ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 68
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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.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.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.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.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.4955+3G>A rs569520386 0.00382
NM_001142864.4(PIEZO1):c.5802-4G>A rs149342271 0.00381
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.7495T>C (p.Leu2499=) rs35736353 0.00265
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.3813C>T (p.Asp1271=) rs116683709 0.00138
NM_001142864.4(PIEZO1):c.4955+8C>T rs533263001 0.00058
NM_001142864.4(PIEZO1):c.6804G>A (p.Ala2268=) rs371847339 0.00045
NM_001142864.4(PIEZO1):c.6471+3G>A rs771317251 0.00008
NM_001142864.4(PIEZO1):c.4674C>T (p.Gly1558=) rs764192930 0.00003
NM_001142864.4(PIEZO1):c.6471+9G>A rs761913079 0.00003
NM_001142864.4(PIEZO1):c.3699+20_3699+21delinsCG rs1904465031
NM_001142864.4(PIEZO1):c.3700-35GCCCCGCTG[3] rs143054492
NM_001142864.4(PIEZO1):c.3796+16G>A rs529764376
NM_001142864.4(PIEZO1):c.3969-5T>C rs4782429
NM_001142864.4(PIEZO1):c.4149C>T (p.Pro1383=) rs548943574
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.4956-17C>T
NM_001142864.4(PIEZO1):c.5121G>C (p.Ser1707=) rs34346312
NM_001142864.4(PIEZO1):c.5289C>T (p.Tyr1763=) rs72811487
NM_001142864.4(PIEZO1):c.5538C>G (p.Ala1846=) rs8043924
NM_001142864.4(PIEZO1):c.5629AAG[1] (p.Lys1878del) rs3217718
NM_001142864.4(PIEZO1):c.6231C>G (p.Ser2077=)
NM_001142864.4(PIEZO1):c.64+12G>T rs1207737714
NM_001142864.4(PIEZO1):c.65-17C>G rs149858134
NM_001142864.4(PIEZO1):c.6651C>A (p.Gly2217=) rs117669855

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