ClinVar Miner

List of variants in gene PIEZO1 reported as benign by Invitae

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Gene type:
ClinVar version:
Total variants: 194
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HGVS dbSNP gnomAD frequency
NM_001142864.4(PIEZO1):c.248T>C (p.Ile83Thr) rs6500495 0.89953
NM_001142864.4(PIEZO1):c.6570A>G (p.Pro2190=) rs6500491 0.89832
NM_001142864.4(PIEZO1):c.4014T>C (p.Phe1338=) rs4782430 0.89391
NM_001142864.4(PIEZO1):c.7059T>C (p.Pro2353=) rs2290902 0.87977
NM_001142864.4(PIEZO1):c.4956-3T>C rs9935872 0.87681
NM_001142864.4(PIEZO1):c.6642G>C (p.Leu2214=) rs8057031 0.63867
NM_001142864.4(PIEZO1):c.63T>G (p.Ala21=) rs2911442 0.30977
NM_001142864.4(PIEZO1):c.6793A>G (p.Ile2265Val) rs1803382 0.25214
NM_001142864.4(PIEZO1):c.4193C>T (p.Pro1398Leu) rs11645197 0.22515
NM_001142864.4(PIEZO1):c.5569C>T (p.Pro1857Ser) rs35159887 0.22508
NM_001142864.4(PIEZO1):c.465+8C>T rs2242164 0.22253
NM_001142864.4(PIEZO1):c.455C>T (p.Pro152Leu) rs7404939 0.16061
NM_001142864.4(PIEZO1):c.7362C>T (p.Phe2454=) rs35544968 0.12625
NM_001142864.4(PIEZO1):c.7500C>T (p.Tyr2500=) rs1061228 0.10667
NM_001142864.4(PIEZO1):c.5505G>A (p.Ala1835=) rs2290899 0.04287
NM_001142864.4(PIEZO1):c.6288G>A (p.Lys2096=) rs2290900 0.04279
NM_001142864.4(PIEZO1):c.6660+17C>T rs79934624 0.03873
NM_001142864.4(PIEZO1):c.3456-11C>T rs77276858 0.03009
NM_001142864.4(PIEZO1):c.6390G>A (p.Thr2130=) rs34679131 0.02567
NM_001142864.4(PIEZO1):c.4385G>A (p.Arg1462Gln) rs188337046 0.01884
NM_001142864.4(PIEZO1):c.4754A>G (p.Asn1585Ser) rs114034093 0.01717
NM_001142864.4(PIEZO1):c.6678C>T (p.Ser2226=) rs34655152 0.01329
NM_001142864.4(PIEZO1):c.132C>T (p.Phe44=) rs112488313 0.01303
NM_001142864.4(PIEZO1):c.4872A>G (p.Ala1624=) rs35375982 0.01227
NM_001142864.4(PIEZO1):c.263A>G (p.Asp88Gly) rs141202337 0.01151
NM_001142864.4(PIEZO1):c.4475G>A (p.Gly1492Asp) rs8051003 0.01135
NM_001142864.4(PIEZO1):c.6963C>T (p.Asn2321=) rs35917730 0.01098
NM_001142864.4(PIEZO1):c.3363A>G (p.Thr1121=) rs35100558 0.01077
NM_001142864.4(PIEZO1):c.5769C>T (p.Ala1923=) rs2340977 0.01074
NM_001142864.4(PIEZO1):c.6734G>A (p.Arg2245Gln) rs2290901 0.01007
NM_001142864.4(PIEZO1):c.3700-12G>T rs2340979 0.00997
NM_001142864.4(PIEZO1):c.6294C>T (p.Tyr2098=) rs35015310 0.00960
NM_001142864.4(PIEZO1):c.7152C>T (p.Gly2384=) rs78114078 0.00953
NM_001142864.4(PIEZO1):c.7530G>A (p.Pro2510=) rs115423293 0.00871
NM_001142864.4(PIEZO1):c.5828G>A (p.Arg1943Gln) rs115799619 0.00868
NM_001142864.4(PIEZO1):c.5853C>T (p.His1951=) rs138735419 0.00827
NM_001142864.4(PIEZO1):c.7194C>T (p.Thr2398=) rs189107499 0.00796
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.6891C>T (p.Ala2297=) rs34325377 0.00562
NM_001142864.4(PIEZO1):c.7041C>T (p.Asp2347=) rs34352064 0.00535
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.4955+3G>A rs569520386 0.00382
NM_001142864.4(PIEZO1):c.5802-4G>A rs149342271 0.00381
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.5838C>T (p.Phe1946=) rs116855700 0.00288
NM_001142864.4(PIEZO1):c.3935C>T (p.Ala1312Val) rs34246477 0.00274
NM_001142864.4(PIEZO1):c.7495T>C (p.Leu2499=) rs35736353 0.00265
NM_001142864.4(PIEZO1):c.7317-5C>T rs150172633 0.00261
NM_001142864.4(PIEZO1):c.4580G>A (p.Arg1527His) rs148870219 0.00229
NM_001142864.4(PIEZO1):c.7332C>T (p.Tyr2444=) rs140778010 0.00196
NM_001142864.4(PIEZO1):c.3969-12G>A rs200317312 0.00171
NM_001142864.4(PIEZO1):c.64+17C>T rs577170711 0.00156
NM_001142864.4(PIEZO1):c.6822C>T (p.Ser2274=) rs35686439 0.00105
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.6661-12T>G rs540049109 0.00062
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.5312C>T (p.Pro1771Leu) rs202099525 0.00048
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.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.5627G>A (p.Arg1876Lys) rs201967733 0.00025
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.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.3699+20del rs763888718 0.00012
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.6705C>T (p.Phe2235=) rs747798306 0.00010
NM_001142864.4(PIEZO1):c.7195G>A (p.Gly2399Ser) rs545171267 0.00009
NM_001142864.4(PIEZO1):c.7184C>T (p.Ala2395Val) rs201347067 0.00008
NM_001142864.4(PIEZO1):c.5865C>T (p.Arg1955=) rs367814129 0.00006
NM_001142864.4(PIEZO1):c.6660+13G>T rs201519645 0.00006
NM_001142864.4(PIEZO1):c.4674C>T (p.Gly1558=) rs764192930 0.00003
NM_001142864.4(PIEZO1):c.7389G>A (p.Ser2463=) rs536609140 0.00003
NM_001142864.4(PIEZO1):c.5762G>A (p.Arg1921Lys) rs912716084 0.00002
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.3740T>G (p.Phe1247Cys) rs907173644 0.00001
NM_001142864.4(PIEZO1):c.4744G>A (p.Glu1582Lys) rs1040063411 0.00001
NM_001142864.4(PIEZO1):c.5619T>C (p.Phe1873=) rs1433038327 0.00001
NM_001142864.4(PIEZO1):c.172C>T (p.Arg58Cys)
NM_001142864.4(PIEZO1):c.257G>A (p.Arg86His)
NM_001142864.4(PIEZO1):c.3312C>T (p.Leu1104=)
NM_001142864.4(PIEZO1):c.3416G>A (p.Arg1139Gln) rs747323210
NM_001142864.4(PIEZO1):c.3433G>A (p.Val1145Met)
NM_001142864.4(PIEZO1):c.3441C>T (p.Asn1147=)
NM_001142864.4(PIEZO1):c.3578G>T (p.Cys1193Phe)
NM_001142864.4(PIEZO1):c.359G>A (p.Arg120Gln)
NM_001142864.4(PIEZO1):c.3603G>A (p.Thr1201=)
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.3700-35GCCCCGCTG[3] rs143054492
NM_001142864.4(PIEZO1):c.3711C>T (p.Cys1237=)
NM_001142864.4(PIEZO1):c.3712G>A (p.Val1238Ile)
NM_001142864.4(PIEZO1):c.3744C>T (p.Cys1248=)
NM_001142864.4(PIEZO1):c.3796+16G>A rs529764376
NM_001142864.4(PIEZO1):c.3818A>G (p.Asp1273Gly)
NM_001142864.4(PIEZO1):c.3875T>G (p.Phe1292Cys)
NM_001142864.4(PIEZO1):c.3969-5T>C rs4782429
NM_001142864.4(PIEZO1):c.4103G>A (p.Arg1368Gln)
NM_001142864.4(PIEZO1):c.4210C>T (p.Arg1404Trp)
NM_001142864.4(PIEZO1):c.427G>A (p.Ala143Thr)
NM_001142864.4(PIEZO1):c.4316C>T (p.Ser1439Leu)
NM_001142864.4(PIEZO1):c.4388AGCAGG[4] (p.1465EQ[3]) rs11281795
NM_001142864.4(PIEZO1):c.4478C>T (p.Pro1493Leu)
NM_001142864.4(PIEZO1):c.4495+10_4495+14dup rs567560285
NM_001142864.4(PIEZO1):c.4529C>T (p.Thr1510Met)
NM_001142864.4(PIEZO1):c.4530G>A (p.Thr1510=)
NM_001142864.4(PIEZO1):c.4623C>A (p.Asp1541Glu) rs748928863
NM_001142864.4(PIEZO1):c.4640G>A (p.Arg1547His)
NM_001142864.4(PIEZO1):c.4668+13G>A
NM_001142864.4(PIEZO1):c.4701G>A (p.Gln1567=)
NM_001142864.4(PIEZO1):c.4743C>T (p.Thr1581=)
NM_001142864.4(PIEZO1):c.4816G>A (p.Asp1606Asn)
NM_001142864.4(PIEZO1):c.4927C>G (p.Arg1643Gly)
NM_001142864.4(PIEZO1):c.4928G>A (p.Arg1643Gln)
NM_001142864.4(PIEZO1):c.4969C>T (p.Pro1657Ser) rs763940836
NM_001142864.4(PIEZO1):c.5012G>A (p.Arg1671Gln)
NM_001142864.4(PIEZO1):c.5025G>A (p.Leu1675=)
NM_001142864.4(PIEZO1):c.5099T>C (p.Met1700Thr)
NM_001142864.4(PIEZO1):c.5121G>C (p.Ser1707=) rs34346312
NM_001142864.4(PIEZO1):c.5134G>A (p.Val1712Met)
NM_001142864.4(PIEZO1):c.5139C>T (p.Leu1713=) rs369279313
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.5355C>T (p.Tyr1785=)
NM_001142864.4(PIEZO1):c.5515G>A (p.Glu1839Lys) rs77170706
NM_001142864.4(PIEZO1):c.5538C>G (p.Ala1846=) rs8043924
NM_001142864.4(PIEZO1):c.5564C>T (p.Pro1855Leu)
NM_001142864.4(PIEZO1):c.5590C>T (p.Arg1864Cys)
NM_001142864.4(PIEZO1):c.5603G>A (p.Arg1868His)
NM_001142864.4(PIEZO1):c.5629AAG[1] (p.Lys1878del) rs3217718
NM_001142864.4(PIEZO1):c.5632A>G (p.Lys1878Glu)
NM_001142864.4(PIEZO1):c.5636A>G (p.Glu1879Gly)
NM_001142864.4(PIEZO1):c.5653G>A (p.Gly1885Arg)
NM_001142864.4(PIEZO1):c.5743C>A (p.Arg1915Ser) rs13338527
NM_001142864.4(PIEZO1):c.5744G>A (p.Arg1915His)
NM_001142864.4(PIEZO1):c.5774G>A (p.Arg1925Gln)
NM_001142864.4(PIEZO1):c.5778G>A (p.Arg1926=)
NM_001142864.4(PIEZO1):c.5807A>G (p.Gln1936Arg)
NM_001142864.4(PIEZO1):c.5846T>G (p.Ile1949Ser)
NM_001142864.4(PIEZO1):c.5863C>T (p.Arg1955Cys)
NM_001142864.4(PIEZO1):c.5885C>T (p.Ala1962Val)
NM_001142864.4(PIEZO1):c.5960C>T (p.Ala1987Val)
NM_001142864.4(PIEZO1):c.5991C>T (p.Asp1997=)
NM_001142864.4(PIEZO1):c.6223G>A (p.Ala2075Thr)
NM_001142864.4(PIEZO1):c.6231C>G (p.Ser2077=)
NM_001142864.4(PIEZO1):c.6356G>A (p.Arg2119Gln)
NM_001142864.4(PIEZO1):c.64+12dup
NM_001142864.4(PIEZO1):c.6443T>C (p.Ile2148Thr)
NM_001142864.4(PIEZO1):c.6494AGA[4] (p.Lys2169del) rs763477215
NM_001142864.4(PIEZO1):c.65-17C>G rs149858134
NM_001142864.4(PIEZO1):c.6584C>T (p.Ser2195Leu)
NM_001142864.4(PIEZO1):c.6651C>A (p.Gly2217=) rs117669855
NM_001142864.4(PIEZO1):c.6652G>A (p.Gly2218Ser)
NM_001142864.4(PIEZO1):c.6796G>A (p.Val2266Ile) rs546338962
NM_001142864.4(PIEZO1):c.6827C>T (p.Ala2276Val)
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.7150G>A (p.Gly2384Ser)
NM_001142864.4(PIEZO1):c.7219G>C (p.Glu2407Gln)
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.7369G>A (p.Gly2457Arg)
NM_001142864.4(PIEZO1):c.7561G>C (p.Glu2521Gln)

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