ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
ClinVar version:
Total variants: 97
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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.6749C>T (p.Thr2250Met) rs139971481 0.00222
NM_001009944.3(PKD1):c.8713G>A (p.Val2905Ile) rs147788838 0.00182
NM_001009944.3(PKD1):c.11017-3C>T rs185355445 0.00135
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204 0.00125
NM_001009944.3(PKD1):c.3380C>T (p.Pro1127Leu) rs145922241 0.00078
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn) rs141274774 0.00073
NM_001009944.3(PKD1):c.4838C>T (p.Ala1613Val) rs150405131 0.00038
NM_001009944.3(PKD1):c.8663G>A (p.Arg2888His) rs200168879 0.00029
NM_001009944.3(PKD1):c.11870G>A (p.Gly3957Asp) rs536586062 0.00026
NM_001009944.3(PKD1):c.5648C>T (p.Ala1883Val) rs779745348 0.00026
NM_001009944.3(PKD1):c.9923+35G>T rs376365127 0.00021
NM_001009944.3(PKD1):c.7993G>A (p.Ala2665Thr) rs764822533 0.00016
NM_001009944.3(PKD1):c.5032G>A (p.Gly1678Ser) rs146527465 0.00014
NM_001009944.3(PKD1):c.7340C>T (p.Thr2447Met) rs760315179 0.00014
NM_001009944.3(PKD1):c.4835C>T (p.Thr1612Met) rs767665300 0.00013
NM_001009944.3(PKD1):c.8237G>A (p.Arg2746Gln) rs1800569 0.00013
NM_001009944.3(PKD1):c.9067A>G (p.Met3023Val) rs17135779 0.00013
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val) rs528213425 0.00012
NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg) rs777024498 0.00012
NM_001009944.3(PKD1):c.6185A>T (p.Gln2062Leu) rs201062488 0.00011
NM_001009944.3(PKD1):c.10042C>T (p.Arg3348Trp) rs769208706 0.00010
NM_001009944.3(PKD1):c.2462T>C (p.Val821Ala) rs766549097 0.00010
NM_001009944.3(PKD1):c.3486C>G (p.Asp1162Glu) rs144211349 0.00010
NM_001009944.3(PKD1):c.8464G>A (p.Val2822Met) rs201289693 0.00010
NM_001009944.3(PKD1):c.8194C>T (p.Arg2732Trp) rs751031560 0.00009
NM_001009944.3(PKD1):c.8372G>A (p.Arg2791Gln) rs367746233 0.00009
NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val) rs746910149 0.00007
NM_001009944.3(PKD1):c.10429C>A (p.Leu3477Ile) rs62621452 0.00006
NM_001009944.3(PKD1):c.7321G>A (p.Gly2441Ser) rs376618983 0.00006
NM_001009944.3(PKD1):c.8045C>T (p.Ser2682Leu) rs151308544 0.00006
NM_001009944.3(PKD1):c.3159C>T (p.Phe1053=) rs369632433 0.00004
NM_001009944.3(PKD1):c.11014C>T (p.Arg3672Trp) rs140389000 0.00003
NM_001009944.3(PKD1):c.9199C>T (p.Pro3067Ser) rs1211697062 0.00003
NM_001009944.3(PKD1):c.9313C>T (p.Arg3105Trp) rs1376608198 0.00003
NM_001009944.3(PKD1):c.3344C>T (p.Thr1115Met) rs552292318 0.00002
NM_001009944.3(PKD1):c.9124G>A (p.Val3042Ile) rs966307189 0.00002
NM_001009944.3(PKD1):c.10027C>T (p.Leu3343Phe) rs1158465434 0.00001
NM_001009944.3(PKD1):c.10903G>C (p.Ala3635Pro) rs1166642512 0.00001
NM_001009944.3(PKD1):c.6313A>G (p.Thr2105Ala) rs1229710301 0.00001
NM_001009944.3(PKD1):c.7777G>A (p.Ala2593Thr) rs760879762 0.00001
NM_001009944.3(PKD1):c.9815G>A (p.Arg3272His) rs1452116333 0.00001
NM_001009944.3(PKD1):c.10165G>A (p.Glu3389Lys) rs756738297
NM_001009944.3(PKD1):c.10426G>A (p.Val3476Ile) rs776616291
NM_001009944.3(PKD1):c.10850T>C (p.Leu3617Pro) rs1567158067
NM_001009944.3(PKD1):c.1096T>C (p.Ser366Pro) rs2092666416
NM_001009944.3(PKD1):c.11450G>A (p.Gly3817Glu) rs1168911293
NM_001009944.3(PKD1):c.11606T>C (p.Leu3869Pro) rs1555445569
NM_001009944.3(PKD1):c.12070C>T (p.Pro4024Ser) rs771494407
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu) rs2091413514
NM_001009944.3(PKD1):c.12643C>T (p.Leu4215Phe) rs757068311
NM_001009944.3(PKD1):c.1384A>G (p.Arg462Gly) rs1555458865
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
NM_001009944.3(PKD1):c.1544G>T (p.Gly515Val) rs2092647090
NM_001009944.3(PKD1):c.1617G>C (p.Gln539His) rs1382845038
NM_001009944.3(PKD1):c.1685A>G (p.Gln562Arg) rs1185676416
NM_001009944.3(PKD1):c.2105T>G (p.Leu702Arg) rs1596577674
NM_001009944.3(PKD1):c.2780CGG[1] (p.Ala928del) rs1596574952
NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp) rs1567208088
NM_001009944.3(PKD1):c.2885A>G (p.Asp962Gly) rs1567208045
NM_001009944.3(PKD1):c.2902A>G (p.Thr968Ala) rs1555457457
NM_001009944.3(PKD1):c.2914A>G (p.Lys972Glu) rs2092566273
NM_001009944.3(PKD1):c.2930T>A (p.Phe977Tyr) rs1596570459
NM_001009944.3(PKD1):c.2942T>C (p.Val981Ala) rs1555457440
NM_001009944.3(PKD1):c.303C>A (p.Asn101Lys) rs2092684130
NM_001009944.3(PKD1):c.359+5G>A rs2092683412
NM_001009944.3(PKD1):c.3667G>A (p.Val1223Met) rs749092859
NM_001009944.3(PKD1):c.3977T>C (p.Phe1326Ser) rs2092493397
NM_001009944.3(PKD1):c.4148T>A (p.Val1383Asp) rs1567201202
NM_001009944.3(PKD1):c.4217C>T (p.Pro1406Leu) rs1258742494
NM_001009944.3(PKD1):c.4625T>G (p.Val1542Gly) rs2092475450
NM_001009944.3(PKD1):c.4756G>A (p.Asp1586Asn) rs770968964
NM_001009944.3(PKD1):c.5037C>A (p.Ser1679Arg) rs144091742
NM_001009944.3(PKD1):c.5108T>C (p.Leu1703Pro) rs1596556474
NM_001009944.3(PKD1):c.5803C>T (p.Arg1935Cys) rs776113903
NM_001009944.3(PKD1):c.5866G>T (p.Val1956Leu) rs781454286
NM_001009944.3(PKD1):c.6335A>C (p.His2112Pro) rs1596551934
NM_001009944.3(PKD1):c.662T>C (p.Leu221Pro) rs1567218310
NM_001009944.3(PKD1):c.665C>A (p.Ala222Glu) rs1567218284
NM_001009944.3(PKD1):c.6784G>C (p.Gly2262Arg) rs1567191274
NM_001009944.3(PKD1):c.7145G>T (p.Ser2382Ile) rs1555453383
NM_001009944.3(PKD1):c.7499A>T (p.Asp2500Val) rs1596540533
NM_001009944.3(PKD1):c.7546C>G (p.Arg2516Gly) rs797044902
NM_001009944.3(PKD1):c.7702A>G (p.Arg2568Gly) rs2092327341
NM_001009944.3(PKD1):c.7712C>T (p.Ala2571Val) rs756838066
NM_001009944.3(PKD1):c.8087T>C (p.Leu2696Pro) rs201238819
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del) rs1596527370
NM_001009944.3(PKD1):c.8777A>G (p.Tyr2926Cys) rs1229120097
NM_001009944.3(PKD1):c.8828C>T (p.Ala2943Val) rs1567175859
NM_001009944.3(PKD1):c.89G>A (p.Cys30Tyr) rs2092941343
NM_001009944.3(PKD1):c.9119A>C (p.Gln3040Pro) rs2092136027
NM_001009944.3(PKD1):c.9201+5G>A rs1596521826
NM_001009944.3(PKD1):c.9377C>T (p.Thr3126Ile) rs1567173560
NM_001009944.3(PKD1):c.9430G>A (p.Gly3144Arg) rs1596515144
NM_001009944.3(PKD1):c.9694A>G (p.Lys3232Glu) rs2092034761
NM_001009944.3(PKD1):c.9767G>T (p.Gly3256Val) rs1596512954
NM_001009944.3(PKD1):c.9847T>C (p.Cys3283Arg) rs2092021242

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