ClinVar Miner

List of variants in gene PKHD1 reported as likely pathogenic by Baylor Genetics

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Gene type:
ClinVar version:
Total variants: 228
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.10412T>G (p.Val3471Gly) rs137852950 0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210 0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851 0.00004
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val) rs777976050 0.00004
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903 0.00004
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr) rs753307105 0.00004
NM_138694.4(PKHD1):c.5750A>G (p.Gln1917Arg) rs1412045164 0.00004
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=) rs776060304 0.00004
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501 0.00003
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg) rs754626014 0.00003
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln) rs770494581 0.00003
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593 0.00002
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) rs191201723 0.00002
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe) rs367970695 0.00002
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys) rs777999875 0.00002
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro) rs748196998 0.00002
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) rs398124497 0.00002
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) rs893497345 0.00002
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg) rs777377414 0.00001
NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr) rs1229349983 0.00001
NM_138694.4(PKHD1):c.11399-1G>A rs1183281205 0.00001
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter) rs761704401 0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_138694.4(PKHD1):c.1510C>T (p.Gln504Ter) rs759322460 0.00001
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) rs794727366 0.00001
NM_138694.4(PKHD1):c.2344C>T (p.Gln782Ter) rs371928571 0.00001
NM_138694.4(PKHD1):c.2702A>C (p.Asn901Thr) rs764696718 0.00001
NM_138694.4(PKHD1):c.2821+2T>C rs1394431107 0.00001
NM_138694.4(PKHD1):c.3383T>C (p.Ile1128Thr) rs78624439 0.00001
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp) rs748540413 0.00001
NM_138694.4(PKHD1):c.53-1G>A rs775511838 0.00001
NM_138694.4(PKHD1):c.603-2A>G rs757521428 0.00001
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys) rs1413693039 0.00001
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser) rs749454235 0.00001
NM_138694.4(PKHD1):c.6808+1G>T rs1217968843 0.00001
NM_138694.4(PKHD1):c.7194G>A (p.Trp2398Ter) rs794727680 0.00001
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr) rs398124492 0.00001
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816 0.00001
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616 0.00001
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly) rs764880309 0.00001
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128 0.00001
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys) rs794727759 0.00001
NM_138694.4(PKHD1):c.9146A>G (p.His3049Arg) rs367678592 0.00001
NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter) rs757946548 0.00001
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs) rs1057517071
NM_138694.4(PKHD1):c.10124_10125del (p.Glu3375fs)
NM_138694.4(PKHD1):c.10137_10152del (p.Ala3380fs)
NM_138694.4(PKHD1):c.10265G>A (p.Trp3422Ter)
NM_138694.4(PKHD1):c.10315G>T (p.Asp3439Tyr)
NM_138694.4(PKHD1):c.10384_10385del (p.Ile3462fs)
NM_138694.4(PKHD1):c.10399C>T (p.Gln3467Ter)
NM_138694.4(PKHD1):c.1048_1049dup (p.Arg351fs)
NM_138694.4(PKHD1):c.10648del (p.Glu3550fs)
NM_138694.4(PKHD1):c.10722dup (p.Gly3575fs)
NM_138694.4(PKHD1):c.10727G>A (p.Trp3576Ter) rs2150413999
NM_138694.4(PKHD1):c.10852del (p.Arg3618fs) rs1554183240
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs) rs1562040783
NM_138694.4(PKHD1):c.10957_10958insG (p.Met3653fs) rs1772389754
NM_138694.4(PKHD1):c.11281C>T (p.Gln3761Ter) rs1020902474
NM_138694.4(PKHD1):c.11310+1G>C rs1365407882
NM_138694.4(PKHD1):c.11352G>A (p.Trp3784Ter)
NM_138694.4(PKHD1):c.11387C>A (p.Ser3796Ter)
NM_138694.4(PKHD1):c.11403C>A (p.Cys3801Ter) rs1215290114
NM_138694.4(PKHD1):c.11456del (p.Val3818_Leu3819insTer)
NM_138694.4(PKHD1):c.11666-2A>G
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) rs760426769
NM_138694.4(PKHD1):c.11770del (p.Thr3924fs)
NM_138694.4(PKHD1):c.11785+1_11785+35del rs761547193
NM_138694.4(PKHD1):c.1189C>T (p.Gln397Ter)
NM_138694.4(PKHD1):c.1199T>C (p.Leu400Ser)
NM_138694.4(PKHD1):c.1338del (p.Leu447fs) rs1582013246
NM_138694.4(PKHD1):c.1396G>A (p.Gly466Arg)
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala) rs750730042
NM_138694.4(PKHD1):c.1474C>T (p.Gln492Ter)
NM_138694.4(PKHD1):c.1492del (p.Gln498fs)
NM_138694.4(PKHD1):c.1497del (p.Arg499fs)
NM_138694.4(PKHD1):c.1554G>A (p.Trp518Ter) rs1582002018
NM_138694.4(PKHD1):c.1616T>C (p.Ile539Thr)
NM_138694.4(PKHD1):c.1617del (p.Ile539fs)
NM_138694.4(PKHD1):c.1626del (p.Leu542fs)
NM_138694.4(PKHD1):c.1693+2T>C
NM_138694.4(PKHD1):c.1699G>T (p.Glu567Ter) rs1581992845
NM_138694.4(PKHD1):c.1700_1704dup (p.Ser569fs)
NM_138694.4(PKHD1):c.1836+1G>A rs780898021
NM_138694.4(PKHD1):c.1856del (p.Gly619fs) rs1807328375
NM_138694.4(PKHD1):c.1954_1957dup (p.Pro653fs)
NM_138694.4(PKHD1):c.1964+2T>C
NM_138694.4(PKHD1):c.1965-1G>T
NM_138694.4(PKHD1):c.2017del (p.Asp673fs) rs1581974348
NM_138694.4(PKHD1):c.2171C>G (p.Pro724Arg)
NM_138694.4(PKHD1):c.2177dup (p.Asn727fs) rs2128196889
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu) rs1057517158
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.2299_2306delinsTCTG (p.Thr767fs) rs1064796287
NM_138694.4(PKHD1):c.2532C>G (p.Tyr844Ter)
NM_138694.4(PKHD1):c.257del (p.Leu86fs)
NM_138694.4(PKHD1):c.2592+1G>C rs758812102
NM_138694.4(PKHD1):c.2648_2649del (p.Val882_Tyr883insTer)
NM_138694.4(PKHD1):c.2681del (p.Gly894fs)
NM_138694.4(PKHD1):c.2715+1G>A
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.2799_2809del (p.His934fs)
NM_138694.4(PKHD1):c.281+1G>A rs1582154630
NM_138694.4(PKHD1):c.281+2T>G
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs) rs1057517394
NM_138694.4(PKHD1):c.282-1G>T
NM_138694.4(PKHD1):c.282-2A>T rs1554227278
NM_138694.4(PKHD1):c.2822-1G>C rs1554208257
NM_138694.4(PKHD1):c.2946del (p.Cys983fs) rs1581910835
NM_138694.4(PKHD1):c.3062del (p.Leu1021fs)
NM_138694.4(PKHD1):c.3302del (p.Thr1101fs) rs774250209
NM_138694.4(PKHD1):c.3363_3364insATATA (p.Gly1122delinsIleTer)
NM_138694.4(PKHD1):c.3364+1G>T
NM_138694.4(PKHD1):c.3365-3C>T rs2128153381
NM_138694.4(PKHD1):c.3421del (p.Val1141fs)
NM_138694.4(PKHD1):c.3518del (p.Arg1173fs) rs2128152615
NM_138694.4(PKHD1):c.3548_3557del (p.Ile1183fs)
NM_138694.4(PKHD1):c.3560+1G>T
NM_138694.4(PKHD1):c.3577C>T (p.Gln1193Ter)
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs) rs1057516762
NM_138694.4(PKHD1):c.3830_3843dup (p.Pro1282fs)
NM_138694.4(PKHD1):c.3864dup (p.Lys1289fs)
NM_138694.4(PKHD1):c.4005del (p.Cys1336fs) rs1802073525
NM_138694.4(PKHD1):c.4005delinsGGA (p.Asn1335fs)
NM_138694.4(PKHD1):c.407dup (p.Pro137fs)
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs) rs752305132
NM_138694.4(PKHD1):c.4141del (p.Val1381fs) rs778537772
NM_138694.4(PKHD1):c.4147C>T (p.Gln1383Ter) rs1226122841
NM_138694.4(PKHD1):c.421del (p.Gln141fs)
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg) rs1464962854
NM_138694.4(PKHD1):c.4274T>G (p.Leu1425Arg)
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer) rs1581806935
NM_138694.4(PKHD1):c.5353T>C (p.Phe1785Leu)
NM_138694.4(PKHD1):c.5380+1G>C
NM_138694.4(PKHD1):c.538_542delinsC (p.Leu180fs)
NM_138694.4(PKHD1):c.5416G>T (p.Glu1806Ter)
NM_138694.4(PKHD1):c.5441dup (p.His1814fs) rs908880474
NM_138694.4(PKHD1):c.5600+1G>A rs1581763359
NM_138694.4(PKHD1):c.5609T>A (p.Leu1870Ter)
NM_138694.4(PKHD1):c.5611G>T (p.Glu1871Ter)
NM_138694.4(PKHD1):c.5624T>G (p.Val1875Gly)
NM_138694.4(PKHD1):c.5699_5706del (p.Pro1900fs)
NM_138694.4(PKHD1):c.5751+2T>G
NM_138694.4(PKHD1):c.5783G>A (p.Trp1928Ter)
NM_138694.4(PKHD1):c.5799del (p.Trp1934fs)
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs) rs771180444
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg) rs1583446897
NM_138694.4(PKHD1):c.5993T>C (p.Ile1998Thr) rs1210348558
NM_138694.4(PKHD1):c.602+5G>A
NM_138694.4(PKHD1):c.6054C>G (p.Tyr2018Ter)
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs) rs1057516804
NM_138694.4(PKHD1):c.6116T>C (p.Leu2039Pro)
NM_138694.4(PKHD1):c.6125C>A (p.Ser2042Ter)
NM_138694.4(PKHD1):c.6273_6285delinsGAG (p.Glu2092fs)
NM_138694.4(PKHD1):c.6285del (p.Val2096fs)
NM_138694.4(PKHD1):c.6312_6313del (p.Tyr2105fs)
NM_138694.4(PKHD1):c.6332+1G>A
NM_138694.4(PKHD1):c.6390del (p.Thr2131fs) rs1783005266
NM_138694.4(PKHD1):c.664A>C (p.Ile222Leu) rs369925690
NM_138694.4(PKHD1):c.6667_6668delinsTGA (p.Val2223Ter)
NM_138694.4(PKHD1):c.6683-2A>G
NM_138694.4(PKHD1):c.6702C>A (p.Cys2234Ter)
NM_138694.4(PKHD1):c.6809-2A>T rs1340926191
NM_138694.4(PKHD1):c.6861del (p.Asp2288fs) rs760921148
NM_138694.4(PKHD1):c.6865+2T>C
NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA rs1562581286
NM_138694.4(PKHD1):c.6870G>A (p.Trp2290Ter)
NM_138694.4(PKHD1):c.7005_7006del (p.Arg2335fs)
NM_138694.4(PKHD1):c.700A>T (p.Lys234Ter)
NM_138694.4(PKHD1):c.7084C>T (p.Gln2362Ter) rs1057516221
NM_138694.4(PKHD1):c.7108del (p.Arg2370fs)
NM_138694.4(PKHD1):c.7109+2T>A
NM_138694.4(PKHD1):c.7109+3A>C rs1583202788
NM_138694.4(PKHD1):c.7128C>G (p.Tyr2376Ter)
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.7300del (p.Ala2434fs)
NM_138694.4(PKHD1):c.7350+1G>T rs1057516588
NM_138694.4(PKHD1):c.7466C>G (p.Ser2489Ter)
NM_138694.4(PKHD1):c.7486G>A (p.Gly2496Ser)
NM_138694.4(PKHD1):c.7636del (p.Leu2546fs) rs1775351921
NM_138694.4(PKHD1):c.7721dup (p.Met2574fs)
NM_138694.4(PKHD1):c.7733+1G>C
NM_138694.4(PKHD1):c.7758T>A (p.Tyr2586Ter)
NM_138694.4(PKHD1):c.778+1G>C rs753471298
NM_138694.4(PKHD1):c.7893dup (p.Ile2632fs)
NM_138694.4(PKHD1):c.7929del (p.Asp2643fs)
NM_138694.4(PKHD1):c.792_793del (p.Phe265fs)
NM_138694.4(PKHD1):c.7973_7977del (p.Leu2658fs) rs1583013487
NM_138694.4(PKHD1):c.8012G>C (p.Arg2671Pro) rs778592523
NM_138694.4(PKHD1):c.8151del (p.Gly2718fs) rs1769233531
NM_138694.4(PKHD1):c.8174-2A>T rs1582925274
NM_138694.4(PKHD1):c.8190del (p.Glu2731fs) rs886042676
NM_138694.4(PKHD1):c.8195C>G (p.Ser2732Ter) rs2151512212
NM_138694.4(PKHD1):c.8352T>A (p.Tyr2784Ter)
NM_138694.4(PKHD1):c.852dup (p.Asp285Ter) rs2128223990
NM_138694.4(PKHD1):c.8543del (p.Pro2848fs) rs746625317
NM_138694.4(PKHD1):c.8578del (p.Tyr2860fs)
NM_138694.4(PKHD1):c.8604del (p.Ser2867_Trp2868insTer)
NM_138694.4(PKHD1):c.8677dup (p.His2893fs) rs1554221465
NM_138694.4(PKHD1):c.8734_8752del (p.Thr2912fs) rs1582479341
NM_138694.4(PKHD1):c.8764_8765del (p.Arg2922fs) rs749768205
NM_138694.4(PKHD1):c.8856del (p.Leu2952_Leu2953insTer)
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter) rs1582053820
NM_138694.4(PKHD1):c.9003C>A (p.Tyr3001Ter)
NM_138694.4(PKHD1):c.9003C>G (p.Tyr3001Ter) rs775628123
NM_138694.4(PKHD1):c.9005C>A (p.Ser3002Ter)
NM_138694.4(PKHD1):c.9166C>T (p.Gln3056Ter)
NM_138694.4(PKHD1):c.9169del (p.Ala3057fs)
NM_138694.4(PKHD1):c.9230G>A (p.Trp3077Ter) rs1250269841
NM_138694.4(PKHD1):c.9345del (p.Glu3115fs)
NM_138694.4(PKHD1):c.9353G>A (p.Trp3118Ter)
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr) rs1554218666
NM_138694.4(PKHD1):c.954del (p.Arg319fs) rs1809305398
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_138694.4(PKHD1):c.9584_9585del (p.Lys3195fs)
NM_138694.4(PKHD1):c.9653_9654del (p.Lys3218fs)
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu) rs146649803
NM_138694.4(PKHD1):c.977-2A>G
NM_138694.4(PKHD1):c.9830-18_9842del
NM_138694.4(PKHD1):c.9830-1G>A
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter) rs757099749
NM_138694.4(PKHD1):c.9937_9938del (p.Arg3313fs)
NM_138694.4(PKHD1):c.9969del (p.Asn3323fs)
NM_138694.4(PKHD1):c.9974del (p.Phe3325fs)
NM_138694.4(PKHD1):c.9998+1G>T rs1554217691
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr) rs1057524563

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