ClinVar Miner

List of variants in gene PIEZO1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 269
Download table as spreadsheet
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.4495+4C>T rs140520334 0.00562
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.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.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.3667G>A (p.Val1223Ile) rs185326407 0.00296
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.4580G>A (p.Arg1527His) rs148870219 0.00229
NM_001142864.4(PIEZO1):c.7426C>T (p.Arg2476Cys) rs144035770 0.00225
NM_001142864.4(PIEZO1):c.7332C>T (p.Tyr2444=) rs140778010 0.00196
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.6903G>A (p.Leu2301=) rs147479380 0.00160
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.6164+10C>T rs190051638 0.00089
NM_001142864.4(PIEZO1):c.4668+12C>T rs368128554 0.00087
NM_001142864.4(PIEZO1):c.4997C>T (p.Ala1666Val) rs561397138 0.00085
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.7129+3G>A rs767465849 0.00076
NM_001142864.4(PIEZO1):c.6144C>T (p.Ile2048=) rs372939960 0.00071
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.4955+8C>T rs533263001 0.00058
NM_001142864.4(PIEZO1):c.6905G>A (p.Arg2302His) rs200555745 0.00058
NM_001142864.4(PIEZO1):c.3437C>T (p.Pro1146Leu) rs538640563 0.00056
NM_001142864.4(PIEZO1):c.7006C>T (p.Arg2336Trp) rs374203151 0.00053
NM_001142864.4(PIEZO1):c.7153G>A (p.Val2385Met) rs369319123 0.00053
NM_001142864.4(PIEZO1):c.4371G>A (p.Ala1457=) rs565293295 0.00051
NM_001142864.4(PIEZO1):c.4274G>A (p.Ser1425Asn) rs772788410 0.00050
NM_001142864.4(PIEZO1):c.6164+12C>T rs756049905 0.00045
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.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.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.4291G>C (p.Ala1431Pro) rs200653120 0.00019
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.7183G>A (p.Ala2395Thr) rs1018199395 0.00016
NM_001142864.4(PIEZO1):c.7204G>C (p.Glu2402Gln) rs773860217 0.00016
NM_001142864.4(PIEZO1):c.5656G>A (p.Ala1886Thr) rs757753448 0.00014
NM_001142864.4(PIEZO1):c.4289A>T (p.Glu1430Val) rs202066744 0.00013
NM_001142864.4(PIEZO1):c.4496-13C>T rs543403418 0.00013
NM_001142864.4(PIEZO1):c.3969-14C>T rs750182116 0.00012
NM_001142864.4(PIEZO1):c.7099G>A (p.Glu2367Lys) rs552562531 0.00012
NM_001142864.4(PIEZO1):c.5068C>T (p.Leu1690Phe) rs992621550 0.00011
NM_001142864.4(PIEZO1):c.6705C>T (p.Phe2235=) rs747798306 0.00010
NM_001142864.4(PIEZO1):c.6906C>T (p.Arg2302=) rs570953388 0.00010
NM_001142864.4(PIEZO1):c.7558A>G (p.Lys2520Glu) rs570744198 0.00010
NM_001142864.4(PIEZO1):c.4111C>T (p.Arg1371Cys) rs570638507 0.00009
NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu) rs750027720 0.00009
NM_001142864.4(PIEZO1):c.6553G>A (p.Ala2185Thr) rs376951269 0.00009
NM_001142864.4(PIEZO1):c.6471+3G>A rs771317251 0.00008
NM_001142864.4(PIEZO1):c.7381G>A (p.Glu2461Lys) rs371391349 0.00007
NM_001142864.4(PIEZO1):c.5214+15C>T rs766231050 0.00006
NM_001142864.4(PIEZO1):c.5822C>T (p.Pro1941Leu) rs761049480 0.00006
NM_001142864.4(PIEZO1):c.6070C>T (p.Arg2024Cys) rs549757408 0.00006
NM_001142864.4(PIEZO1):c.4499G>A (p.Arg1500Gln) rs1461948204 0.00005
NM_001142864.4(PIEZO1):c.4850C>T (p.Thr1617Met) rs906425217 0.00005
NM_001142864.4(PIEZO1):c.6479C>T (p.Pro2160Leu) rs753068603 0.00005
NM_001142864.4(PIEZO1):c.146G>A (p.Arg49Gln) rs779186692 0.00004
NM_001142864.4(PIEZO1):c.4775+9G>A rs758431569 0.00004
NM_001142864.4(PIEZO1):c.4884C>T (p.Pro1628=) rs975165548 0.00004
NM_001142864.4(PIEZO1):c.4958G>A (p.Arg1653His) rs992473797 0.00004
NM_001142864.4(PIEZO1):c.5615G>A (p.Arg1872His) rs1004130638 0.00004
NM_001142864.4(PIEZO1):c.6249C>T (p.Cys2083=) rs372557703 0.00004
NM_001142864.4(PIEZO1):c.6375G>A (p.Val2125=) rs948359372 0.00004
NM_001142864.4(PIEZO1):c.7169G>A (p.Arg2390Gln) rs377011269 0.00004
NM_001142864.4(PIEZO1):c.352G>A (p.Ala118Thr) rs752004128 0.00003
NM_001142864.4(PIEZO1):c.4234+18G>A rs778887008 0.00003
NM_001142864.4(PIEZO1):c.4674C>T (p.Gly1558=) rs764192930 0.00003
NM_001142864.4(PIEZO1):c.5390G>A (p.Arg1797His) rs759786040 0.00003
NM_001142864.4(PIEZO1):c.6471+9G>A rs761913079 0.00003
NM_001142864.4(PIEZO1):c.6754-15G>A rs761514562 0.00003
NM_001142864.4(PIEZO1):c.150C>T (p.Cys50=) rs934325198 0.00002
NM_001142864.4(PIEZO1):c.219C>G (p.Ala73=) rs895722966 0.00002
NM_001142864.4(PIEZO1):c.4007T>C (p.Ile1336Thr) rs141785047 0.00002
NM_001142864.4(PIEZO1):c.4009G>A (p.Asp1337Asn) rs904289669 0.00002
NM_001142864.4(PIEZO1):c.-18G>A rs1264379107 0.00001
NM_001142864.4(PIEZO1):c.3399C>T (p.Asp1133=) rs763870469 0.00001
NM_001142864.4(PIEZO1):c.3461A>G (p.Tyr1154Cys) rs1348948980 0.00001
NM_001142864.4(PIEZO1):c.3523T>G (p.Phe1175Val) rs773476725 0.00001
NM_001142864.4(PIEZO1):c.3556G>A (p.Gly1186Arg) rs536842871 0.00001
NM_001142864.4(PIEZO1):c.3740T>G (p.Phe1247Cys) rs907173644 0.00001
NM_001142864.4(PIEZO1):c.3796+1G>A rs869025599 0.00001
NM_001142864.4(PIEZO1):c.5433C>G (p.Asp1811Glu) rs1351344839 0.00001
NM_001142864.4(PIEZO1):c.5598G>C (p.Thr1866=) rs943633234 0.00001
NM_001142864.4(PIEZO1):c.5619T>C (p.Phe1873=) rs1433038327 0.00001
NM_001142864.4(PIEZO1):c.6160G>C (p.Glu2054Gln) rs1334902592 0.00001
NM_001142864.4(PIEZO1):c.6333G>A (p.Leu2111=) rs897031749 0.00001
NM_001142864.4(PIEZO1):c.6421G>A (p.Asp2141Asn) rs781566440 0.00001
NM_001142864.4(PIEZO1):c.6750G>A (p.Gln2250=) rs1190241831 0.00001
NM_001142864.4(PIEZO1):c.6800C>T (p.Thr2267Met) rs868467734 0.00001
NM_001142864.4(PIEZO1):c.6892G>A (p.Asp2298Asn) rs760099159 0.00001
NM_001142864.4(PIEZO1):c.7130-5C>A rs1357808025 0.00001
NM_001142864.4(PIEZO1):c.7316G>A (p.Gly2439Asp) rs1353678309 0.00001
NM_001142864.4(PIEZO1):c.7387T>G (p.Ser2463Ala) rs780322188 0.00001
NM_001142864.4(PIEZO1):c.112C>T (p.Leu38=)
NM_001142864.4(PIEZO1):c.120_125dup (p.Leu41_Pro42dup) rs1906266156
NM_001142864.4(PIEZO1):c.284-15C>G
NM_001142864.4(PIEZO1):c.3324C>T (p.Cys1108=)
NM_001142864.4(PIEZO1):c.3433G>A (p.Val1145Met)
NM_001142864.4(PIEZO1):c.3501C>T (p.Phe1167=)
NM_001142864.4(PIEZO1):c.359G>A (p.Arg120Gln)
NM_001142864.4(PIEZO1):c.3625C>T (p.Arg1209Trp)
NM_001142864.4(PIEZO1):c.3626G>A (p.Arg1209Gln)
NM_001142864.4(PIEZO1):c.3672C>T (p.Thr1224=) rs551750587
NM_001142864.4(PIEZO1):c.3699+20G>C rs4424896
NM_001142864.4(PIEZO1):c.3699+20_3699+21delinsCG rs1904465031
NM_001142864.4(PIEZO1):c.3700-18_3700-17insCCCCGCTGGCCCCGCTGA
NM_001142864.4(PIEZO1):c.3700-35GCCCCGCTG[3] rs143054492
NM_001142864.4(PIEZO1):c.375C>T (p.Asp125=) rs753335111
NM_001142864.4(PIEZO1):c.3783G>C (p.Lys1261Asn)
NM_001142864.4(PIEZO1):c.3796+16G>A rs529764376
NM_001142864.4(PIEZO1):c.3796C>A (p.Pro1266Thr)
NM_001142864.4(PIEZO1):c.3864C>T (p.Asp1288=)
NM_001142864.4(PIEZO1):c.3969-5T>C rs4782429
NM_001142864.4(PIEZO1):c.3983A>C (p.Tyr1328Ser)
NM_001142864.4(PIEZO1):c.4041G>A (p.Leu1347=)
NM_001142864.4(PIEZO1):c.4149C>T (p.Pro1383=) rs548943574
NM_001142864.4(PIEZO1):c.4163-3C>T rs1315355781
NM_001142864.4(PIEZO1):c.4180G>A (p.Gly1394Ser)
NM_001142864.4(PIEZO1):c.4211G>C (p.Arg1404Pro) rs565593847
NM_001142864.4(PIEZO1):c.4212G>C (p.Arg1404=)
NM_001142864.4(PIEZO1):c.4215C>G (p.Pro1405=)
NM_001142864.4(PIEZO1):c.4275_4278del (p.Ser1425fs) rs1904304634
NM_001142864.4(PIEZO1):c.4284G>A (p.Glu1428=) rs1372151973
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.4495+10_4495+14dup rs567560285
NM_001142864.4(PIEZO1):c.4556A>C (p.Gln1519Pro)
NM_001142864.4(PIEZO1):c.4620C>T (p.Ser1540=)
NM_001142864.4(PIEZO1):c.4775+17C>T
NM_001142864.4(PIEZO1):c.4785C>T (p.Gly1595=)
NM_001142864.4(PIEZO1):c.4955+16G>T
NM_001142864.4(PIEZO1):c.4955+19C>G
NM_001142864.4(PIEZO1):c.4956-17C>T
NM_001142864.4(PIEZO1):c.4998G>A (p.Ala1666=)
NM_001142864.4(PIEZO1):c.5054C>T (p.Ala1685Val) rs1008288721
NM_001142864.4(PIEZO1):c.5098A>G (p.Met1700Val)
NM_001142864.4(PIEZO1):c.5121G>C (p.Ser1707=) rs34346312
NM_001142864.4(PIEZO1):c.5134G>C (p.Val1712Leu) rs760732001
NM_001142864.4(PIEZO1):c.5139C>T (p.Leu1713=) rs369279313
NM_001142864.4(PIEZO1):c.5214+16G>T
NM_001142864.4(PIEZO1):c.5243A>C (p.Gln1748Pro) rs1597445087
NM_001142864.4(PIEZO1):c.5289C>T (p.Tyr1763=) rs72811487
NM_001142864.4(PIEZO1):c.5290G>C (p.Glu1764Gln) rs749976222
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.5404-1G>C rs2142764905
NM_001142864.4(PIEZO1):c.5464G>C (p.Glu1822Gln) rs762151744
NM_001142864.4(PIEZO1):c.5475G>A (p.Gln1825=)
NM_001142864.4(PIEZO1):c.5482G>A (p.Glu1828Lys)
NM_001142864.4(PIEZO1):c.5507C>A (p.Ala1836Asp) rs2142764441
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.5598G>A (p.Thr1866=)
NM_001142864.4(PIEZO1):c.5629AAG[1] (p.Lys1878del) rs3217718
NM_001142864.4(PIEZO1):c.5632_5633delinsG (p.Lys1878fs) rs1201505647
NM_001142864.4(PIEZO1):c.5636A>G (p.Glu1879Gly)
NM_001142864.4(PIEZO1):c.5706G>A (p.Glu1902=)
NM_001142864.4(PIEZO1):c.5743C>A (p.Arg1915Ser) rs13338527
NM_001142864.4(PIEZO1):c.5778G>A (p.Arg1926=)
NM_001142864.4(PIEZO1):c.5833TTC[1] (p.Phe1946del) rs1912355263
NM_001142864.4(PIEZO1):c.5846T>G (p.Ile1949Ser)
NM_001142864.4(PIEZO1):c.5920A>G (p.Ile1974Val)
NM_001142864.4(PIEZO1):c.5934C>T (p.Gly1978=) rs760875854
NM_001142864.4(PIEZO1):c.5991C>T (p.Asp1997=)
NM_001142864.4(PIEZO1):c.6007G>A (p.Ala2003Thr) rs1912332137
NM_001142864.4(PIEZO1):c.6107C>T (p.Ala2036Val)
NM_001142864.4(PIEZO1):c.6108G>T (p.Ala2036=)
NM_001142864.4(PIEZO1):c.6231C>G (p.Ser2077=)
NM_001142864.4(PIEZO1):c.6250G>A (p.Gly2084Ser)
NM_001142864.4(PIEZO1):c.6328C>T (p.Arg2110Trp)
NM_001142864.4(PIEZO1):c.6342C>G (p.Phe2114Leu)
NM_001142864.4(PIEZO1):c.6353T>A (p.Leu2118Gln)
NM_001142864.4(PIEZO1):c.64+12G>T rs1207737714
NM_001142864.4(PIEZO1):c.64+7G>C
NM_001142864.4(PIEZO1):c.6494AGA[4] (p.Lys2169del) rs763477215
NM_001142864.4(PIEZO1):c.65-17C>G rs149858134
NM_001142864.4(PIEZO1):c.6519C>T (p.Tyr2173=)
NM_001142864.4(PIEZO1):c.6651C>A (p.Gly2217=) rs117669855
NM_001142864.4(PIEZO1):c.6782G>C (p.Ser2261Thr) rs1912065147
NM_001142864.4(PIEZO1):c.6796G>A (p.Val2266Ile) rs546338962
NM_001142864.4(PIEZO1):c.6803C>T (p.Ala2268Val)
NM_001142864.4(PIEZO1):c.6886A>C (p.Thr2296Pro)
NM_001142864.4(PIEZO1):c.6926+5G>A
NM_001142864.4(PIEZO1):c.6927-19G>A
NM_001142864.4(PIEZO1):c.7007G>A (p.Arg2336Gln)
NM_001142864.4(PIEZO1):c.7151G>C (p.Gly2384Ala)
NM_001142864.4(PIEZO1):c.7366C>A (p.Arg2456Ser)
NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His) rs587776988
NM_001142864.4(PIEZO1):c.7368C>T (p.Arg2456=)
NM_001142864.4(PIEZO1):c.7431C>G (p.Ile2477Met) rs772748505
NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup) rs755226463
NM_001142864.4(PIEZO1):c.7477CTGGAG[3] (p.2493LE[3]) rs587776992
NM_001142864.4(PIEZO1):c.7522C>A (p.Arg2508Ser)

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.