ClinVar Miner

List of variants in gene PKHD1 reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 214
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.281+297A>G rs6458806 0.99845
NM_138694.4(PKHD1):c.5381-253T>C rs2435321 0.99845
NM_138694.4(PKHD1):c.8950+199T>C rs1326607 0.99156
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=) rs1896976 0.96234
NM_138694.4(PKHD1):c.2279+57A>G rs9395759 0.96175
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val) rs2435322 0.95778
NM_138694.4(PKHD1):c.11665+278A>G rs2784213 0.95049
NM_138694.4(PKHD1):c.7350+302A>G rs6458801 0.90102
NM_138694.4(PKHD1):c.6121+155C>T rs1266888 0.70286
NM_138694.4(PKHD1):c.5909-46A>G rs1266889 0.70194
NM_138694.4(PKHD1):c.10156+22412C>T rs9349593 0.65024
NM_138694.4(PKHD1):c.8108-217C>T rs9474105 0.60763
NM_138694.4(PKHD1):c.8303-217T>C rs4715233 0.57786
NM_138694.4(PKHD1):c.8303-328A>G rs2104521 0.57784
NM_138694.4(PKHD1):c.8303-65C>A rs7765455 0.57777
NM_138694.4(PKHD1):c.8440+231G>A rs6924716 0.57546
NM_138694.4(PKHD1):c.8440+238A>G rs6904634 0.57529
NM_138694.4(PKHD1):c.707+226T>G rs4715276 0.55402
NM_138694.4(PKHD1):c.881-116A>C rs186668459 0.53287
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg) rs9381994 0.52715
NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg) rs4715227 0.52431
NM_138694.4(PKHD1):c.7912-244C>G rs927861 0.50778
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=) rs12210295 0.49949
NM_138694.4(PKHD1):c.881-248C>T rs2163186 0.48123
NM_138694.4(PKHD1):c.5380+180A>C rs2195590 0.46807
NM_138694.4(PKHD1):c.3629-32A>G rs2499480 0.46280
NM_138694.4(PKHD1):c.8302+12T>A rs1571084 0.45597
NM_138694.4(PKHD1):c.8302+89A>T rs1571083 0.45590
NM_138694.4(PKHD1):c.8174-287C>T rs1571086 0.45515
NM_138694.4(PKHD1):c.8173+144G>A rs9474104 0.45513
NM_138694.4(PKHD1):c.8174-269T>C rs1571085 0.45491
NM_138694.4(PKHD1):c.3364+263G>A rs2435331 0.45446
NM_138694.4(PKHD1):c.5600+133G>C rs9349614 0.45063
NM_138694.4(PKHD1):c.282-41A>G rs1892274 0.43840
NM_138694.4(PKHD1):c.-84-47T>C rs9370097 0.43816
NM_138694.4(PKHD1):c.3365-299A>G rs1896971 0.42427
NM_138694.4(PKHD1):c.881-114A>C rs1896985 0.42364
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys) rs9370096 0.41404
NM_138694.4(PKHD1):c.976+277A>C rs4715273 0.41175
NM_138694.4(PKHD1):c.3229-301A>T rs9370093 0.41116
NM_138694.4(PKHD1):c.667+57G>A rs17576809 0.41111
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val) rs9296669 0.41087
NM_138694.4(PKHD1):c.2407+50C>T rs10948667 0.41035
NM_138694.4(PKHD1):c.602+67A>G rs3936986 0.41008
NM_138694.4(PKHD1):c.7215+102T>A rs4711985 0.39765
NM_138694.4(PKHD1):c.7351-176A>G rs2064871 0.39630
NM_138694.4(PKHD1):c.7734-4T>C rs7452724 0.39369
NM_138694.4(PKHD1):c.7733+63C>T rs9382043 0.39367
NM_138694.4(PKHD1):c.7733+33C>T rs9382044 0.39361
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=) rs9349603 0.39323
NM_138694.4(PKHD1):c.11398+122A>G rs2580009 0.38766
NM_138694.4(PKHD1):c.8107+81T>A rs9370067 0.36798
NM_138694.4(PKHD1):c.11666-250A>T rs9370040 0.35328
NM_138694.4(PKHD1):c.7350+368A>G rs9395738 0.33411
NM_138694.4(PKHD1):c.8441-32G>C rs3920621 0.33143
NM_138694.4(PKHD1):c.9998+49A>G rs2397060 0.32325
NM_138694.4(PKHD1):c.707+228G>A rs6903209 0.31250
NM_138694.4(PKHD1):c.10156+202C>T rs1507911 0.30676
NM_138694.4(PKHD1):c.9998+175T>C rs35999523 0.30649
NM_138694.4(PKHD1):c.8643-154C>T rs9395712 0.30610
NM_138694.4(PKHD1):c.8643-185A>G rs9370050 0.30589
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=) rs765525 0.30589
NM_138694.4(PKHD1):c.8643-72C>T rs9370049 0.30583
NM_138694.4(PKHD1):c.8643-236T>C rs9382006 0.30571
NM_138694.4(PKHD1):c.10156+167_10156+168insAA rs3061729 0.30491
NM_138694.4(PKHD1):c.234C>T (p.Asp78=) rs9474143 0.29769
NM_138694.4(PKHD1):c.11666-132A>C rs9474033 0.29708
NM_138694.4(PKHD1):c.977-225A>G rs13198604 0.28079
NM_138694.4(PKHD1):c.880+337A>C rs12529349 0.27511
NM_138694.4(PKHD1):c.527+19T>C rs9474140 0.27509
NM_138694.4(PKHD1):c.11175-187A>G rs12661009 0.27249
NM_138694.4(PKHD1):c.10156+22411G>A rs45451196 0.21949
NM_138694.4(PKHD1):c.8555-124G>A rs6922497 0.19062
NM_138694.4(PKHD1):c.8441-68T>C rs7775050 0.19022
NM_138694.4(PKHD1):c.881-110A>C rs868440105 0.18459
NM_138694.4(PKHD1):c.6121+148A>T rs1884953 0.17801
NM_138694.4(PKHD1):c.6490+62A>G rs12196767 0.14660
NM_138694.4(PKHD1):c.11786-30C>T rs9395699 0.14058
NM_138694.4(PKHD1):c.1234-10T>A rs4715272 0.12902
NM_138694.4(PKHD1):c.1837-290C>T rs2082105 0.11592
NM_138694.4(PKHD1):c.6491-106A>T rs1266871 0.11314
NM_138694.4(PKHD1):c.8797+138C>T rs12661470 0.10173
NM_138694.4(PKHD1):c.8173+101A>T rs55777546 0.09629
NM_138694.4(PKHD1):c.2715+239A>G rs12660652 0.09462
NM_138694.4(PKHD1):c.214C>T (p.Leu72=) rs6901799 0.09338
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=) rs4715271 0.07716
NM_138694.4(PKHD1):c.881-108A>C rs867819307 0.07589
NM_138694.4(PKHD1):c.778+213A>G rs11757861 0.06893
NM_138694.4(PKHD1):c.10521C>T (p.His3507=) rs34460237 0.06613
NM_138694.4(PKHD1):c.977-208A>G rs62406038 0.06526
NM_138694.4(PKHD1):c.11175-169A>G rs9463701 0.06409
NM_138694.4(PKHD1):c.3229-181G>C rs36119731 0.06341
NM_138694.4(PKHD1):c.8643-24A>G rs2766125 0.05514
NM_138694.4(PKHD1):c.8798-19del rs112525785 0.05493
NM_138694.4(PKHD1):c.8174-324G>C rs77294866 0.05409
NM_138694.4(PKHD1):c.8174-49G>C rs12527920 0.05408
NM_138694.4(PKHD1):c.6997-198G>A rs57327960 0.05344
NM_138694.4(PKHD1):c.8108-166A>G rs12525771 0.05324
NM_138694.4(PKHD1):c.8108-195A>G rs12525775 0.05324
NM_138694.4(PKHD1):c.8173+37G>A rs12523900 0.05319
NM_138694.4(PKHD1):c.8108-64G>A rs12523926 0.05318
NM_138694.4(PKHD1):c.8173+112A>G rs12525711 0.05316
NM_138694.4(PKHD1):c.11666-319T>G rs2784205 0.05295
NM_138694.4(PKHD1):c.8302+18A>G rs12529717 0.05228
NM_138694.4(PKHD1):c.448+258A>G rs17638791 0.05041
NM_138694.4(PKHD1):c.602+196G>A rs17638644 0.05036
NM_138694.4(PKHD1):c.527+51G>T rs62406055 0.05032
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=) rs62406036 0.05014
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032 0.05010
NM_138694.4(PKHD1):c.11509G>A (p.Val3837Ile) rs9474034 0.04948
NM_138694.4(PKHD1):c.11399-71G>A rs2661511 0.04846
NM_138694.4(PKHD1):c.11506+76G>A rs2580020 0.04697
NM_138694.4(PKHD1):c.11506+104G>A rs2580021 0.04534
NM_138694.4(PKHD1):c.11785+239G>C rs2784203 0.04509
NM_138694.4(PKHD1):c.11666-255T>C rs2771015 0.04505
NM_138694.4(PKHD1):c.11506+225C>T rs2661512 0.04501
NM_138694.4(PKHD1):c.11399-204A>G rs2661510 0.04500
NM_138694.4(PKHD1):c.11507-21A>G rs2174860 0.04499
NM_138694.4(PKHD1):c.11666-219T>C rs2784204 0.04499
NM_138694.4(PKHD1):c.11506+259A>G rs2784227 0.04498
NM_138694.4(PKHD1):c.11665+217A>T rs2784214 0.04493
NM_138694.4(PKHD1):c.11666-39_11666-38insATAAAAATGTTCTTTTTAT rs377616372 0.04493
NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn) rs2661488 0.04490
NM_138694.4(PKHD1):c.10156+22638T>G rs73442840 0.04109
NM_138694.4(PKHD1):c.3756G>C (p.Leu1252=) rs9689306 0.03897
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923 0.03202
NM_138694.4(PKHD1):c.11786-187G>A rs75914518 0.03135
NM_138694.4(PKHD1):c.2141-321T>C rs73433799 0.03057
NM_138694.4(PKHD1):c.8174-335A>T rs77094816 0.02555
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692 0.02436
NM_138694.4(PKHD1):c.8303-290C>T rs60100099 0.02272
NM_138694.4(PKHD1):c.1694-32C>G rs12196276 0.02096
NM_138694.4(PKHD1):c.1234-39C>G rs115660674 0.02051
NM_138694.4(PKHD1):c.9829+227A>G rs73426017 0.02022
NM_138694.4(PKHD1):c.8950+44A>G rs58823342 0.01939
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653 0.01835
NM_138694.4(PKHD1):c.8108-16G>C rs73442356 0.01832
NM_138694.4(PKHD1):c.527+187A>G rs112184687 0.01764
NM_138694.4(PKHD1):c.1234-5C>T rs116124750 0.01262
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792 0.01187
NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile) rs34548196 0.01161
NM_138694.4(PKHD1):c.7298A>T (p.Asp2433Val) rs76895755 0.01078
NM_138694.4(PKHD1):c.3876C>T (p.Thr1292=) rs2499482 0.01071
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser) rs2499481 0.01066
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748 0.01047
NM_138694.4(PKHD1):c.1233+40G>C rs116995892 0.00928
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_138694.4(PKHD1):c.282-150G>A rs150937703 0.00840
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366 0.00773
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg) rs139014478 0.00721
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492 0.00702
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242 0.00646
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571 0.00632
NM_138694.4(PKHD1):c.10157-32A>G rs188183863 0.00576
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_138694.4(PKHD1):c.9829+10T>G rs143526199 0.00518
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674 0.00340
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser) rs139555370 0.00158
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg) rs117122807 0.00080
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706 0.00073
NM_138694.4(PKHD1):c.1675C>T (p.Arg559Trp) rs141384205 0.00055
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=) rs148335285 0.00052
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu) rs150597050 0.00029
NM_138694.4(PKHD1):c.7873T>C (p.Leu2625=) rs140033417 0.00001
GRCh37/hg19 6p12.3(chr6:51666631-51669392)x1
GRCh37/hg19 6p12.3(chr6:51667324-51669392)x1
GRCh37/hg19 6p12.3(chr6:51667324-51669492)x1
GRCh37/hg19 6p12.3(chr6:51728998-51737987)x0
GRCh37/hg19 6p12.3(chr6:51734163-51736742)x0
GRCh37/hg19 6p12.3(chr6:51736175-51757497)x1
NM_138694.4(PKHD1):c.-84-234ATT[3] rs3062577
NM_138694.4(PKHD1):c.10156+22044C>T rs72899385
NM_138694.4(PKHD1):c.1119-102_1119-100del rs149924869
NM_138694.4(PKHD1):c.11398+66G>C rs2661501
NM_138694.4(PKHD1):c.11506+32_11506+34dup rs376358912
NM_138694.4(PKHD1):c.11506+32dup rs376358912
NM_138694.4(PKHD1):c.11506+49del rs376358912
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu) rs76572975
NM_138694.4(PKHD1):c.11665+40dup rs35521028
NM_138694.4(PKHD1):c.11665+47del rs35521028
NM_138694.4(PKHD1):c.11665+9dup rs373325476
NM_138694.4(PKHD1):c.11666-308dup rs142841800
NM_138694.4(PKHD1):c.11786-235del rs35827057
NM_138694.4(PKHD1):c.1234-206TAGA[10] rs56342114
NM_138694.4(PKHD1):c.1234-206TAGA[11] rs56342114
NM_138694.4(PKHD1):c.1234-206TAGA[6] rs56342114
NM_138694.4(PKHD1):c.1234-206TAGA[8] rs56342114
NM_138694.4(PKHD1):c.2592+56dup rs58370838
NM_138694.4(PKHD1):c.282-195dup rs200536402
NM_138694.4(PKHD1):c.3229-192G>A rs35175045
NM_138694.4(PKHD1):c.3365-183dup rs5876250
NM_138694.4(PKHD1):c.3628+280dup rs1229066296
NM_138694.4(PKHD1):c.3628+296del rs1229066296
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.6865+126AT[11] rs66966800
NM_138694.4(PKHD1):c.6865+126AT[12] rs66966800
NM_138694.4(PKHD1):c.6865+126AT[13] rs66966800
NM_138694.4(PKHD1):c.6865+126AT[15] rs66966800
NM_138694.4(PKHD1):c.707+143A>C rs4711996
NM_138694.4(PKHD1):c.7110-191C>T rs78965888
NM_138694.4(PKHD1):c.7216-175_7216-173del rs66492359
NM_138694.4(PKHD1):c.733C>T (p.Leu245=) rs111809699
NM_138694.4(PKHD1):c.7486+41C>A rs982874
NM_138694.4(PKHD1):c.779-13_779-12del rs5876252
NM_138694.4(PKHD1):c.779-25dup rs5876252
NM_138694.4(PKHD1):c.8174-172G>C rs73442318
NM_138694.4(PKHD1):c.8441-155del rs150000340
NM_138694.4(PKHD1):c.8642+260C>G rs6921856
NM_138694.4(PKHD1):c.881-112A>C rs190167278
NM_138694.4(PKHD1):c.881-119TA[15] rs369093047
NM_138694.4(PKHD1):c.881-135_881-134insTG rs1554220743
NM_138694.4(PKHD1):c.977-220del rs34087510

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