ClinVar Miner

Variants in gene PKHD1 with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492 0.00702
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.2279+13T>G rs188914598 0.00572
NM_138694.4(PKHD1):c.1964+17G>T rs201349527 0.00517
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=) rs140065359 0.00482
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.2715+7del rs551015414 0.00313
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala) rs146519878 0.00261
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.652G>A (p.Glu218Lys) rs149522482 0.00198
NM_138694.4(PKHD1):c.8951-13C>T rs112249812 0.00163
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=) rs141574387 0.00135
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) rs137925439 0.00102
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706 0.00073
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser) rs200204857 0.00061
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731 0.00058
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile) rs149111536 0.00057
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=) rs148335285 0.00052
NM_138694.4(PKHD1):c.7911+19T>C rs201017366 0.00040
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr) rs143979330 0.00035
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu) rs150597050 0.00029
NM_138694.4(PKHD1):c.130+9G>A rs367608402 0.00025
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met) rs199621305 0.00025
NM_138694.4(PKHD1):c.1257C>T (p.Val419=) rs374650666 0.00024
NM_138694.4(PKHD1):c.3761C>G (p.Ala1254Gly) rs148901752 0.00023
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr) rs147351244 0.00022
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=) rs201769990 0.00012
NM_138694.4(PKHD1):c.5910G>A (p.Gly1970=) rs200730851 0.00012
NM_138694.4(PKHD1):c.7810C>T (p.Arg2604Cys) rs201091083 0.00006
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys) rs141081295 0.00006
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr) rs557211301 0.00005
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr) rs201611688 0.00003
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln) rs201753421 0.00002
NM_138694.4(PKHD1):c.6475G>A (p.Ala2159Thr) rs750822014 0.00001
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu) rs573293029
NM_138694.4(PKHD1):c.11507-12del rs771337119
NM_138694.4(PKHD1):c.11507-7G>A rs373438297
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.8174-18dup rs566540835

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.