ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 108
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HGVS dbSNP gnomAD frequency
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.5828G>A (p.Arg1943Gln) rs115799619 0.00868
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.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.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 0.00225
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.5728G>A (p.Glu1910Lys) rs200929552 0.00156
NM_001142864.4(PIEZO1):c.64+17C>T rs577170711 0.00156
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.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.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.3699+6C>T rs147726156 0.00060
NM_001142864.4(PIEZO1):c.6205G>A (p.Val2069Met) rs199752762 0.00059
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.6164+12C>T rs756049905 0.00045
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.284-4G>A rs543289166 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.4496-13C>T rs543403418 0.00013
NM_001142864.4(PIEZO1):c.3969-14C>T rs750182116 0.00012
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.5214+15C>T rs766231050 0.00006
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.6249C>T (p.Cys2083=) rs372557703 0.00004
NM_001142864.4(PIEZO1):c.7169G>A (p.Arg2390Gln) rs377011269 0.00004
NM_001142864.4(PIEZO1):c.4234+18G>A rs778887008 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.-18G>A rs1264379107 0.00001
NM_001142864.4(PIEZO1):c.3399C>T (p.Asp1133=) rs763870469 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.6333G>A (p.Leu2111=) rs897031749 0.00001
NM_001142864.4(PIEZO1):c.6750G>A (p.Gln2250=) rs1190241831 0.00001
NM_001142864.4(PIEZO1):c.112C>T (p.Leu38=)
NM_001142864.4(PIEZO1):c.284-15C>G
NM_001142864.4(PIEZO1):c.3324C>T (p.Cys1108=)
NM_001142864.4(PIEZO1):c.3501C>T (p.Phe1167=)
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.3700-18_3700-17insCCCCGCTGGCCCCGCTGA
NM_001142864.4(PIEZO1):c.375C>T (p.Asp125=) rs753335111
NM_001142864.4(PIEZO1):c.3864C>T (p.Asp1288=)
NM_001142864.4(PIEZO1):c.4041G>A (p.Leu1347=)
NM_001142864.4(PIEZO1):c.4163-3C>T rs1315355781
NM_001142864.4(PIEZO1):c.4212G>C (p.Arg1404=)
NM_001142864.4(PIEZO1):c.4215C>G (p.Pro1405=)
NM_001142864.4(PIEZO1):c.4284G>A (p.Glu1428=) rs1372151973
NM_001142864.4(PIEZO1):c.4316C>T (p.Ser1439Leu)
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.4998G>A (p.Ala1666=)
NM_001142864.4(PIEZO1):c.5139C>T (p.Leu1713=) rs369279313
NM_001142864.4(PIEZO1):c.5214+16G>T
NM_001142864.4(PIEZO1):c.5340C>T (p.Asp1780=) rs372159659
NM_001142864.4(PIEZO1):c.5393C>T (p.Ser1798Phe)
NM_001142864.4(PIEZO1):c.5475G>A (p.Gln1825=)
NM_001142864.4(PIEZO1):c.5515G>A (p.Glu1839Lys) rs77170706
NM_001142864.4(PIEZO1):c.5598G>A (p.Thr1866=)
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.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.6108G>T (p.Ala2036=)
NM_001142864.4(PIEZO1):c.64+7G>C
NM_001142864.4(PIEZO1):c.6494AGA[4] (p.Lys2169del) rs763477215
NM_001142864.4(PIEZO1):c.6519C>T (p.Tyr2173=)
NM_001142864.4(PIEZO1):c.6886A>C (p.Thr2296Pro)
NM_001142864.4(PIEZO1):c.6927-19G>A
NM_001142864.4(PIEZO1):c.7368C>T (p.Arg2456=)

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