ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 179
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.8798-19A>C rs1326605 0.73187
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=) rs17667728 0.03744
NM_138694.4(PKHD1):c.1118+248A>C rs12206304 0.03403
NM_138694.4(PKHD1):c.528-132C>A rs12208230 0.03397
NM_138694.4(PKHD1):c.881-106A>C rs865857999 0.02813
NM_138694.4(PKHD1):c.449-78C>T rs12154128 0.02392
NM_138694.4(PKHD1):c.-84-60C>T rs12194544 0.02389
NM_138694.4(PKHD1):c.1119-190T>C rs12208725 0.02388
NM_138694.4(PKHD1):c.52+291A>T rs12201239 0.02387
NM_138694.4(PKHD1):c.527+194T>C rs17577001 0.02386
NM_138694.4(PKHD1):c.448+185T>G rs116647738 0.02384
NM_138694.4(PKHD1):c.11507-91A>G rs116369443 0.01733
NM_138694.4(PKHD1):c.668-130A>G rs2163185 0.01655
NM_138694.4(PKHD1):c.8643-204T>C rs77616858 0.01383
NM_138694.4(PKHD1):c.11174+11A>G rs115072237 0.01349
NM_138694.4(PKHD1):c.390+283G>A rs112860581 0.01334
NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=) rs116098879 0.01291
NM_138694.4(PKHD1):c.1234-5C>T rs116124750 0.01262
NM_138694.4(PKHD1):c.778+163C>T rs17638535 0.01240
NM_138694.4(PKHD1):c.52+248A>C rs17577478 0.01239
NM_138694.4(PKHD1):c.1513-298G>A rs116263393 0.01230
NM_138694.4(PKHD1):c.881-249T>C rs532751035 0.01207
NM_138694.4(PKHD1):c.667+260A>T rs73739130 0.01204
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792 0.01187
NM_138694.4(PKHD1):c.6333-164C>G rs143079619 0.01180
NM_138694.4(PKHD1):c.8174-18T>A rs111383080 0.01154
NM_138694.4(PKHD1):c.6683-291T>A rs114954966 0.01152
NM_138694.4(PKHD1):c.1233+163G>A rs12193772 0.01150
NM_138694.4(PKHD1):c.2407+53A>G rs77638522 0.01150
NM_138694.4(PKHD1):c.527+284C>T rs116071709 0.01148
NM_138694.4(PKHD1):c.2715+170G>A rs78563100 0.01147
NM_138694.4(PKHD1):c.2716-327G>A rs114105781 0.01145
NM_138694.4(PKHD1):c.5381-238T>G rs77660392 0.01142
NM_138694.4(PKHD1):c.8440+71A>G rs80047024 0.01111
NM_138694.4(PKHD1):c.7350+433C>A rs78363163 0.01083
NM_138694.4(PKHD1):c.3876C>T (p.Thr1292=) rs2499482 0.01071
NM_138694.4(PKHD1):c.7351-89A>G rs116731295 0.01071
NM_138694.4(PKHD1):c.7350+670T>C rs73444448 0.01068
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748 0.01047
NM_138694.4(PKHD1):c.5752-246C>T rs150626005 0.01035
NM_138694.4(PKHD1):c.1836+202G>A rs73435703 0.01016
NM_138694.4(PKHD1):c.5381-130T>A rs73433743 0.00996
NM_138694.4(PKHD1):c.3629-118G>A rs115086356 0.00964
NM_138694.4(PKHD1):c.391-43T>A rs116414807 0.00920
NM_138694.4(PKHD1):c.888A>T (p.Pro296=) rs76012218 0.00916
NM_138694.4(PKHD1):c.7733+43G>A rs141811489 0.00897
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_138694.4(PKHD1):c.10156+22235C>T rs139293947 0.00869
NM_138694.4(PKHD1):c.1603-28T>C rs73435705 0.00844
NM_138694.4(PKHD1):c.5601-42T>C rs114616694 0.00842
NM_138694.4(PKHD1):c.11506+246C>T rs145699789 0.00775
NM_138694.4(PKHD1):c.7110-62A>G rs76831855 0.00772
NM_138694.4(PKHD1):c.7110-7T>A rs113034899 0.00770
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=) rs140791735 0.00769
NM_138694.4(PKHD1):c.7350+187C>T rs146076610 0.00765
NM_138694.4(PKHD1):c.1965-303A>G rs138466170 0.00740
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg) rs139014478 0.00721
NM_138694.4(PKHD1):c.11666-45C>T rs115992233 0.00688
NM_138694.4(PKHD1):c.8440+161A>G rs190488577 0.00686
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_138694.4(PKHD1):c.881-120C>A rs547070187 0.00669
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.1693+172G>A rs116783183 0.00604
NM_138694.4(PKHD1):c.5601-195G>T rs145021900 0.00599
NM_138694.4(PKHD1):c.7487-209A>G rs114783394 0.00576
NM_138694.4(PKHD1):c.2279+13T>G rs188914598 0.00572
NM_138694.4(PKHD1):c.8951-162A>G rs116095491 0.00562
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_138694.4(PKHD1):c.2407+42T>G rs78918693 0.00539
NM_138694.4(PKHD1):c.9829+10T>G rs143526199 0.00518
NM_138694.4(PKHD1):c.1964+17G>T rs201349527 0.00517
NM_138694.4(PKHD1):c.7733+61G>T rs114902024 0.00509
NM_138694.4(PKHD1):c.1837-270C>T rs113217742 0.00500
NM_138694.4(PKHD1):c.11506+145T>C rs147323378 0.00490
NM_138694.4(PKHD1):c.1512+91G>C rs143549664 0.00488
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=) rs140065359 0.00482
NM_138694.4(PKHD1):c.11738G>A (p.Arg3913His) rs2661487 0.00453
NM_138694.4(PKHD1):c.2593-235T>G rs112931740 0.00451
NM_138694.4(PKHD1):c.390+100C>T rs115998572 0.00430
NM_138694.4(PKHD1):c.603-22C>A rs115682119 0.00426
NM_138694.4(PKHD1):c.1837-70C>A rs138002685 0.00425
NM_138694.4(PKHD1):c.1694-240A>G rs151272099 0.00410
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_138694.4(PKHD1):c.2280-104C>A rs147601792 0.00397
NM_138694.4(PKHD1):c.708-163G>T rs140696357 0.00353
NM_138694.4(PKHD1):c.5752-135T>G rs60533965 0.00347
NM_138694.4(PKHD1):c.602+144C>T rs113941363 0.00347
NM_138694.4(PKHD1):c.668-61T>C rs113543445 0.00347
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674 0.00340
NM_138694.4(PKHD1):c.9829+70T>G rs148876035 0.00323
NM_138694.4(PKHD1):c.8798-117G>C rs144137583 0.00299
NM_138694.4(PKHD1):c.7350+467G>A rs150924405 0.00294
NM_138694.4(PKHD1):c.6808+125G>A rs148219735 0.00293
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=) rs116156469 0.00271
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His) rs143832120 0.00271
NM_138694.4(PKHD1):c.7216-40C>A rs141489784 0.00270
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala) rs146519878 0.00261
NM_138694.4(PKHD1):c.1950G>A (p.Arg650=) rs143226202 0.00257
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340 0.00230
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_138694.4(PKHD1):c.8951-13C>T rs112249812 0.00163
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976 0.00146
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00145
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser) rs41273722 0.00140
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=) rs141574387 0.00135
NM_138694.4(PKHD1):c.11130C>T (p.Ile3710=) rs146224907 0.00115
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301 0.00105
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) rs137925439 0.00102
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln) rs145886657 0.00101
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=) rs17752991 0.00084
NM_138694.4(PKHD1):c.7912-5T>G rs371510537 0.00075
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706 0.00073
NM_138694.4(PKHD1):c.3365-32T>A rs139697312 0.00071
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042 0.00070
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser) rs200204857 0.00061
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile) rs149111536 0.00057
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His) rs149163661 0.00054
NM_138694.4(PKHD1):c.2593-39G>T rs150987787 0.00053
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=) rs148335285 0.00052
NM_138694.4(PKHD1):c.11507-11C>T rs201478327 0.00050
NM_138694.4(PKHD1):c.881-46A>G rs200399592 0.00048
NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=) rs183674012 0.00048
NM_138694.4(PKHD1):c.129T>C (p.Asp43=) rs201195801 0.00040
NM_138694.4(PKHD1):c.1234-9T>C rs200707468 0.00038
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=) rs143737660 0.00038
NM_138694.4(PKHD1):c.333C>T (p.Phe111=) rs145815264 0.00036
NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=) rs149427926 0.00026
NM_138694.4(PKHD1):c.3098-13G>A rs371242359 0.00022
NM_138694.4(PKHD1):c.7170T>C (p.Thr2390=) rs368101035 0.00020
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=) rs200679577 0.00017
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=) rs138989655 0.00016
NM_138694.4(PKHD1):c.633G>A (p.Gly211=) rs144025892 0.00016
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=) rs760710708 0.00009
NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=) rs754654892 0.00009
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=) rs142855690 0.00007
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr) rs557211301 0.00005
NM_138694.4(PKHD1):c.3183C>T (p.Val1061=) rs759939735 0.00005
NM_138694.4(PKHD1):c.5958C>T (p.His1986=) rs745388926 0.00004
NM_138694.4(PKHD1):c.7591C>T (p.Leu2531=) rs150559372 0.00004
NM_138694.4(PKHD1):c.1425C>T (p.Asn475=) rs200745148 0.00001
NM_138694.4(PKHD1):c.8430G>A (p.Glu2810=) rs1188949424 0.00001
NM_138694.4(PKHD1):c.8988C>T (p.Phe2996=) rs576108391 0.00001
NM_138694.4(PKHD1):c.-84-30dup rs200738257
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu) rs76572975
NM_138694.4(PKHD1):c.1513-133G>C rs532453502
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) rs141790557
NM_138694.4(PKHD1):c.1836C>T (p.His612=)
NM_138694.4(PKHD1):c.2279+34_2279+36del rs576742030
NM_138694.4(PKHD1):c.2280-89C>G rs113543796
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.281+257del rs369269219
NM_138694.4(PKHD1):c.3365-169del rs5876250
NM_138694.4(PKHD1):c.3628+248del rs1169046988
NM_138694.4(PKHD1):c.3628+280_3628+281dup rs1229066296
NM_138694.4(PKHD1):c.3628+280_3628+282dup rs1229066296
NM_138694.4(PKHD1):c.3628+281_3628+282insC rs1425754976
NM_138694.4(PKHD1):c.3645C>T (p.Ser1215=) rs1581815094
NM_138694.4(PKHD1):c.390+172C>T rs116488010
NM_138694.4(PKHD1):c.449-15TTC[2] rs545812620
NM_138694.4(PKHD1):c.5877C>T (p.Asn1959=) rs955588679
NM_138694.4(PKHD1):c.5909-22C>A rs116186175
NM_138694.4(PKHD1):c.6121+181G>A rs112887510
NM_138694.4(PKHD1):c.667+101A>C rs11969034
NM_138694.4(PKHD1):c.667+212dup rs138552683
NM_138694.4(PKHD1):c.668-182dup rs11397618
NM_138694.4(PKHD1):c.6865+126AT[16] rs66966800
NM_138694.4(PKHD1):c.7734-27dup rs201176305
NM_138694.4(PKHD1):c.779-12del rs5876252
NM_138694.4(PKHD1):c.779-195G>C rs73739128
NM_138694.4(PKHD1):c.8174-18dup rs566540835
NM_138694.4(PKHD1):c.8304C>T (p.Asn2768=) rs1472651582
NM_138694.4(PKHD1):c.881-119TA[17] rs369093047
NM_138694.4(PKHD1):c.881-135_881-134insTCTCTCTCTG rs1554220744
NM_138694.4(PKHD1):c.881-135_881-134insTCTCTCTG rs55683484
NM_138694.4(PKHD1):c.881-135_881-134insTCTG rs147117643
NM_138694.4(PKHD1):c.9030A>G (p.Ser3010=) rs1582443006
NM_138694.4(PKHD1):c.9998+173C>A rs139531083

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.