ClinVar Miner

List of variants in gene PKHD1 reported as likely pathogenic for Autosomal recessive polycystic kidney disease

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Gene type:
ClinVar version:
Total variants: 239
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HGVS dbSNP
NM_138694.3(PKHD1):c.11174_11175-4798del
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter) rs398124475
NM_138694.4(PKHD1):c.10036_10045del (p.Cys3346fs) rs1554216571
NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs) rs1554216538
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs) rs1057517071
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs) rs765209037
NM_138694.4(PKHD1):c.10186_10190del (p.Tyr3396fs) rs760260903
NM_138694.4(PKHD1):c.10194del (p.Phe3398_Leu3399insTer) rs1554183763
NM_138694.4(PKHD1):c.10199dup (p.Met3400fs) rs1057517249
NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter) rs765652131
NM_138694.4(PKHD1):c.10411del (p.Val3471fs) rs1554183588
NM_138694.4(PKHD1):c.10418del (p.Phe3473fs) rs1057516835
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) rs771623148
NM_138694.4(PKHD1):c.10461dup (p.Asn3488fs) rs1057517326
NM_138694.4(PKHD1):c.10523dup (p.Phe3509fs) rs1554183480
NM_138694.4(PKHD1):c.10561_10562del (p.Gln3521fs) rs1554183446
NM_138694.4(PKHD1):c.10709C>G (p.Ser3570Ter) rs1057516345
NM_138694.4(PKHD1):c.10735del (p.Ile3578_Val3579insTer) rs1554183320
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter) rs148300854
NM_138694.4(PKHD1):c.10826del (p.Lys3609fs) rs1057516652
NM_138694.4(PKHD1):c.10852del (p.Arg3618fs) rs1554183240
NM_138694.4(PKHD1):c.10891_10892TA[1] (p.Tyr3631_Arg3632delinsTer) rs1554183204
NM_138694.4(PKHD1):c.10955del (p.Pro3652fs) rs765390756
NM_138694.4(PKHD1):c.1095G>A (p.Trp365Ter) rs1554219429
NM_138694.4(PKHD1):c.10972_10973del (p.Ile3658fs) rs1057517047
NM_138694.4(PKHD1):c.11147_11150del (p.Thr3716fs) rs1554183012
NM_138694.4(PKHD1):c.11206_11207AT[3] (p.Ile3738fs) rs1554176517
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501
NM_138694.4(PKHD1):c.11276del (p.Pro3759fs) rs1554176343
NM_138694.4(PKHD1):c.11311-2A>G rs1554174903
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter) rs199839578
NM_138694.4(PKHD1):c.11330del (p.Leu3777fs) rs1554174796
NM_138694.4(PKHD1):c.11398+2T>C
NM_138694.4(PKHD1):c.11438del (p.Phe3813fs) rs1554169567
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter) rs746471701
NM_138694.4(PKHD1):c.1156_1158AAT[1] (p.Asn387del) rs1554218506
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg)
NM_138694.4(PKHD1):c.11665+1G>A rs759851475
NM_138694.4(PKHD1):c.11695C>T (p.Gln3899Ter)
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) rs760426769
NM_138694.4(PKHD1):c.11776del (p.Val3926fs) rs1057517324
NM_138694.4(PKHD1):c.11785+1G>T rs1488844530
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508
NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter) rs1554229312
NM_138694.4(PKHD1):c.1205del (p.Phe402fs) rs1057517178
NM_138694.4(PKHD1):c.12076C>T (p.Gln4026Ter)
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del) rs1554217913
NM_138694.4(PKHD1):c.1338del (p.Leu447fs)
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu) rs750730042
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala) rs750730042
NM_138694.4(PKHD1):c.1409del (p.Gly470fs) rs1057516975
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter) rs786204749
NM_138694.4(PKHD1):c.1472A>C (p.His491Pro) rs886039888
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) rs754392766
NM_138694.4(PKHD1):c.1554G>A (p.Trp518Ter)
NM_138694.4(PKHD1):c.156dup (p.Asn53fs) rs773991918
NM_138694.4(PKHD1):c.1623_1626dup (p.Leu543fs) rs1554216499
NM_138694.4(PKHD1):c.1699G>T (p.Glu567Ter)
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter) rs779050294
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) rs749293235
NM_138694.4(PKHD1):c.2017del (p.Asp673fs)
NM_138694.4(PKHD1):c.2140+1G>C rs1554213853
NM_138694.4(PKHD1):c.2140+1G>T rs1554213853
NM_138694.4(PKHD1):c.2141-2A>C rs1554212403
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs) rs1554212326
NM_138694.4(PKHD1):c.2192C>A (p.Ser731Ter) rs1057516608
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210
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.2279G>A (p.Arg760His) rs745770404
NM_138694.4(PKHD1):c.2346_2352del (p.Arg783fs) rs1554211308
NM_138694.4(PKHD1):c.2408-2A>G rs1554210085
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593
NM_138694.4(PKHD1):c.2524A>C (p.Thr842Pro)
NM_138694.4(PKHD1):c.2590del (p.Arg864fs) rs1057516709
NM_138694.4(PKHD1):c.2715+1G>C rs1554209188
NM_138694.4(PKHD1):c.2715+2_2715+14del rs1057516562
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) rs727504089
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) rs786204707
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter) rs1344820986
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs) rs1057517394
NM_138694.4(PKHD1):c.282-2A>T rs1554227278
NM_138694.4(PKHD1):c.2822-1G>C rs1554208257
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605
NM_138694.4(PKHD1):c.2854G>C (p.Gly952Arg) rs773136605
NM_138694.4(PKHD1):c.2946del (p.Cys983fs)
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp) rs757854282
NM_138694.4(PKHD1):c.3097+2T>C rs1554207834
NM_138694.4(PKHD1):c.3158_3159del (p.Gly1053fs) rs1554204054
NM_138694.4(PKHD1):c.3228+1G>C rs868673401
NM_138694.4(PKHD1):c.3228+1G>T rs868673401
NM_138694.4(PKHD1):c.3229-2A>C rs1057516872
NM_138694.4(PKHD1):c.3229-2del rs1057516283
NM_138694.4(PKHD1):c.3302del (p.Thr1101fs) rs774250209
NM_138694.4(PKHD1):c.3313del (p.Ser1105fs) rs1057516922
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser) rs142107837
NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter) rs1554227215
NM_138694.4(PKHD1):c.3457_3458CA[5] (p.Gln1155fs) rs1554200778
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)
NM_138694.4(PKHD1):c.3474G>A (p.Trp1158Ter) rs886061619
NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs) rs797044713
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483
NM_138694.4(PKHD1):c.3561-2A>G rs1057516982
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs) rs1057516762
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.3814_3844del (p.Trp1272fs) rs1554199349
NM_138694.4(PKHD1):c.390+1G>T rs752327566
NM_138694.4(PKHD1):c.390+1del rs1554227162
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs) rs1057517273
NM_138694.4(PKHD1):c.3943del (p.Ser1314_Leu1315insTer) rs1554199226
NM_138694.4(PKHD1):c.4121del (p.Gly1374fs) rs1057516594
NM_138694.4(PKHD1):c.4141del (p.Val1381fs) rs778537772
NM_138694.4(PKHD1):c.4147C>T (p.Gln1383Ter)
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu)
NM_138694.4(PKHD1):c.4220T>G (p.Leu1407Arg)
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr) rs753307105
NM_138694.4(PKHD1):c.448+2T>C rs1057517270
NM_138694.4(PKHD1):c.4557del (p.Phe1519fs) rs1057516382
NM_138694.4(PKHD1):c.4574del (p.Pro1525fs) rs1057516691
NM_138694.4(PKHD1):c.4593dup (p.Asn1532Ter) rs1057516263
NM_138694.4(PKHD1):c.468del (p.Val155_Tyr156insTer) rs1554224707
NM_138694.4(PKHD1):c.4733del (p.Tyr1578fs) rs727504087
NM_138694.4(PKHD1):c.4820_4821AT[1] (p.Tyr1607_Ile1608insTer) rs1057516626
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala) rs267601070
NM_138694.4(PKHD1):c.4890del (p.Asn1631fs) rs1057516885
NM_138694.4(PKHD1):c.4_7del (p.Thr2fs) rs1057517220
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr) rs794727566
NM_138694.4(PKHD1):c.5065del (p.Met1689fs) rs1554198072
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946
NM_138694.4(PKHD1):c.5236+1G>A rs398124487
NM_138694.4(PKHD1):c.5237-2A>C rs1554197152
NM_138694.4(PKHD1):c.527+1del rs1057516697
NM_138694.4(PKHD1):c.53-1G>A rs775511838
NM_138694.4(PKHD1):c.53-2A>G rs1554228601
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs) rs1554194574
NM_138694.4(PKHD1):c.5441dup (p.His1814fs)
NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter) rs1554194511
NM_138694.4(PKHD1):c.5452C>T (p.Gln1818Ter) rs1057516692
NM_138694.4(PKHD1):c.5455_5456TG[1] (p.Cys1819_Asp1820delinsTer) rs1554194504
NM_138694.4(PKHD1):c.5464del (p.Thr1822fs) rs1562140771
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter) rs774759689
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys) rs777999875
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys) rs913487671
NM_138694.4(PKHD1):c.5688_5691dup (p.Asn1898fs) rs1554191298
NM_138694.4(PKHD1):c.5750A>G (p.Gln1917Arg)
NM_138694.4(PKHD1):c.5751+1G>A rs775638588
NM_138694.4(PKHD1):c.5752-2A>G rs1057516407
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081
NM_138694.4(PKHD1):c.5877_5878CA[1] (p.Thr1960fs) rs771180444
NM_138694.4(PKHD1):c.5895_5896insAC (p.Leu1966fs) rs1554162725
NM_138694.4(PKHD1):c.5909-2del rs1334913120
NM_138694.4(PKHD1):c.603-1G>A rs1554223403
NM_138694.4(PKHD1):c.603-2A>G rs757521428
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs) rs1057516804
NM_138694.4(PKHD1):c.6122-3_6122-1delinsA rs1057517378
NM_138694.4(PKHD1):c.6294_6295TG[1] (p.Val2099fs) rs910497248
NM_138694.4(PKHD1):c.6300_6316del (p.Gln2100fs) rs1554134080
NM_138694.4(PKHD1):c.645C>A (p.Cys215Ter) rs557437764
NM_138694.4(PKHD1):c.6490+1G>A rs1554133736
NM_138694.4(PKHD1):c.6491-1G>A rs1554132790
NM_138694.4(PKHD1):c.6526A>T (p.Lys2176Ter) rs1057516706
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys) rs1554223332
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser)
NM_138694.4(PKHD1):c.6809-2A>G rs1340926191
NM_138694.4(PKHD1):c.6809-2A>T
NM_138694.4(PKHD1):c.6861del (p.Asp2288fs) rs760921148
NM_138694.4(PKHD1):c.6866-16_6866del rs1554299291
NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA rs1562581286
NM_138694.4(PKHD1):c.6910C>T (p.Gln2304Ter) rs1057516441
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145
NM_138694.4(PKHD1):c.707+1G>A rs748365248
NM_138694.4(PKHD1):c.707+2T>C rs1554222939
NM_138694.4(PKHD1):c.708-1G>A rs1554222508
NM_138694.4(PKHD1):c.708-2A>C rs753492974
NM_138694.4(PKHD1):c.7084C>T (p.Gln2362Ter) rs1057516221
NM_138694.4(PKHD1):c.7270del (p.Asp2424fs) rs1057516596
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr) rs398124492
NM_138694.4(PKHD1):c.7350+1G>T rs1057516588
NM_138694.4(PKHD1):c.7350+653A>G rs1240212722
NM_138694.4(PKHD1):c.7486+1G>T rs1554282419
NM_138694.4(PKHD1):c.748C>T (p.Gln250Ter) rs1057516768
NM_138694.4(PKHD1):c.7696G>T (p.Gly2566Ter) rs1057516751
NM_138694.4(PKHD1):c.7713del (p.His2572fs) rs1057517078
NM_138694.4(PKHD1):c.7866del (p.Tyr2623fs) rs1057516690
NM_138694.4(PKHD1):c.7893del (p.Leu2630_Trp2631insTer) rs1057516607
NM_138694.4(PKHD1):c.7912-1G>A rs1160209891
NM_138694.4(PKHD1):c.7912-2A>G rs1554271235
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607
NM_138694.4(PKHD1):c.8050C>T (p.Gln2684Ter) rs1057516490
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616
NM_138694.4(PKHD1):c.8107+1G>C rs1554270880
NM_138694.4(PKHD1):c.8162del (p.Pro2721fs) rs1057516775
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter)
NM_138694.4(PKHD1):c.8285A>T (p.Asp2762Val) rs1554263076
NM_138694.4(PKHD1):c.8303-2A>G rs1554243821
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.8407T>C (p.Cys2803Arg) rs398124495
NM_138694.4(PKHD1):c.8543del (p.Pro2848fs)
NM_138694.4(PKHD1):c.8555-2A>G rs1020621286
NM_138694.4(PKHD1):c.8648_8650TAG[1] (p.Val2884del) rs1554221478
NM_138694.4(PKHD1):c.8677dup (p.His2893fs) rs1554221465
NM_138694.4(PKHD1):c.8734_8752del (p.Thr2912fs)
NM_138694.4(PKHD1):c.8764_8765del (p.Arg2922fs) rs749768205
NM_138694.4(PKHD1):c.881-1G>A rs1554220431
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter) rs398124500
NM_138694.4(PKHD1):c.8832del (p.Arg2945fs) rs1057517244
NM_138694.4(PKHD1):c.8864G>T (p.Arg2955Leu)
NM_138694.4(PKHD1):c.8950+1G>T rs1351918391
NM_138694.4(PKHD1):c.8951G>C (p.Gly2984Ala) rs1057516201
NM_138694.4(PKHD1):c.8958del (p.Gln2987fs) rs1057517387
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter)
NM_138694.4(PKHD1):c.9113del (p.Leu3037_Leu3038insTer) rs1554218926
NM_138694.4(PKHD1):c.930del (p.Thr311fs) rs398124501
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) rs786204688
NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr) rs1554218666
NM_138694.4(PKHD1):c.9470_9473dup (p.Met3158fs) rs1057516413
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261
NM_138694.4(PKHD1):c.9530_9531dup (p.Gly3178fs) rs1554218519
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter) rs1057516445
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter) rs1057516577
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu) rs146649803
NM_138694.4(PKHD1):c.9743del (p.Phe3248fs) rs751754608
NM_138694.4(PKHD1):c.9829+1G>A rs1273202231
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter) rs398124503
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln) rs770494581
NM_138694.4(PKHD1):c.9856_9859dup (p.Cys3287Ter) rs1057517357
NM_138694.4(PKHD1):c.9877G>A (p.Asp3293Asn) rs1060501356
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter) rs757099749
NM_138694.4(PKHD1):c.9998+1G>T rs1554217691
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr) rs1057524563

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