ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 126
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HGVS dbSNP
NM_001009944.3(PKD1):c.10027C>T (p.Leu3343Phe) rs1158465434
NM_001009944.3(PKD1):c.10165G>A (p.Glu3389Lys) rs756738297
NM_001009944.3(PKD1):c.10407T>A (p.Asp3469Glu)
NM_001009944.3(PKD1):c.1047_1049del (p.Asp349_Val350delinsGlu) rs1567217173
NM_001009944.3(PKD1):c.1075C>G (p.Leu359Val) rs1057524759
NM_001009944.3(PKD1):c.11868_11869insACT (p.Gly3957_Ala3958insThr) rs1567149662
NM_001009944.3(PKD1):c.11880C>A (p.Asp3960Glu)
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val) rs528213425
NM_001009944.3(PKD1):c.11986_12000del (p.Phe3996_Val4000del) rs1567148933
NM_001009944.3(PKD1):c.12003+14_12003+33del rs1567148835
NM_001009944.3(PKD1):c.12003+5G>T
NM_001009944.3(PKD1):c.12139-3C>G
NM_001009944.3(PKD1):c.12146C>T (p.Ser4049Phe) rs757666977
NM_001009944.3(PKD1):c.12149C>T (p.Ser4050Phe) rs186160250
NM_001009944.3(PKD1):c.12640C>T (p.Arg4214Cys) rs569380424
NM_001009944.3(PKD1):c.12697A>C (p.Thr4233Pro) rs1230641065
NM_001009944.3(PKD1):c.12888C>G (p.Asn4296Lys)
NM_001009944.3(PKD1):c.1325C>T (p.Ala442Val)
NM_001009944.3(PKD1):c.1591G>A (p.Glu531Lys) rs1567215326
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.1886C>G (p.Ser629Cys) rs569768187
NM_001009944.3(PKD1):c.1894A>G (p.Asn632Asp)
NM_001009944.3(PKD1):c.1999A>G (p.Asn667Asp) rs1351098350
NM_001009944.3(PKD1):c.2020_2025dup (p.Gly674_Leu675dup) rs1567212718
NM_001009944.3(PKD1):c.2152C>A (p.Gln718Lys) rs1555458032
NM_001009944.3(PKD1):c.2161G>A (p.Ala721Thr) rs1085307516
NM_001009944.3(PKD1):c.2180T>A (p.Leu727Gln)
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
NM_001009944.3(PKD1):c.239G>A (p.Arg80Gln) rs1190107349
NM_001009944.3(PKD1):c.2444T>C (p.Phe815Ser)
NM_001009944.3(PKD1):c.2732T>G (p.Val911Gly)
NM_001009944.3(PKD1):c.2780_2782CGG[1] (p.Ala928del)
NM_001009944.3(PKD1):c.2806C>T (p.Arg936Cys) rs1085307552
NM_001009944.3(PKD1):c.285G>T (p.Glu95Asp)
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.296G>T (p.Ser99Ile)
NM_001009944.3(PKD1):c.3022_3039del (p.Asn1008_Val1013del) rs1567207029
NM_001009944.3(PKD1):c.3043C>T (p.Arg1015Trp)
NM_001009944.3(PKD1):c.305_307del (p.Lys102del) rs1567219527
NM_001009944.3(PKD1):c.3200T>C (p.Phe1067Ser)
NM_001009944.3(PKD1):c.3205C>T (p.Pro1069Ser)
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419
NM_001009944.3(PKD1):c.3655A>G (p.Met1219Val)
NM_001009944.3(PKD1):c.3667G>A (p.Val1223Met) rs749092859
NM_001009944.3(PKD1):c.3749G>A (p.Gly1250Asp) rs1567202673
NM_001009944.3(PKD1):c.3796C>T (p.Arg1266Trp) rs376754657
NM_001009944.3(PKD1):c.3961C>T (p.Pro1321Ser)
NM_001009944.3(PKD1):c.4008C>A (p.Asn1336Lys)
NM_001009944.3(PKD1):c.4052G>A (p.Arg1351Gln) rs374129201
NM_001009944.3(PKD1):c.4072G>C (p.Ala1358Pro) rs1567201469
NM_001009944.3(PKD1):c.4127T>C (p.Val1376Ala)
NM_001009944.3(PKD1):c.4148T>A (p.Val1383Asp) rs1567201202
NM_001009944.3(PKD1):c.4187A>T (p.Asp1396Val)
NM_001009944.3(PKD1):c.4319_4321del (p.Ser1440del) rs1567200450
NM_001009944.3(PKD1):c.4340C>A (p.Ala1447Glu)
NM_001009944.3(PKD1):c.4756G>A (p.Asp1586Asn) rs770968964
NM_001009944.3(PKD1):c.4901G>T (p.Gly1634Val)
NM_001009944.3(PKD1):c.4910T>G (p.Val1637Gly)
NM_001009944.3(PKD1):c.4968T>C (p.Val1656=)
NM_001009944.3(PKD1):c.4984G>A (p.Val1662Ile)
NM_001009944.3(PKD1):c.4988_4990del (p.Ser1663del)
NM_001009944.3(PKD1):c.5037C>A (p.Ser1679Arg) rs144091742
NM_001009944.3(PKD1):c.5080C>T (p.His1694Tyr)
NM_001009944.3(PKD1):c.5125G>A (p.Asp1709Asn) rs1199050207
NM_001009944.3(PKD1):c.5203A>T (p.Ser1735Cys) rs1064796417
NM_001009944.3(PKD1):c.5209A>G (p.Thr1737Ala)
NM_001009944.3(PKD1):c.5372A>C (p.Asn1791Thr) rs1335408319
NM_001009944.3(PKD1):c.5501A>G (p.Asn1834Ser) rs544092291
NM_001009944.3(PKD1):c.5557A>G (p.Thr1853Ala) rs1064797206
NM_001009944.3(PKD1):c.5648C>T (p.Ala1883Val) rs779745348
NM_001009944.3(PKD1):c.5665G>A (p.Gly1889Ser)
NM_001009944.3(PKD1):c.5852G>A (p.Arg1951Gln) rs137905643
NM_001009944.3(PKD1):c.5984G>C (p.Arg1995Pro)
NM_001009944.3(PKD1):c.5999C>G (p.Ser2000Cys)
NM_001009944.3(PKD1):c.6395T>G (p.Phe2132Cys) rs150154235
NM_001009944.3(PKD1):c.6622G>C (p.Gly2208Arg) rs779825346
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.6749C>T (p.Thr2250Met) rs139971481
NM_001009944.3(PKD1):c.6784G>C (p.Gly2262Arg) rs1567191274
NM_001009944.3(PKD1):c.6827T>C (p.Leu2276Pro) rs1567191044
NM_001009944.3(PKD1):c.689G>C (p.Cys230Ser) rs1255640370
NM_001009944.3(PKD1):c.7170G>A (p.Glu2390=) rs1567187083
NM_001009944.3(PKD1):c.7183A>T (p.Asn2395Tyr)
NM_001009944.3(PKD1):c.7336_7338del (p.Phe2446del) rs1567186120
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys) rs376283361
NM_001009944.3(PKD1):c.7470_7475del (p.Lys2490_His2492delinsAsn)
NM_001009944.3(PKD1):c.7495C>T (p.His2499Tyr) rs1439713011
NM_001009944.3(PKD1):c.74G>T (p.Gly25Val) rs972049140
NM_001009944.3(PKD1):c.7544G>C (p.Arg2515Pro)
NM_001009944.3(PKD1):c.7646_7648del (p.Val2549del) rs1567184420
NM_001009944.3(PKD1):c.7720C>T (p.Leu2574Phe) rs762784886
NM_001009944.3(PKD1):c.7918G>T (p.Ala2640Ser)
NM_001009944.3(PKD1):c.8112_8132del (p.Gly2705_Ala2711del)
NM_001009944.3(PKD1):c.8194C>T (p.Arg2732Trp) rs751031560
NM_001009944.3(PKD1):c.8237G>A (p.Arg2746Gln) rs1800569
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397
NM_001009944.3(PKD1):c.8302G>A (p.Val2768Met) rs1456510041
NM_001009944.3(PKD1):c.8414A>G (p.His2805Arg) rs202086892
NM_001009944.3(PKD1):c.8497C>T (p.Pro2833Ser) rs1057523051
NM_001009944.3(PKD1):c.8611G>A (p.Ala2871Thr) rs556305338
NM_001009944.3(PKD1):c.8615T>A (p.Ile2872Asn)
NM_001009944.3(PKD1):c.8620G>A (p.Val2874Met) rs574287355
NM_001009944.3(PKD1):c.8663G>A (p.Arg2888His) rs200168879
NM_001009944.3(PKD1):c.8828C>T (p.Ala2943Val) rs1567175859
NM_001009944.3(PKD1):c.8932_8934TTC[1] (p.Phe2979del) rs1358948221
NM_001009944.3(PKD1):c.9029T>A (p.Leu3010Gln) rs750501225
NM_001009944.3(PKD1):c.9067A>G (p.Met3023Val) rs17135779
NM_001009944.3(PKD1):c.9067_9123del (p.Met3023_Ala3041del) rs1567174543
NM_001009944.3(PKD1):c.9077G>C (p.Arg3026Pro)
NM_001009944.3(PKD1):c.9124G>A (p.Val3042Ile) rs966307189
NM_001009944.3(PKD1):c.9185T>G (p.Val3062Gly)
NM_001009944.3(PKD1):c.9199C>T (p.Pro3067Ser) rs1211697062
NM_001009944.3(PKD1):c.9201+5G>A
NM_001009944.3(PKD1):c.9377C>T (p.Thr3126Ile) rs1567173560
NM_001009944.3(PKD1):c.9451C>T (p.His3151Tyr)
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp)
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204
NM_001009944.3(PKD1):c.9527T>A (p.Leu3176Gln)
NM_001009944.3(PKD1):c.9788G>C (p.Trp3263Ser) rs1555449378
NM_001009944.3(PKD1):c.9815G>A (p.Arg3272His) rs1452116333
NM_001009944.3(PKD1):c.9841G>A (p.Ala3281Thr) rs1210319842
NM_001009944.3(PKD1):c.9853G>A (p.Val3285Ile)
NM_001009944.3(PKD1):c.9925A>C (p.Thr3309Pro)

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