ClinVar Miner

Variants in gene PIEZO1 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
865 135 0 78 95 5 3 163

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.

pathogenic likely pathogenic uncertain significance likely benign benign affects
pathogenic 0 5 1 0 0 1
likely pathogenic 5 0 2 0 0 0
uncertain significance 1 2 0 55 54 4
likely benign 0 0 55 0 73 2
benign 0 0 54 73 0 2
affects 1 0 4 2 2 0

All variants with conflicting interpretations #

Total variants: 163
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001142864.4(PIEZO1):c.3456-11C>T rs77276858 0.03009
NM_001142864.4(PIEZO1):c.4385G>A (p.Arg1462Gln) rs188337046 0.01884
NM_001142864.4(PIEZO1):c.132C>T (p.Phe44=) rs112488313 0.01303
NM_001142864.4(PIEZO1):c.4475G>A (p.Gly1492Asp) rs8051003 0.01135
NM_001142864.4(PIEZO1):c.6734G>A (p.Arg2245Gln) rs2290901 0.01007
NM_001142864.4(PIEZO1):c.7152C>T (p.Gly2384=) rs78114078 0.00953
NM_001142864.4(PIEZO1):c.5828G>A (p.Arg1943Gln) rs115799619 0.00868
NM_001142864.4(PIEZO1):c.6219C>T (p.Tyr2073=) rs61745850 0.00779
NM_001142864.4(PIEZO1):c.5195C>T (p.Thr1732Met) rs139051768 0.00749
NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu) rs61745086 0.00748
NM_001142864.4(PIEZO1):c.5552C>T (p.Thr1851Met) rs34370460 0.00731
NM_001142864.4(PIEZO1):c.6222C>T (p.Phe2074=) rs34388120 0.00654
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.4770G>A (p.Val1590=) rs183221795 0.00516
NM_001142864.4(PIEZO1):c.7240G>A (p.Asp2414Asn) rs58548913 0.00473
NM_001142864.4(PIEZO1):c.5694G>C (p.Glu1898Asp) rs201829917 0.00472
NM_001142864.4(PIEZO1):c.4866G>A (p.Glu1622=) rs60253125 0.00426
NM_001142864.4(PIEZO1):c.4439-15G>T rs141469687 0.00406
NM_001142864.4(PIEZO1):c.3456-10G>A rs188761308 0.00403
NM_001142864.4(PIEZO1):c.5461G>A (p.Gly1821Ser) rs78574543 0.00327
NM_001142864.4(PIEZO1):c.3928G>A (p.Val1310Ile) rs34606201 0.00322
NM_001142864.4(PIEZO1):c.4356G>C (p.Val1452=) rs557970560 0.00296
NM_001142864.4(PIEZO1):c.3935C>T (p.Ala1312Val) rs34246477 0.00274
NM_001142864.4(PIEZO1):c.4580G>A (p.Arg1527His) rs148870219 0.00229
NM_001142864.4(PIEZO1):c.7426C>T (p.Arg2476Cys) rs144035770 0.00225
NM_001142864.4(PIEZO1):c.5883T>C (p.Tyr1961=) rs115213894 0.00185
NM_001142864.4(PIEZO1):c.3969-12G>A rs200317312 0.00171
NM_001142864.4(PIEZO1):c.4363G>A (p.Ala1455Thr) rs191656121 0.00156
NM_001142864.4(PIEZO1):c.5728G>A (p.Glu1910Lys) rs200929552 0.00156
NM_001142864.4(PIEZO1):c.64+17C>T rs577170711 0.00156
NM_001142864.4(PIEZO1):c.3813C>T (p.Asp1271=) rs116683709 0.00138
NM_001142864.4(PIEZO1):c.5963C>T (p.Ala1988Val) rs556192193 0.00137
NM_001142864.4(PIEZO1):c.3793G>A (p.Asp1265Asn) rs570106950 0.00136
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.6822C>T (p.Ser2274=) rs35686439 0.00105
NM_001142864.4(PIEZO1):c.94C>A (p.Leu32Met) rs370663645 0.00091
NM_001142864.4(PIEZO1):c.4668+12C>T rs368128554 0.00087
NM_001142864.4(PIEZO1):c.5874C>T (p.Thr1958=) rs150214594 0.00084
NM_001142864.4(PIEZO1):c.3602C>T (p.Thr1201Met) rs372935580 0.00080
NM_001142864.4(PIEZO1):c.5291A>C (p.Glu1764Ala) rs530387460 0.00077
NM_001142864.4(PIEZO1):c.5773C>T (p.Arg1925Trp) rs201442593 0.00069
NM_001142864.4(PIEZO1):c.6661-12T>G rs540049109 0.00062
NM_001142864.4(PIEZO1):c.3699+6C>T rs147726156 0.00060
NM_001142864.4(PIEZO1):c.6205G>A (p.Val2069Met) rs199752762 0.00059
NM_001142864.4(PIEZO1):c.4766C>T (p.Thr1589Ile) rs534283978 0.00058
NM_001142864.4(PIEZO1):c.4955+8C>T rs533263001 0.00058
NM_001142864.4(PIEZO1):c.6905G>A (p.Arg2302His) rs200555745 0.00058
NM_001142864.4(PIEZO1):c.6836G>A (p.Arg2279His) rs577357377 0.00057
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.6165-7G>A rs141011459 0.00051
NM_001142864.4(PIEZO1):c.4274G>A (p.Ser1425Asn) rs772788410 0.00050
NM_001142864.4(PIEZO1):c.5312C>T (p.Pro1771Leu) rs202099525 0.00048
NM_001142864.4(PIEZO1):c.7174G>A (p.Glu2392Lys) rs528448732 0.00048
NM_001142864.4(PIEZO1):c.5214+7C>T rs764990602 0.00047
NM_001142864.4(PIEZO1):c.6781A>G (p.Ser2261Gly) rs550322372 0.00047
NM_001142864.4(PIEZO1):c.6804G>A (p.Ala2268=) rs371847339 0.00045
NM_001142864.4(PIEZO1):c.3434T>C (p.Val1145Ala) rs550993341 0.00041
NM_001142864.4(PIEZO1):c.6307C>G (p.Leu2103Val) rs531972155 0.00038
NM_001142864.4(PIEZO1):c.4252T>C (p.Tyr1418His) rs147153006 0.00036
NM_001142864.4(PIEZO1):c.6473A>G (p.Lys2158Arg) rs200506892 0.00036
NM_001142864.4(PIEZO1):c.7471C>T (p.Arg2491Trp) rs201746476 0.00030
NM_001142864.4(PIEZO1):c.5647C>T (p.Arg1883Trp) rs200031013 0.00029
NM_001142864.4(PIEZO1):c.5768C>T (p.Ala1923Val) rs771257968 0.00029
NM_001142864.4(PIEZO1):c.5105C>T (p.Thr1702Met) rs377701196 0.00028
NM_001142864.4(PIEZO1):c.5988A>G (p.Ser1996=) rs370710857 0.00026
NM_001142864.4(PIEZO1):c.5627G>A (p.Arg1876Lys) rs201967733 0.00025
NM_001142864.4(PIEZO1):c.6154G>A (p.Val2052Ile) rs564395221 0.00024
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.3922C>G (p.Leu1308Val) rs532112751 0.00019
NM_001142864.4(PIEZO1):c.4662C>T (p.Leu1554=) rs751557941 0.00016
NM_001142864.4(PIEZO1):c.4737C>A (p.Gly1579=) rs560777575 0.00016
NM_001142864.4(PIEZO1):c.4891C>T (p.Arg1631Cys) rs566969453 0.00016
NM_001142864.4(PIEZO1):c.6829C>A (p.Leu2277Met) rs563555492 0.00016
NM_001142864.4(PIEZO1):c.7204G>C (p.Glu2402Gln) rs773860217 0.00016
NM_001142864.4(PIEZO1):c.3340C>G (p.Gln1114Glu) rs373706590 0.00014
NM_001142864.4(PIEZO1):c.5656G>A (p.Ala1886Thr) rs757753448 0.00014
NM_001142864.4(PIEZO1):c.4496-13C>T rs543403418 0.00013
NM_001142864.4(PIEZO1):c.7099G>A (p.Glu2367Lys) rs552562531 0.00012
NM_001142864.4(PIEZO1):c.4439-8G>T rs777304709 0.00010
NM_001142864.4(PIEZO1):c.6315C>G (p.Leu2105=) rs564995953 0.00010
NM_001142864.4(PIEZO1):c.6705C>T (p.Phe2235=) rs747798306 0.00010
NM_001142864.4(PIEZO1):c.7558A>G (p.Lys2520Glu) rs570744198 0.00010
NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu) rs750027720 0.00009
NM_001142864.4(PIEZO1):c.7195G>A (p.Gly2399Ser) rs545171267 0.00009
NM_001142864.4(PIEZO1):c.7381G>A (p.Glu2461Lys) rs371391349 0.00007
NM_001142864.4(PIEZO1):c.5865C>T (p.Arg1955=) rs367814129 0.00006
NM_001142864.4(PIEZO1):c.4958G>A (p.Arg1653His) rs992473797 0.00004
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met) rs587776991 0.00004
NM_001142864.4(PIEZO1):c.7169G>A (p.Arg2390Gln) rs377011269 0.00004
NM_001142864.4(PIEZO1):c.6471+9G>A rs761913079 0.00003
NM_001142864.4(PIEZO1):c.6692C>T (p.Ser2231Phe) rs575482829 0.00002
NM_001142864.4(PIEZO1):c.6879C>T (p.Tyr2293=) rs558982192 0.00002
NM_001142864.4(PIEZO1):c.7091A>G (p.Asn2364Ser) rs1013412353 0.00002
NM_001142864.4(PIEZO1):c.3331C>T (p.Gln1111Ter) rs1161335800 0.00001
NM_001142864.4(PIEZO1):c.3740T>G (p.Phe1247Cys) rs907173644 0.00001
NM_001142864.4(PIEZO1):c.4744G>A (p.Glu1582Lys) rs1040063411 0.00001
NM_001142864.4(PIEZO1):c.4981G>A (p.Glu1661Lys) rs1406098820 0.00001
NM_001142864.4(PIEZO1):c.5557G>A (p.Gly1853Arg) rs367636785 0.00001
NM_001142864.4(PIEZO1):c.5619T>C (p.Phe1873=) rs1433038327 0.00001
NM_001142864.4(PIEZO1):c.7130-5C>A rs1357808025 0.00001
NM_001142864.4(PIEZO1):c.3312C>T (p.Leu1104=)
NM_001142864.4(PIEZO1):c.3373C>T (p.Gln1125Ter)
NM_001142864.4(PIEZO1):c.3416G>A (p.Arg1139Gln) rs747323210
NM_001142864.4(PIEZO1):c.3433G>A (p.Val1145Met)
NM_001142864.4(PIEZO1):c.359G>A (p.Arg120Gln)
NM_001142864.4(PIEZO1):c.3626G>A (p.Arg1209Gln)
NM_001142864.4(PIEZO1):c.3631C>T (p.Arg1211Cys)
NM_001142864.4(PIEZO1):c.3699+20G>C rs4424896
NM_001142864.4(PIEZO1):c.3699+20_3699+21delinsCG rs1904465031
NM_001142864.4(PIEZO1):c.3818A>G (p.Asp1273Gly)
NM_001142864.4(PIEZO1):c.3969-8C>G
NM_001142864.4(PIEZO1):c.4316C>T (p.Ser1439Leu)
NM_001142864.4(PIEZO1):c.4495+10_4495+14dup rs567560285
NM_001142864.4(PIEZO1):c.4530G>A (p.Thr1510=)
NM_001142864.4(PIEZO1):c.4623C>A (p.Asp1541Glu) rs748928863
NM_001142864.4(PIEZO1):c.463C>T (p.Leu155=)
NM_001142864.4(PIEZO1):c.4640G>A (p.Arg1547His)
NM_001142864.4(PIEZO1):c.4743C>T (p.Thr1581=)
NM_001142864.4(PIEZO1):c.4776T>C (p.Ser1592=)
NM_001142864.4(PIEZO1):c.4820T>C (p.Met1607Thr)
NM_001142864.4(PIEZO1):c.4956-17C>T
NM_001142864.4(PIEZO1):c.4969C>T (p.Pro1657Ser) rs763940836
NM_001142864.4(PIEZO1):c.5012G>A (p.Arg1671Gln)
NM_001142864.4(PIEZO1):c.5139C>T (p.Leu1713=) rs369279313
NM_001142864.4(PIEZO1):c.5289C>G (p.Tyr1763Ter) rs72811487
NM_001142864.4(PIEZO1):c.5289C>T (p.Tyr1763=) rs72811487
NM_001142864.4(PIEZO1):c.5340C>T (p.Asp1780=) rs372159659
NM_001142864.4(PIEZO1):c.5389C>T (p.Arg1797Cys)
NM_001142864.4(PIEZO1):c.5393C>T (p.Ser1798Phe)
NM_001142864.4(PIEZO1):c.5515G>A (p.Glu1839Lys) rs77170706
NM_001142864.4(PIEZO1):c.5564C>T (p.Pro1855Leu)
NM_001142864.4(PIEZO1):c.5590C>T (p.Arg1864Cys)
NM_001142864.4(PIEZO1):c.5636A>G (p.Glu1879Gly)
NM_001142864.4(PIEZO1):c.5743C>A (p.Arg1915Ser) rs13338527
NM_001142864.4(PIEZO1):c.5744G>A (p.Arg1915His)
NM_001142864.4(PIEZO1):c.5778G>A (p.Arg1926=)
NM_001142864.4(PIEZO1):c.5827C>T (p.Arg1943Trp)
NM_001142864.4(PIEZO1):c.5846T>G (p.Ile1949Ser)
NM_001142864.4(PIEZO1):c.5863C>T (p.Arg1955Cys)
NM_001142864.4(PIEZO1):c.5920A>G (p.Ile1974Val)
NM_001142864.4(PIEZO1):c.5991C>T (p.Asp1997=)
NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr) rs587776989
NM_001142864.4(PIEZO1):c.6231C>G (p.Ser2077=)
NM_001142864.4(PIEZO1):c.6328C>T (p.Arg2110Trp)
NM_001142864.4(PIEZO1):c.6494AGA[4] (p.Lys2169del) rs763477215
NM_001142864.4(PIEZO1):c.6584C>T (p.Ser2195Leu)
NM_001142864.4(PIEZO1):c.6796G>A (p.Val2266Ile) rs546338962
NM_001142864.4(PIEZO1):c.6835C>T (p.Arg2279Cys)
NM_001142864.4(PIEZO1):c.6886A>C (p.Thr2296Pro)
NM_001142864.4(PIEZO1):c.7007G>A (p.Arg2336Gln)
NM_001142864.4(PIEZO1):c.7219G>A (p.Glu2407Lys)
NM_001142864.4(PIEZO1):c.7219G>C (p.Glu2407Gln)
NM_001142864.4(PIEZO1):c.7234C>G (p.Arg2412Gly) rs577922766
NM_001142864.4(PIEZO1):c.7234C>T (p.Arg2412Trp)
NM_001142864.4(PIEZO1):c.7316+4AGTG[3] rs368997650
NM_001142864.4(PIEZO1):c.7333G>A (p.Val2445Met)
NM_001142864.4(PIEZO1):c.7365G>A (p.Val2455=)
NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup) rs755226463

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