ClinVar Miner

Variants with conflicting interpretations studied for PIEZO1-related disorder

Minimum review status of the submission for PIEZO1-related disorder: Collection method of the submission for PIEZO1-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
101 87 0 57 83 2 3 128

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
PIEZO1-related disorder pathogenic likely pathogenic uncertain significance likely benign benign affects
likely pathogenic 3 0 1 0 0 0
uncertain significance 1 1 0 17 30 2
likely benign 0 0 40 0 41 0
benign 0 0 1 13 0 0

Condition to condition summary #

Total conditions: 4
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 88 0 55 83 0 2 126
not specified 0 11 0 6 5 0 0 11
Blood group, ER 0 0 0 0 0 2 0 2
ER BLOOD GROUP SYSTEM, ER(a-b-) 0 0 0 1 0 0 1 2

All variants with conflicting interpretations #

Total variants: 128
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001142864.4(PIEZO1):c.2992-23A>G rs76070043 0.14300
NM_001142864.4(PIEZO1):c.5828G>A (p.Arg1943Gln) rs115799619 0.00868
NM_001142864.4(PIEZO1):c.1702C>T (p.Leu568=) rs114584865 0.00736
NM_001142864.4(PIEZO1):c.7505A>G (p.Lys2502Arg) rs34830861 0.00599
NM_001142864.4(PIEZO1):c.4495+4C>T rs140520334 0.00562
NM_001142864.4(PIEZO1):c.7041C>T (p.Asp2347=) rs34352064 0.00535
NM_001142864.4(PIEZO1):c.5694G>C (p.Glu1898Asp) rs201829917 0.00472
NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=) rs35597347 0.00444
NM_001142864.4(PIEZO1):c.2423G>A (p.Arg808Gln) rs202103485 0.00400
NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser) rs200970763 0.00395
NM_001142864.4(PIEZO1):c.5802-4G>A rs149342271 0.00381
NM_001142864.4(PIEZO1):c.1998-5C>T rs188058617 0.00361
NM_001142864.4(PIEZO1):c.3928G>A (p.Val1310Ile) rs34606201 0.00297
NM_001142864.4(PIEZO1):c.3667G>A (p.Val1223Ile) rs185326407 0.00296
NM_001142864.4(PIEZO1):c.4580G>A (p.Arg1527His) rs148870219 0.00229
NM_001142864.4(PIEZO1):c.7426C>T (p.Arg2476Cys) rs144035770 0.00210
NM_001142864.4(PIEZO1):c.1998-10C>T rs74033378 0.00209
NM_001142864.4(PIEZO1):c.5883T>C (p.Tyr1961=) rs115213894 0.00185
NM_001142864.4(PIEZO1):c.985C>G (p.Leu329Val) rs114507258 0.00179
NM_001142864.4(PIEZO1):c.5728G>A (p.Glu1910Lys) rs200929552 0.00156
NM_001142864.4(PIEZO1):c.2409G>C (p.Gln803His) rs200029740 0.00147
NM_001142864.4(PIEZO1):c.6829C>A (p.Leu2277Met) rs563555492 0.00145
NM_001142864.4(PIEZO1):c.5963C>T (p.Ala1988Val) rs556192193 0.00137
NM_001142864.4(PIEZO1):c.3793G>A (p.Asp1265Asn) rs570106950 0.00126
NM_001142864.4(PIEZO1):c.7374C>G (p.Phe2458Leu) rs202127176 0.00112
NM_001142864.4(PIEZO1):c.7180G>A (p.Gly2394Ser) rs201950081 0.00109
NM_001142864.4(PIEZO1):c.2815C>A (p.Leu939Met) rs201226914 0.00104
NM_001142864.4(PIEZO1):c.1270T>C (p.Tyr424His) rs759627248 0.00094
NM_001142864.4(PIEZO1):c.94C>A (p.Leu32Met) rs370663645 0.00091
NM_001142864.4(PIEZO1):c.1688C>T (p.Thr563Met) rs192347853 0.00067
NM_001142864.4(PIEZO1):c.1495G>A (p.Val499Ile) rs530486445 0.00065
NM_001142864.4(PIEZO1):c.1591C>T (p.Arg531Cys) rs146505418 0.00065
NM_001142864.4(PIEZO1):c.3699+6C>T rs147726156 0.00060
NM_001142864.4(PIEZO1):c.4957C>T (p.Arg1653Cys) rs761500193 0.00060
NM_001142864.4(PIEZO1):c.4210C>T (p.Arg1404Trp) rs188966111 0.00059
NM_001142864.4(PIEZO1):c.4955+8C>T rs533263001 0.00058
NM_001142864.4(PIEZO1):c.3437C>T (p.Pro1146Leu) rs538640563 0.00056
NM_001142864.4(PIEZO1):c.7153G>A (p.Val2385Met) rs369319123 0.00053
NM_001142864.4(PIEZO1):c.4274G>A (p.Ser1425Asn) rs772788410 0.00050
NM_001142864.4(PIEZO1):c.6781A>G (p.Ser2261Gly) rs550322372 0.00047
NM_001142864.4(PIEZO1):c.1009C>T (p.Pro337Ser) rs556220156 0.00046
NM_001142864.4(PIEZO1):c.7174G>A (p.Glu2392Lys) rs528448732 0.00046
NM_001142864.4(PIEZO1):c.6804G>A (p.Ala2268=) rs371847339 0.00045
NM_001142864.4(PIEZO1):c.6886A>C (p.Thr2296Pro) rs573353481 0.00045
NM_001142864.4(PIEZO1):c.5214+7C>T rs764990602 0.00044
NM_001142864.4(PIEZO1):c.6990C>T (p.Pro2330=) rs545326364 0.00043
NM_001142864.4(PIEZO1):c.1107+1G>C rs199524784 0.00040
NM_001142864.4(PIEZO1):c.4539C>G (p.Phe1513Leu) rs377025920 0.00040
NM_001142864.4(PIEZO1):c.4252T>C (p.Tyr1418His) rs147153006 0.00038
NM_001142864.4(PIEZO1):c.6307C>G (p.Leu2103Val) rs531972155 0.00038
NM_001142864.4(PIEZO1):c.1107+6C>T rs374599949 0.00037
NM_001142864.4(PIEZO1):c.7007G>A (p.Arg2336Gln) rs565307908 0.00035
NM_001142864.4(PIEZO1):c.4190C>T (p.Pro1397Leu) rs756582306 0.00033
NM_001142864.4(PIEZO1):c.2889C>G (p.Ala963=) rs533382499 0.00030
NM_001142864.4(PIEZO1):c.7471C>T (p.Arg2491Trp) rs201746476 0.00030
NM_001142864.4(PIEZO1):c.752C>T (p.Ala251Val) rs539005229 0.00027
NM_001142864.4(PIEZO1):c.284-4G>A rs543289166 0.00019
NM_001142864.4(PIEZO1):c.3778G>A (p.Val1260Ile) rs776788949 0.00019
NM_001142864.4(PIEZO1):c.645C>G (p.His215Gln) rs559847737 0.00019
NM_001142864.4(PIEZO1):c.4998G>A (p.Ala1666=) rs571925388 0.00018
NM_001142864.4(PIEZO1):c.4370C>T (p.Ala1457Val) rs532444891 0.00017
NM_001142864.4(PIEZO1):c.469G>C (p.Asp157His) rs561856394 0.00017
NM_001142864.4(PIEZO1):c.4662C>T (p.Leu1554=) rs751557941 0.00016
NM_001142864.4(PIEZO1):c.4891C>T (p.Arg1631Cys) rs566969453 0.00015
NM_001142864.4(PIEZO1):c.7386C>T (p.Ile2462=) rs574227772 0.00015
NM_001142864.4(PIEZO1):c.3340C>G (p.Gln1114Glu) rs373706590 0.00014
NM_001142864.4(PIEZO1):c.7049+9A>T rs751878651 0.00014
NM_001142864.4(PIEZO1):c.7365G>A (p.Val2455=) rs201019404 0.00013
NM_001142864.4(PIEZO1):c.7368C>T (p.Arg2456=) rs111564291 0.00013
NM_001142864.4(PIEZO1):c.5778G>A (p.Arg1926=) rs369024245 0.00012
NM_001142864.4(PIEZO1):c.1370G>A (p.Arg457His) rs371267171 0.00011
NM_001142864.4(PIEZO1):c.2392G>A (p.Val798Ile) rs931204966 0.00011
NM_001142864.4(PIEZO1):c.1427C>T (p.Thr476Met) rs766289147 0.00010
NM_001142864.4(PIEZO1):c.4439-8G>T rs777304709 0.00010
NM_001142864.4(PIEZO1):c.6705C>T (p.Phe2235=) rs747798306 0.00010
NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu) rs750027720 0.00009
NM_001142864.4(PIEZO1):c.6584C>T (p.Ser2195Leu) rs766429217 0.00009
NM_001142864.4(PIEZO1):c.972C>T (p.Tyr324=) rs374283466 0.00009
NM_001142864.4(PIEZO1):c.3783G>C (p.Lys1261Asn) rs752880958 0.00008
NM_001142864.4(PIEZO1):c.5564C>T (p.Pro1855Leu) rs764696200 0.00008
NM_001142864.4(PIEZO1):c.1196-4G>C rs946453254 0.00007
NM_001142864.4(PIEZO1):c.3632G>A (p.Arg1211His) rs766820906 0.00007
NM_001142864.4(PIEZO1):c.5012G>A (p.Arg1671Gln) rs987971305 0.00006
NM_001142864.4(PIEZO1):c.5865C>T (p.Arg1955=) rs367814129 0.00006
NM_001142864.4(PIEZO1):c.6443T>C (p.Ile2148Thr) rs768312615 0.00005
NM_001142864.4(PIEZO1):c.3331C>T (p.Gln1111Ter) rs1161335800 0.00004
NM_001142864.4(PIEZO1):c.4743C>T (p.Thr1581=) rs769386844 0.00004
NM_001142864.4(PIEZO1):c.1574C>T (p.Thr525Ile) rs765825619 0.00003
NM_001142864.4(PIEZO1):c.1646C>T (p.Thr549Met) rs775326454 0.00003
NM_001142864.4(PIEZO1):c.2673C>T (p.Pro891=) rs776536395 0.00003
NM_001142864.4(PIEZO1):c.6471+9G>A rs761913079 0.00003
NM_001142864.4(PIEZO1):c.3696G>A (p.Leu1232=) rs749151405 0.00002
NM_001142864.4(PIEZO1):c.4744G>A (p.Glu1582Lys) rs1040063411 0.00002
NM_001142864.4(PIEZO1):c.539G>A (p.Arg180Gln) rs1353290865 0.00002
NM_001142864.4(PIEZO1):c.6879C>T (p.Tyr2293=) rs558982192 0.00002
NM_001142864.4(PIEZO1):c.1718A>G (p.Lys573Arg) rs1052196774 0.00001
NM_001142864.4(PIEZO1):c.2652C>T (p.Ser884=) rs1229422527 0.00001
NM_001142864.4(PIEZO1):c.3312C>T (p.Leu1104=) rs568110389 0.00001
NM_001142864.4(PIEZO1):c.5557G>A (p.Gly1853Arg) rs367636785 0.00001
NM_001142864.4(PIEZO1):c.5911G>A (p.Asp1971Asn) rs531711677 0.00001
NM_001142864.4(PIEZO1):c.7130-5C>A rs1357808025 0.00001
NM_001142864.4(PIEZO1):c.7150G>A (p.Gly2384Ser) rs779772252 0.00001
NM_001142864.4(PIEZO1):c.1333G>A (p.Val445Ile) rs902069811
NM_001142864.4(PIEZO1):c.1930G>A (p.Val644Ile) rs1314158150
NM_001142864.4(PIEZO1):c.2132T>A (p.Met711Lys) rs534048899
NM_001142864.4(PIEZO1):c.2233CAG[6] (p.Gln749_Glu750insGln) rs144777557
NM_001142864.4(PIEZO1):c.2247GGA[10] (p.Glu756_Asp757insGluGlu) rs59446030
NM_001142864.4(PIEZO1):c.2247GGA[6] (p.Glu755_Glu756del) rs59446030
NM_001142864.4(PIEZO1):c.2488-66CCCAAGCCCAGCCCCACGTGCCCACTGCCCTC[3] rs747907132
NM_001142864.4(PIEZO1):c.2727G>A (p.Gly909=)
NM_001142864.4(PIEZO1):c.2764G>T (p.Gly922Trp) rs765114227
NM_001142864.4(PIEZO1):c.2982C>G (p.Phe994Leu) rs374262841
NM_001142864.4(PIEZO1):c.3373C>T (p.Gln1125Ter) rs1027603469
NM_001142864.4(PIEZO1):c.3416G>A (p.Arg1139Gln) rs747323210
NM_001142864.4(PIEZO1):c.3625C>T (p.Arg1209Trp) rs750479923
NM_001142864.4(PIEZO1):c.4180G>A (p.Gly1394Ser) rs753919544
NM_001142864.4(PIEZO1):c.4623C>A (p.Asp1541Glu) rs748928863
NM_001142864.4(PIEZO1):c.4788G>A (p.Ala1596=)
NM_001142864.4(PIEZO1):c.5139C>T (p.Leu1713=) rs369279313
NM_001142864.4(PIEZO1):c.5218G>A (p.Ala1740Thr) rs942498680
NM_001142864.4(PIEZO1):c.5289C>G (p.Tyr1763Ter) rs72811487
NM_001142864.4(PIEZO1):c.5314C>T (p.Arg1772Cys)
NM_001142864.4(PIEZO1):c.5413C>T (p.Leu1805Phe) rs201769196
NM_001142864.4(PIEZO1):c.5602C>T (p.Arg1868Cys)
NM_001142864.4(PIEZO1):c.64+7G>C rs759607463
NM_001142864.4(PIEZO1):c.6494AGA[4] (p.Lys2169del) rs763477215
NM_001142864.4(PIEZO1):c.7234C>G (p.Arg2412Gly) rs577922766
NM_001142864.4(PIEZO1):c.768C>T (p.Gly256=) rs761959598

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