ClinVar Miner

Variants with conflicting interpretations studied for PKD1-related disorder

Minimum review status of the submission for PKD1-related disorder: Collection method of the submission for PKD1-related disorder:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
476 221 0 93 54 0 24 152

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
PKD1-related disorder pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 24 8 1 0
likely pathogenic 3 0 7 0 0
uncertain significance 2 6 0 12 2
likely benign 0 0 40 0 30
benign 0 0 2 36 0

Condition to condition summary #

Total conditions: 3
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
not provided 0 206 0 77 38 0 20 125
not specified 0 90 0 41 29 0 3 69
PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease 0 4 0 0 0 0 2 2

All variants with conflicting interpretations #

Total variants: 152
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.7077G>C (p.Arg2359=) rs4018162 0.01868
NM_001009944.3(PKD1):c.107C>A (p.Pro36His) rs560049593 0.01538
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387 0.01193
NM_001009944.3(PKD1):c.3935G>A (p.Arg1312Gln) rs142129358 0.00865
NM_001009944.3(PKD1):c.8037A>G (p.Val2679=) rs139752541 0.00850
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992 0.00811
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387 0.00775
NM_001009944.3(PKD1):c.9270C>T (p.Val3090=) rs149056734 0.00736
NM_001009944.3(PKD1):c.7066-5G>A rs372745980 0.00669
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043 0.00622
NM_001009944.3(PKD1):c.4051C>T (p.Arg1351Trp) rs55840049 0.00551
NM_001009944.3(PKD1):c.8161+8G>A rs199569003 0.00547
NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=) rs144634185 0.00512
NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr) rs148164067 0.00508
NM_001009944.3(PKD1):c.4264G>A (p.Ala1422Thr) rs140980374 0.00485
NM_001009944.3(PKD1):c.5847C>T (p.Ser1949=) rs80111665 0.00413
NM_001009944.3(PKD1):c.11262G>C (p.Leu3754=) rs139399947 0.00399
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200 0.00389
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099 0.00351
NM_001009944.3(PKD1):c.9111G>A (p.Ser3037=) rs57870377 0.00331
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln) rs140189010 0.00313
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392 0.00313
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln) rs145217118 0.00290
NM_001009944.3(PKD1):c.2515C>T (p.Pro839Ser) rs146651553 0.00261
NM_001009944.3(PKD1):c.8119G>A (p.Val2707Met) rs139507058 0.00248
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481 0.00222
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg) rs369397443 0.00209
NM_001009944.3(PKD1):c.4872C>T (p.Ile1624=) rs142575178 0.00203
NM_001009944.3(PKD1):c.3853C>T (p.Arg1285Trp) rs143953714 0.00195
NM_001009944.3(PKD1):c.5852G>A (p.Arg1951Gln) rs137905643 0.00156
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr) rs200037070 0.00145
NM_001009944.3(PKD1):c.1202C>T (p.Ala401Val) rs139917246 0.00140
NM_001009944.3(PKD1):c.11017-3C>T rs185355445 0.00135
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204 0.00125
NM_001009944.3(PKD1):c.10400C>T (p.Ala3467Val) rs144590217 0.00123
NM_001009944.3(PKD1):c.4654G>A (p.Val1552Ile) rs149874529 0.00121
NM_001009944.3(PKD1):c.3006G>C (p.Val1002=) rs143013095 0.00108
NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr) rs769369111 0.00105
NM_001009944.3(PKD1):c.2266G>A (p.Ala756Thr) rs763021570 0.00103
NM_001009944.3(PKD1):c.2192C>T (p.Pro731Leu) rs979342927 0.00102
NM_001009944.3(PKD1):c.3140C>T (p.Ser1047Leu) rs147910505 0.00092
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val) rs148496347 0.00089
NM_001009944.3(PKD1):c.3380C>T (p.Pro1127Leu) rs145922241 0.00077
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn) rs141274774 0.00067
NM_001009944.3(PKD1):c.2655C>T (p.Cys885=) rs142606648 0.00061
NM_001009944.3(PKD1):c.3430G>A (p.Val1144Ile) rs140991712 0.00061
NM_001009944.3(PKD1):c.4856C>T (p.Ser1619Phe) rs146723506 0.00061
NM_001009944.3(PKD1):c.2431C>G (p.Leu811Val) rs137928037 0.00058
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile) rs140162759 0.00058
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238 0.00053
NM_001009944.3(PKD1):c.8344G>A (p.Val2782Met) rs151089809 0.00053
NM_001009944.3(PKD1):c.8060C>T (p.Thr2687Met) rs148642998 0.00047
NM_001009944.3(PKD1):c.1326C>T (p.Ala442=) rs376607683 0.00046
NM_001009944.3(PKD1):c.74G>T (p.Gly25Val) rs972049140 0.00046
NM_001009944.3(PKD1):c.9718G>A (p.Ala3240Thr) rs143312683 0.00044
NM_001009944.3(PKD1):c.11015G>A (p.Arg3672Gln) rs201220835 0.00039
NM_001009944.3(PKD1):c.8948+28G>T rs201013633 0.00039
NM_001009944.3(PKD1):c.3495C>T (p.Asp1165=) rs375384742 0.00036
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg) rs201991587 0.00035
NM_001009944.3(PKD1):c.5577T>C (p.Ala1859=) rs140662778 0.00033
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_001009944.3(PKD1):c.11388C>G (p.Ala3796=) rs149331148 0.00027
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser) rs141670808 0.00026
NM_001009944.3(PKD1):c.11870G>A (p.Gly3957Asp) rs536586062 0.00026
NM_001009944.3(PKD1):c.10397C>T (p.Ser3466Leu) rs147464577 0.00025
NM_001009944.3(PKD1):c.6331G>A (p.Glu2111Lys) rs138672759 0.00024
NM_001009944.3(PKD1):c.9187C>T (p.Arg3063Cys) rs145906459 0.00024
NM_001009944.3(PKD1):c.238C>T (p.Arg80Trp) rs551353498 0.00023
NM_001009944.3(PKD1):c.8334C>T (p.Gly2778=) rs559071281 0.00023
NM_001009944.3(PKD1):c.3679G>T (p.Ala1227Ser) rs150710956 0.00022
NM_001009944.3(PKD1):c.8281C>T (p.Arg2761Cys) rs138256927 0.00021
NM_001009944.3(PKD1):c.6205G>A (p.Gly2069Ser) rs148363380 0.00020
NM_001009944.3(PKD1):c.6395T>G (p.Phe2132Cys) rs150154235 0.00020
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His) rs556618384 0.00020
NM_001009944.3(PKD1):c.7463C>T (p.Thr2488Ile) rs755367165 0.00019
NM_001009944.3(PKD1):c.7711G>C (p.Ala2571Pro) rs749853995 0.00019
NM_001009944.3(PKD1):c.12075G>A (p.Glu4025=) rs754786423 0.00016
NM_001009944.3(PKD1):c.9009G>A (p.Ala3003=) rs374619113 0.00016
NM_001009944.3(PKD1):c.2017C>G (p.Pro673Ala) rs372961544 0.00015
NM_001009944.3(PKD1):c.3069G>C (p.Gln1023His) rs568163462 0.00014
NM_001009944.3(PKD1):c.9169G>A (p.Val3057Met) rs778055216 0.00013
NM_001009944.3(PKD1):c.10315C>T (p.Arg3439Trp) rs374486955 0.00012
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val) rs528213425 0.00012
NM_001009944.3(PKD1):c.8914G>A (p.Asp2972Asn) rs150189496 0.00011
NM_001009944.3(PKD1):c.8464G>A (p.Val2822Met) rs201289693 0.00010
NM_001009944.3(PKD1):c.10102G>A (p.Asp3368Asn) rs762866943 0.00009
NM_001009944.3(PKD1):c.12473T>C (p.Met4158Thr) rs201035636 0.00009
NM_001009944.3(PKD1):c.6878C>T (p.Pro2293Leu) rs530832015 0.00008
NM_001009944.3(PKD1):c.8372G>A (p.Arg2791Gln) rs367746233 0.00008
NM_001009944.3(PKD1):c.3239C>A (p.Pro1080His) rs746334905 0.00006
NM_001009944.3(PKD1):c.8305C>T (p.Leu2769Phe) rs771382752 0.00006
NM_001009944.3(PKD1):c.9136C>T (p.Arg3046Cys) rs773857360 0.00005
NM_001009944.3(PKD1):c.10933C>T (p.Arg3645Cys) rs765277688 0.00004
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419 0.00003
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val) rs767834829 0.00003
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp) rs776866974 0.00003
NM_001009944.3(PKD1):c.1304A>G (p.Gln435Arg) rs1426435123 0.00001
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100 0.00001
NM_001009944.3(PKD1):c.3242C>T (p.Ser1081Leu) rs377441860 0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757 0.00001
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met) rs1367567191 0.00001
NM_001009944.3(PKD1):c.7810G>A (p.Asp2604Asn) rs778565182 0.00001
NM_001009944.3(PKD1):c.8017-2_8017-1del rs1567180636 0.00001
NM_001009944.3(PKD1):c.8300G>A (p.Arg2767His) rs770080914 0.00001
NM_001009944.3(PKD1):c.9412G>A (p.Val3138Met) rs1358566538 0.00001
NM_001009944.3(PKD1):c.10850T>C (p.Leu3617Pro) rs1567158067
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val) rs1483214870
NM_001009944.3(PKD1):c.11248C>T (p.Arg3750Trp) rs1356378120
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln) rs1555446330
NM_001009944.3(PKD1):c.11860G>C (p.Ala3954Pro) rs1424496188
NM_001009944.3(PKD1):c.12386TGG[1] (p.Val4130del) rs2544585102
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys) rs1282668884
NM_001009944.3(PKD1):c.12673C>T (p.Gln4225Ter) rs2091395464
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val) rs1060499699
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
NM_001009944.3(PKD1):c.1591G>A (p.Glu531Lys) rs1567215326
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.2180T>G (p.Leu727Arg) rs1616940
NM_001009944.3(PKD1):c.3101A>G (p.Asn1034Ser) rs28681051
NM_001009944.3(PKD1):c.3401_3404del (p.Ser1134fs) rs1567204146
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg) rs2151801188
NM_001009944.3(PKD1):c.3542A>G (p.Tyr1181Cys) rs1458516705
NM_001009944.3(PKD1):c.3548C>T (p.Ser1183Leu) rs551162125
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.4475G>C (p.Arg1492Pro) rs757055929
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter) rs1238351274
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del) rs1567198691
NM_001009944.3(PKD1):c.4963G>T (p.Val1655Leu) rs149671582
NM_001009944.3(PKD1):c.5037C>A (p.Ser1679Arg) rs144091742
NM_001009944.3(PKD1):c.5092C>T (p.Arg1698Trp) rs141871028
NM_001009944.3(PKD1):c.5989C>T (p.Gln1997Ter) rs2544806938
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser) rs2092437527
NM_001009944.3(PKD1):c.603C>G (p.His201Gln) rs13334842
NM_001009944.3(PKD1):c.6508dup (p.Glu2170fs) rs1567192623
NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del) rs2151786683
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del) rs1596550396
NM_001009944.3(PKD1):c.6778_6780del (p.Ile2260del) rs2544800298
NM_001009944.3(PKD1):c.6827T>C (p.Leu2276Pro) rs1567191044
NM_001009944.3(PKD1):c.6916-9G>A rs1567190244
NM_001009944.3(PKD1):c.7066-2A>G rs2544785397
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter) rs757768731
NM_001009944.3(PKD1):c.8207C>G (p.Pro2736Arg) rs760592410
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del) rs1596527370
NM_001009944.3(PKD1):c.8369del (p.Pro2790fs) rs1057518604
NM_001009944.3(PKD1):c.8666_8674del (p.Ser2889_Ala2891del) rs771434359
NM_001009944.3(PKD1):c.8672CCAACTCCG[1] (p.2891ANS[1]) rs763199524
NM_001009944.3(PKD1):c.8694G>A (p.Val2898=) rs141252776
NM_001009944.3(PKD1):c.9568+1G>T rs2092046394
NM_001009944.3(PKD1):c.9794C>A (p.Ser3265Tyr) rs1188643869
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met) rs775497330
NM_001009944.3(PKD1):c.9924-9_9924-7del rs892390487

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