ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_001009944.3(PKD1):c.4447C>T (p.Gln1483Ter) rs1567200098 0.00003
NM_001009944.3(PKD1):c.4387C>T (p.Gln1463Ter) rs1183899324 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.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
GRCh37/hg19 16p13.3(chr16:2141136-2169208)
GRCh37/hg19 16p13.3(chr16:2147318-2164328)
NM_001009944.3(PKD1):c.10092dup (p.Leu3365fs) rs1567165997
NM_001009944.3(PKD1):c.10168C>T (p.Gln3390Ter) rs2151728536
NM_001009944.3(PKD1):c.10259G>A (p.Trp3420Ter) rs2151727019
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter) rs1064794206
NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter) rs1385274120
NM_001009944.3(PKD1):c.10462dup (p.Gln3488fs) rs2091883381
NM_001009944.3(PKD1):c.10516del (p.Glu3506fs) rs2151710519
NM_001009944.3(PKD1):c.10527_10528del (p.Glu3509fs) rs1378307448
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs) rs1555447011
NM_001009944.3(PKD1):c.108del (p.Cys37fs) rs2092941062
NM_001009944.3(PKD1):c.10951G>A (p.Gly3651Ser) rs2091705970
NM_001009944.3(PKD1):c.11156+1G>T rs1596485727
NM_001009944.3(PKD1):c.11156G>A (p.Arg3719Gln) rs1555446576
NM_001009944.3(PKD1):c.11200_11206del (p.Tyr3734fs) rs1567155179
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp) rs1167476946
NM_001009944.3(PKD1):c.11343C>G (p.Tyr3781Ter) rs2091619053
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser) rs1303102528
NM_001009944.3(PKD1):c.11457C>A (p.Tyr3819Ter) rs199476098
NM_001009944.3(PKD1):c.11457C>G (p.Tyr3819Ter) rs199476098
NM_001009944.3(PKD1):c.11554del (p.Leu3852fs) rs724159823
NM_001009944.3(PKD1):c.11557G>T (p.Glu3853Ter) rs2091580237
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs) rs1555445585
NM_001009944.3(PKD1):c.11692_11693del (p.Ser3898fs) rs2151695024
NM_001009944.3(PKD1):c.11693C>A (p.Ser3898Ter) rs2091572700
NM_001009944.3(PKD1):c.11766G>A (p.Trp3922Ter) rs2091498706
NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter) rs2091493090
NM_001009944.3(PKD1):c.11884C>T (p.Gln3962Ter) rs1596476503
NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter) rs1161012209
NM_001009944.3(PKD1):c.12004-2A>G rs2091475604
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.1202-1G>A rs2151822688
NM_001009944.3(PKD1):c.1202-9G>A rs1596588606
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter) rs1555444985
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter) rs777269070
NM_001009944.3(PKD1):c.12036G>A (p.Trp4012Ter) rs1218054241
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter) rs199476094
NM_001009944.3(PKD1):c.12310_12311del (p.Val4104fs) rs1060499718
NM_001009944.3(PKD1):c.12373C>T (p.Gln4125Ter) rs2091437893
NM_001009944.3(PKD1):c.12383_12387del (p.Glu4128fs) rs2151680679
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys) rs1282668884
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter) rs199476095
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.1326del (p.Ala443fs) rs2151822381
NM_001009944.3(PKD1):c.1418_1419del (p.Val473fs) rs2151820943
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg) rs58598099
NM_001009944.3(PKD1):c.1606+1G>A rs2151820539
NM_001009944.3(PKD1):c.160_166del (p.Arg54fs) rs3072277
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs) rs1555462438
NM_001009944.3(PKD1):c.1849+1G>T rs2092628618
NM_001009944.3(PKD1):c.1903C>T (p.Gln635Ter) rs1348307652
NM_001009944.3(PKD1):c.2054_2055del (p.Glu685fs) rs2151816205
NM_001009944.3(PKD1):c.2079dup (p.Pro694fs) rs1057518923
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs) rs1567212531
NM_001009944.3(PKD1):c.215+2_215+3del rs2092939625
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter) rs1555458032
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2308dup (p.Arg770fs) rs2092600549
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs) rs1567210630
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.2627_2631dup (p.Val878fs) rs1555457807
NM_001009944.3(PKD1):c.2659del (p.Trp887fs) rs2092593850
NM_001009944.3(PKD1):c.272C>A (p.Ser91Ter) rs1339097856
NM_001009944.3(PKD1):c.2853+1G>A rs2151812559
NM_001009944.3(PKD1):c.3058C>T (p.Gln1020Ter) rs753261451
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter) rs2092538738
NM_001009944.3(PKD1):c.3346C>T (p.Gln1116Ter) rs1596563657
NM_001009944.3(PKD1):c.3349C>T (p.Gln1117Ter) rs755084885
NM_001009944.3(PKD1):c.348_352del (p.Asn116fs) rs2092683596
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.4041_4042del (p.His1347fs) rs2092491511
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs) rs1596560540
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter) rs1596591955
NM_001009944.3(PKD1):c.4177C>T (p.Gln1393Ter) rs1567201083
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>G (p.Tyr1517Ter) rs1238351274
NM_001009944.3(PKD1):c.4654del (p.Val1552fs) rs2047525622
NM_001009944.3(PKD1):c.4743dup (p.Trp1582fs) rs2151796475
NM_001009944.3(PKD1):c.4797C>A (p.Tyr1599Ter) rs202110519
NM_001009944.3(PKD1):c.4861C>T (p.Gln1621Ter) rs1264176877
NM_001009944.3(PKD1):c.4906C>T (p.Gln1636Ter) rs1596557266
NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter) rs1057518783
NM_001009944.3(PKD1):c.5141del (p.Phe1714fs) rs1596556375
NM_001009944.3(PKD1):c.5395C>T (p.Gln1799Ter) rs2092452489
NM_001009944.3(PKD1):c.5510G>A (p.Trp1837Ter) rs2092450284
NM_001009944.3(PKD1):c.5552_5553del (p.His1851fs) rs1567196314
NM_001009944.3(PKD1):c.566C>G (p.Ser189Ter) rs1304952446
NM_001009944.3(PKD1):c.5764C>T (p.Gln1922Ter) rs199476101
NM_001009944.3(PKD1):c.5878C>T (p.Gln1960Ter) rs1567195059
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter) rs2092439541
NM_001009944.3(PKD1):c.5968_5969del (p.Arg1990fs) rs2151790499
NM_001009944.3(PKD1):c.601dup (p.His201fs) rs2151824362
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.6115C>T (p.Gln2039Ter) rs755747732
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter) rs1555454604
NM_001009944.3(PKD1):c.628_631dup (p.Ser211fs) rs2151824295
NM_001009944.3(PKD1):c.6406C>T (p.Gln2136Ter) rs2092425533
NM_001009944.3(PKD1):c.6424C>T (p.Gln2142Ter) rs2151788037
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.6493C>T (p.Gln2165Ter) rs1485307916
NM_001009944.3(PKD1):c.6549dup (p.Glu2184Ter) rs1555454373
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs) rs1555454353
NM_001009944.3(PKD1):c.6586C>T (p.Gln2196Ter) rs1567192286
NM_001009944.3(PKD1):c.659del (p.Gly220fs) rs2151824233
NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs) rs1567191601
NM_001009944.3(PKD1):c.6730_6731del (p.Ser2244fs) rs2151786400
NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter) rs1567191534
NM_001009944.3(PKD1):c.6806C>G (p.Ser2269Ter) rs1567191179
NM_001009944.3(PKD1):c.6871C>T (p.Gln2291Ter) rs755591790
NM_001009944.3(PKD1):c.6994_7000del (p.Ala2332fs) rs1555453872
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs) rs1555453872
NM_001009944.3(PKD1):c.7045del (p.Glu2349fs) rs1596548114
NM_001009944.3(PKD1):c.7060C>T (p.Gln2354Ter) rs2092400157
NM_001009944.3(PKD1):c.7065+1G>A rs2151783532
NM_001009944.3(PKD1):c.7137C>G (p.Tyr2379Ter) rs752114168
NM_001009944.3(PKD1):c.7174del (p.Arg2392fs) rs1555453360
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter) rs1567186946
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter) rs2432403
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter) rs1567186165
NM_001009944.3(PKD1):c.755dup (p.Pro253fs) rs1352019198
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter) rs750913623
NM_001009944.3(PKD1):c.7921C>T (p.Gln2641Ter) rs764840802
NM_001009944.3(PKD1):c.7951del (p.Val2651fs) rs2151766847
NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter) rs1567182193
NM_001009944.3(PKD1):c.8008C>T (p.Gln2670Ter) rs2092301272
NM_001009944.3(PKD1):c.8043_8046del (p.Ser2682fs) rs2092262890
NM_001009944.3(PKD1):c.8162-1G>A rs1555451430
NM_001009944.3(PKD1):c.8251C>T (p.Gln2751Ter) rs2092205600
NM_001009944.3(PKD1):c.8309_8318delinsTGACGCTGACGGGCGGG (p.Asn2770fs) rs2092202856
NM_001009944.3(PKD1):c.8470C>T (p.Gln2824Ter) rs2092196354
NM_001009944.3(PKD1):c.8560C>T (p.Gln2854Ter) rs1364976535
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.8704C>T (p.Gln2902Ter) rs1555450968
NM_001009944.3(PKD1):c.8712dup (p.Val2905fs) rs2151754069
NM_001009944.3(PKD1):c.8767C>T (p.Gln2923Ter) rs747638599
NM_001009944.3(PKD1):c.8873C>A (p.Ser2958Ter) rs750780241
NM_001009944.3(PKD1):c.8972dup (p.Tyr2991Ter) rs1567174997
NM_001009944.3(PKD1):c.8973C>A (p.Tyr2991Ter) rs1596522636
NM_001009944.3(PKD1):c.9201+1G>A rs2151749304
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs) rs1567173924
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_001009944.3(PKD1):c.9592C>T (p.Gln3198Ter) rs1474701377
NM_001009944.3(PKD1):c.9683dup (p.Leu3229fs) rs2151740671
NM_001009944.3(PKD1):c.9691G>T (p.Glu3231Ter) rs2151740638

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