ClinVar Miner

List of variants in gene PKHD1 reported by Invitae

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Gene type:
ClinVar version:
Total variants: 249
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HGVS dbSNP
NC_000006.11:g.(?_51497343)_(51512936_?)del
NC_000006.11:g.(?_51824658)_(51875267_?)del
NM_138694.3(PKHD1):c.11174_11175-4798del
NM_138694.3(PKHD1):c.8108-?_8173+?del
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764
NM_138694.4(PKHD1):c.10126del (p.Ala3376fs)
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) rs201082169
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val)
NM_138694.4(PKHD1):c.10250G>A (p.Ser3417Asn)
NM_138694.4(PKHD1):c.10402A>G (p.Ile3468Val)
NM_138694.4(PKHD1):c.10443del (p.Leu3481fs) rs1554183559
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) rs771623148
NM_138694.4(PKHD1):c.10463A>G (p.Asn3488Ser)
NM_138694.4(PKHD1):c.10469G>C (p.Ser3490Thr)
NM_138694.4(PKHD1):c.10481T>C (p.Leu3494Pro) rs1554183514
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg) rs139014478
NM_138694.4(PKHD1):c.10556T>C (p.Leu3519Pro) rs769773637
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792
NM_138694.4(PKHD1):c.10628T>C (p.Leu3543Ser) rs1554183398
NM_138694.4(PKHD1):c.1063G>T (p.Val355Phe) rs864622679
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.10831A>C (p.Ile3611Leu) rs1298906012
NM_138694.4(PKHD1):c.10858C>T (p.Arg3620Cys)
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His) rs149163661
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys) rs141349745
NM_138694.4(PKHD1):c.10973T>C (p.Ile3658Thr) rs142536551
NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu)
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr) rs557211301
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter) rs199839578
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser) rs41273722
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=) rs17667728
NM_138694.4(PKHD1):c.11398+2T>C
NM_138694.4(PKHD1):c.11399G>A (p.Gly3800Glu) rs1554169587
NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=) rs149427926
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe)
NM_138694.4(PKHD1):c.11478C>G (p.His3826Gln)
NM_138694.4(PKHD1):c.11509G>A (p.Val3837Ile) rs9474034
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu) rs76572975
NM_138694.4(PKHD1):c.11612G>A (p.Trp3871Ter) rs1554167673
NM_138694.4(PKHD1):c.11665+1G>A rs759851475
NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn) rs2661488
NM_138694.4(PKHD1):c.11738G>A (p.Arg3913His) rs2661487
NM_138694.4(PKHD1):c.11768A>G (p.Asp3923Gly) rs1561981487
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile) rs149111536
NM_138694.4(PKHD1):c.11863G>T (p.Val3955Phe) rs769223833
NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile) rs34548196
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508
NM_138694.4(PKHD1):c.11883A>G (p.Arg3961=) rs1165946143
NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter) rs1554229312
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn)
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp) rs201210830
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro) rs199900211
NM_138694.4(PKHD1):c.1234-10_1234-9delinsAC rs1554217929
NM_138694.4(PKHD1):c.1234-5C>T rs116124750
NM_138694.4(PKHD1):c.143G>A (p.Gly48Asp)
NM_138694.4(PKHD1):c.1462C>T (p.Arg488Trp)
NM_138694.4(PKHD1):c.1463G>C (p.Arg488Pro)
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) rs754392766
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) rs141790557
NM_138694.4(PKHD1):c.1717G>T (p.Gly573Trp) rs143867809
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg) rs117122807
NM_138694.4(PKHD1):c.1940G>A (p.Ser647Asn) rs1554214687
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His) rs200497761
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643
NM_138694.4(PKHD1):c.208C>T (p.Pro70Ser) rs781485593
NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met) rs140608845
NM_138694.4(PKHD1):c.2176_2177delinsT (p.Gly726fs)
NM_138694.4(PKHD1):c.217C>T (p.Arg73Trp) rs567357782
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val) rs141622697
NM_138694.4(PKHD1):c.2269A>G (p.Ile757Val) rs777183511
NM_138694.4(PKHD1):c.2291C>T (p.Thr764Ile)
NM_138694.4(PKHD1):c.2310dup (p.Ser771fs)
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro) rs750588859
NM_138694.4(PKHD1):c.2445G>T (p.Gln815His) rs775446499
NM_138694.4(PKHD1):c.2483A>G (p.Tyr828Cys)
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593
NM_138694.4(PKHD1):c.2626G>C (p.Ala876Pro)
NM_138694.4(PKHD1):c.2639G>A (p.Arg880His) rs886042298
NM_138694.4(PKHD1):c.2697T>A (p.Thr899=) rs1562217633
NM_138694.4(PKHD1):c.2702A>C (p.Asn901Thr)
NM_138694.4(PKHD1):c.2715+7del rs551015414
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) rs727504089
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln) rs201753421
NM_138694.4(PKHD1):c.281+3A>G rs79803080
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter) rs1344820986
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340
NM_138694.4(PKHD1):c.2981G>A (p.Arg994Gln) rs753169961
NM_138694.4(PKHD1):c.3288T>C (p.Leu1096=) rs751889282
NM_138694.4(PKHD1):c.3313del (p.Ser1105fs) rs1057516922
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser) rs142107837
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726
NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter) rs1554200780
NM_138694.4(PKHD1):c.3481G>C (p.Glu1161Gln) rs878855202
NM_138694.4(PKHD1):c.3536A>G (p.Asn1179Ser) rs747233443
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser) rs2499481
NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter) rs727504096
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp) rs748540413
NM_138694.4(PKHD1):c.3756G>C (p.Leu1252=) rs9689306
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138694.4(PKHD1):c.377G>A (p.Ser126Asn)
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=) rs201769990
NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys) rs144042993
NM_138694.4(PKHD1):c.3876C>T (p.Thr1292=) rs2499482
NM_138694.4(PKHD1):c.3890C>T (p.Ala1297Val) rs747436583
NM_138694.4(PKHD1):c.390+1G>T rs752327566
NM_138694.4(PKHD1):c.390+1del rs1554227162
NM_138694.4(PKHD1):c.3904G>A (p.Val1302Ile) rs141972092
NM_138694.4(PKHD1):c.3984C>T (p.Val1328=) rs182468850
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=) rs140791735
NM_138694.4(PKHD1):c.4105C>T (p.Arg1369Cys) rs368974211
NM_138694.4(PKHD1):c.4141del (p.Val1381fs) rs778537772
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) rs191201723
NM_138694.4(PKHD1):c.4204T>C (p.Cys1402Arg)
NM_138694.4(PKHD1):c.4217T>C (p.Ile1406Thr) rs1562166222
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys)
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr) rs753307105
NM_138694.4(PKHD1):c.4295del (p.Val1432fs) rs1246693314
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571
NM_138694.4(PKHD1):c.4352_4356delinsAAGGGGTCA (p.Pro1451fs) rs1554198780
NM_138694.4(PKHD1):c.4353C>A (p.Pro1451=) rs776581612
NM_138694.4(PKHD1):c.449-15TTC[2] rs545812620
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer)
NM_138694.4(PKHD1):c.4503T>G (p.Thr1501=) rs1554198630
NM_138694.4(PKHD1):c.4505T>A (p.Val1502Glu)
NM_138694.4(PKHD1):c.470G>A (p.Gly157Asp)
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.4(PKHD1):c.4920A>G (p.Val1640=) rs142465959
NM_138694.4(PKHD1):c.4973C>T (p.Pro1658Leu) rs1554198203
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr) rs794727566
NM_138694.4(PKHD1):c.5090G>A (p.Gly1697Asp) rs752432638
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) rs45517932
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu) rs749294509
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838
NM_138694.4(PKHD1):c.5146G>T (p.Val1716Phe) rs751058491
NM_138694.4(PKHD1):c.5199C>A (p.Thr1733=) rs148790132
NM_138694.4(PKHD1):c.5226G>A (p.Thr1742=) rs747933439
NM_138694.4(PKHD1):c.5235C>T (p.Phe1745=) rs187667255
NM_138694.4(PKHD1):c.5358C>T (p.Ser1786=) rs78543922
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs) rs1554194574
NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter) rs1554194511
NM_138694.4(PKHD1):c.544G>A (p.Ala182Thr) rs142346881
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) rs137925439
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys) rs777999875
NM_138694.4(PKHD1):c.5587G>T (p.Gly1863Cys) rs776275341
NM_138694.4(PKHD1):c.5642C>A (p.Ser1881Tyr) rs864622533
NM_138694.4(PKHD1):c.5665del (p.Glu1889fs)
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476
NM_138694.4(PKHD1):c.5751+1G>A
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) rs746838237
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923
NM_138694.4(PKHD1):c.5953del (p.Ala1985fs) rs1561921358
NM_138694.4(PKHD1):c.5984A>G (p.Glu1995Gly) rs1554144359
NM_138694.4(PKHD1):c.6029del (p.Gln2010fs) rs1561920869
NM_138694.4(PKHD1):c.6038T>C (p.Leu2013Pro) rs1554144276
NM_138694.4(PKHD1):c.6149G>C (p.Cys2050Ser)
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys) rs368263958
NM_138694.4(PKHD1):c.6507_6511del (p.Cys2169_Tyr2171delinsTer)
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) rs149522482
NM_138694.4(PKHD1):c.6646C>T (p.His2216Tyr) rs1459248210
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690
NM_138694.4(PKHD1):c.6683-3C>T rs1554300531
NM_138694.4(PKHD1):c.6741C>G (p.Cys2247Trp)
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=) rs34796823
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=) rs140065359
NM_138694.4(PKHD1):c.6809-2A>T
NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA rs1562581286
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe) rs751084512
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145
NM_138694.4(PKHD1):c.6996+9T>A rs878855203
NM_138694.4(PKHD1):c.6996G>A (p.Glu2332=) rs775831255
NM_138694.4(PKHD1):c.7024G>A (p.Gly2342Ser) rs1554290169
NM_138694.4(PKHD1):c.7110-7T>A rs113034899
NM_138694.4(PKHD1):c.711A>T (p.Ser237=) rs138184195
NM_138694.4(PKHD1):c.711_714del (p.Met238fs) rs786204588
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.7298A>T (p.Asp2433Val) rs76895755
NM_138694.4(PKHD1):c.733C>T (p.Leu245=) rs111809699
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys) rs1366295189
NM_138694.4(PKHD1):c.7560dup (p.Ala2521fs) rs863224528
NM_138694.4(PKHD1):c.7673G>A (p.Arg2558Gln)
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816
NM_138694.4(PKHD1):c.7726A>G (p.Ile2576Val) rs565528098
NM_138694.4(PKHD1):c.7736C>T (p.Ala2579Val) rs78361537
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser) rs200204857
NM_138694.4(PKHD1):c.7811_7827del (p.Arg2604fs)
NM_138694.4(PKHD1):c.7888del (p.Leu2630fs)
NM_138694.4(PKHD1):c.7911+5C>A rs199953233
NM_138694.4(PKHD1):c.7912-5T>G rs371510537
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser) rs139555370
NM_138694.4(PKHD1):c.7973_7977del (p.Leu2658fs)
NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter) rs137852947
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616
NM_138694.4(PKHD1):c.8174-18dup rs566540835
NM_138694.4(PKHD1):c.8190del (p.Glu2731fs) rs886042676
NM_138694.4(PKHD1):c.8207G>C (p.Trp2736Ser) rs1562410452
NM_138694.4(PKHD1):c.8270C>G (p.Pro2757Arg) rs1554263087
NM_138694.4(PKHD1):c.8303-1G>A rs786204241
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) rs398124497
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748
NM_138694.4(PKHD1):c.8648_8650TAG[1] (p.Val2884del) rs1554221478
NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=) rs116098879
NM_138694.4(PKHD1):c.8677dup (p.His2893fs) rs1554221465
NM_138694.4(PKHD1):c.8837T>C (p.Leu2946Ser)
NM_138694.4(PKHD1):c.8848G>A (p.Val2950Ile)
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr) rs760222236
NM_138694.4(PKHD1):c.888A>T (p.Pro296=) rs76012218
NM_138694.4(PKHD1):c.889T>C (p.Cys297Arg) rs1231976944
NM_138694.4(PKHD1):c.9003C>G (p.Tyr3001Ter)
NM_138694.4(PKHD1):c.9163G>T (p.Gly3055Cys) rs1060501355
NM_138694.4(PKHD1):c.9262G>A (p.Asp3088Asn) rs201066635
NM_138694.4(PKHD1):c.930del (p.Thr311fs) rs398124501
NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=) rs183674012
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=) rs143737660
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297
NM_138694.4(PKHD1):c.9469_9470delinsAA (p.Ala3157Asn) rs878855204
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261
NM_138694.4(PKHD1):c.9546A>G (p.Val3182=) rs758820099
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile) rs145651593
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr)
NM_138694.4(PKHD1):c.9646C>T (p.Gln3216Ter) rs758732107
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs) rs398124502
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu) rs146649803
NM_138694.4(PKHD1):c.9723dup (p.Gly3242fs)
NM_138694.4(PKHD1):c.9725G>C (p.Gly3242Ala) rs886044327
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val) rs778329699
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala) rs146519878
NM_138694.4(PKHD1):c.9829+10T>G rs143526199
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323
NM_138694.4(PKHD1):c.9877G>A (p.Asp3293Asn) rs1060501356
NM_138694.4(PKHD1):c.9923C>G (p.Pro3308Arg)
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr) rs1057524563

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