-25_11316del rs2544625593
NM_001009944.3(PKD1):c.11314del (p.Ala3772fs) rs1555446033
NM_001009944.3(PKD1):c.11379del (p.Thr3794fs) rs1567153758
NM_001009944.3(PKD1):c.11386dup (p.Ala3796fs) rs2544624546
NM_001009944.3(PKD1):c.11453dup (p.Tyr3819fs) rs1567153194
NM_001009944.3(PKD1):c.11454del (p.Tyr3819fs) rs2091600536
NM_001009944.3(PKD1):c.11552_11557del (p.Phe3851_Glu3853delinsTer) rs2544615479
NM_001009944.3(PKD1):c.11713-2A>G rs1555445274
NM_001009944.3(PKD1):c.11729_11747del (p.Phe3910fs) rs2544600433
NM_001009944.3(PKD1):c.11773G>T (p.Glu3925Ter) rs1425693814
NM_001009944.3(PKD1):c.11805dup (p.Trp3936fs) rs2544599360
NM_001009944.3(PKD1):c.11860G>C (p.Ala3954Pro) rs1424496188
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.12382G>T (p.Glu4128Ter) rs1596473289
NM_001009944.3(PKD1):c.12386TGG[1] (p.Val4130del) rs2544585102
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys) rs1282668884
NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs) rs2091411664
NM_001009944.3(PKD1):c.12557_12558del (p.His4186fs)
NM_001009944.3(PKD1):c.12608_12635del (p.Arg4203fs) rs2544578227
NM_001009944.3(PKD1):c.12673C>T (p.Gln4225Ter) rs2091395464
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter) rs1045675831
NM_001009944.3(PKD1):c.12739C>T (p.Gln4247Ter) rs2091390332
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val) rs1060499699
NM_001009944.3(PKD1):c.1426del (p.Val476fs) rs2544872575
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
NM_001009944.3(PKD1):c.1583A>G (p.Tyr528Cys) rs750798165
NM_001009944.3(PKD1):c.1584del (p.Ser527_Tyr528insTer) rs2527408768
NM_001009944.3(PKD1):c.1589G>A (p.Cys530Tyr) rs2544871753
NM_001009944.3(PKD1):c.165dup (p.Leu56fs)
NM_001009944.3(PKD1):c.1663G>T (p.Gly555Ter) rs2092640827
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.2038del (p.Tyr680fs) rs1448641464
NM_001009944.3(PKD1):c.2113C>T (p.Gln705Ter) rs2092604224
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter) rs1555458032
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs) rs1567210630
NM_001009944.3(PKD1):c.2801del (p.Gly934fs)
NM_001009944.3(PKD1):c.3398_3399del (p.Val1133fs)
NM_001009944.3(PKD1):c.3401_3404del (p.Ser1134fs) rs1567204146
NM_001009944.3(PKD1):c.3420del (p.Gly1141fs)
NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter) rs1057518899
NM_001009944.3(PKD1):c.3542A>G (p.Tyr1181Cys) rs1458516705
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.3802C>T (p.Gln1268Ter) rs2092500037
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.4064dup (p.Leu1357fs)
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs) rs1596560540
NM_001009944.3(PKD1):c.4177C>T (p.Gln1393Ter) rs1567201083
NM_001009944.3(PKD1):c.4186del (p.Asp1396fs)
NM_001009944.3(PKD1):c.4230C>A (p.Tyr1410Ter) rs2544823901
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) rs1567200516
NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter) rs1567200117
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter) rs1238351274
NM_001009944.3(PKD1):c.4551C>G (p.Tyr1517Ter) rs1238351274
NM_001009944.3(PKD1):c.4745G>A (p.Trp1582Ter) rs2544818887
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del) rs1567198691
NM_001009944.3(PKD1):c.4881T>A (p.Tyr1627Ter)
NM_001009944.3(PKD1):c.5221G>T (p.Glu1741Ter) rs2092456617
NM_001009944.3(PKD1):c.5516G>A (p.Trp1839Ter) rs2544811872
NM_001009944.3(PKD1):c.5553_5557del (p.Val1852fs) rs2544811526
NM_001009944.3(PKD1):c.5824dup (p.Arg1942fs) rs1567195285
NM_001009944.3(PKD1):c.5968_5969del (p.Arg1990fs) rs2151790499
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser) rs2092437527
NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter) rs1555454739
NM_001009944.3(PKD1):c.6040C>T (p.Gln2014Ter) rs2151790199
NM_001009944.3(PKD1):c.6184C>T (p.Gln2062Ter) rs750843149
NM_001009944.3(PKD1):c.6281G>A (p.Trp2094Ter) rs2544804084
NM_001009944.3(PKD1):c.6424C>T (p.Gln2142Ter) rs2151788037
NM_001009944.3(PKD1):c.6504C>A (p.Tyr2168Ter) rs766241260
NM_001009944.3(PKD1):c.6508dup (p.Glu2170fs) rs1567192623
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.6727_6728del (p.Gln2243fs) rs1567191601
NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter) rs1567191534
NM_001009944.3(PKD1):c.6778_6780del (p.Ile2260del) rs2544800298
NM_001009944.3(PKD1):c.6916-9G>A rs1567190244
NM_001009944.3(PKD1):c.6961_6985del (p.Ser2321fs)
NM_001009944.3(PKD1):c.6994_7000del (p.Ala2332fs) rs1555453872
NM_001009944.3(PKD1):c.7066-2A>G rs2544785397
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter) rs2432403
NM_001009944.3(PKD1):c.7292T>A (p.Leu2431Gln) rs2092344562
NM_001009944.3(PKD1):c.7421dup (p.Ser2475fs)
NM_001009944.3(PKD1):c.7422del (p.Ser2475fs) rs2544780499
NM_001009944.3(PKD1):c.7429del (p.Arg2477fs)
NM_001009944.3(PKD1):c.755dup (p.Pro253fs) rs1352019198
NM_001009944.3(PKD1):c.7655_7658dup (p.Val2554fs)
NM_001009944.3(PKD1):c.7666C>T (p.Gln2556Ter) rs1567184366
NM_001009944.3(PKD1):c.7672C>T (p.Gln2558Ter) rs2544777318
NM_001009944.3(PKD1):c.78_96dup (p.Cys33fs) rs2544960532
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter) rs757768731
NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter) rs1567182193
NM_001009944.3(PKD1):c.8017-3C>G rs780785813
NM_001009944.3(PKD1):c.8025dup (p.Arg2676fs)
NM_001009944.3(PKD1):c.8068_8102dup (p.Glu2701_Thr2702insSerTrpArgProTer)
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del) rs1596527370
NM_001009944.3(PKD1):c.8370_8376del (p.Arg2791fs)
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer) rs1555459108
NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter) rs1567176750
NM_001009944.3(PKD1):c.8925dup (p.Tyr2976fs) rs2544736793
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs) rs1555459084
NM_001009944.3(PKD1):c.9040dup (p.Leu3014fs) rs2544733556
NM_001009944.3(PKD1):c.9202-1G>T
NM_001009944.3(PKD1):c.9320_9324dup (p.Ile3109fs) rs2544730274
NM_001009944.3(PKD1):c.9325_9330delinsGCGCCATCCCC (p.Ile3109fs)
NM_001009944.3(PKD1):c.9378_9383dup (p.Trp3128Ter) rs2544729906
NM_001009944.3(PKD1):c.9397+1G>C rs2544729773
NM_001009944.3(PKD1):c.9568+1G>T rs2092046394
NM_001009944.3(PKD1):c.9585G>A (p.Trp3195Ter) rs1596514027
NM_001009944.3(PKD1):c.9670G>T (p.Glu3224Ter) rs2544715496
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del) rs2092020811

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