ClinVar Miner

List of variants in gene PIEZO1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_001142864.4(PIEZO1):c.6963C>T (p.Asn2321=) rs35917730 0.01098
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.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.5694G>C (p.Glu1898Asp) rs201829917 0.00472
NM_001142864.4(PIEZO1):c.5461G>A (p.Gly1821Ser) rs78574543 0.00327
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.4580G>A (p.Arg1527His) rs148870219 0.00229
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.3636C>T (p.Leu1212=) rs112343464 0.00118
NM_001142864.4(PIEZO1):c.7374C>G (p.Phe2458Leu) rs202127176 0.00112
NM_001142864.4(PIEZO1):c.6822C>T (p.Ser2274=) rs35686439 0.00105
NM_001142864.4(PIEZO1):c.5148G>T (p.Leu1716=) rs375856338 0.00096
NM_001142864.4(PIEZO1):c.5773C>T (p.Arg1925Trp) rs201442593 0.00069
NM_001142864.4(PIEZO1):c.3597C>T (p.Phe1199=) rs370654806 0.00065
NM_001142864.4(PIEZO1):c.6307C>G (p.Leu2103Val) rs531972155 0.00038
NM_001142864.4(PIEZO1):c.5112C>T (p.Ser1704=) rs374215951 0.00020
NM_001142864.4(PIEZO1):c.4737C>A (p.Gly1579=) rs560777575 0.00016
NM_001142864.4(PIEZO1):c.5133C>T (p.Pro1711=) rs181441468 0.00016
NM_001142864.4(PIEZO1):c.6829C>A (p.Leu2277Met) rs563555492 0.00016
NM_001142864.4(PIEZO1):c.4439-8G>T rs777304709 0.00010
NM_001142864.4(PIEZO1):c.7381G>A (p.Glu2461Lys) rs371391349 0.00007
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.7218C>T (p.Ile2406=) rs941628877 0.00001
NM_001142864.4(PIEZO1):c.141C>T (p.Pro47=)
NM_001142864.4(PIEZO1):c.305C>T (p.Ser102Leu)
NM_001142864.4(PIEZO1):c.3312C>T (p.Leu1104=)
NM_001142864.4(PIEZO1):c.3330C>T (p.Ser1110=)
NM_001142864.4(PIEZO1):c.3542G>A (p.Arg1181His)
NM_001142864.4(PIEZO1):c.3632G>A (p.Arg1211His)
NM_001142864.4(PIEZO1):c.3734C>T (p.Thr1245Ile)
NM_001142864.4(PIEZO1):c.3798C>T (p.Pro1266=)
NM_001142864.4(PIEZO1):c.3951C>T (p.Thr1317=)
NM_001142864.4(PIEZO1):c.402C>T (p.Val134=)
NM_001142864.4(PIEZO1):c.4350A>G (p.Ala1450=)
NM_001142864.4(PIEZO1):c.4530G>A (p.Thr1510=)
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.4877C>T (p.Thr1626Ile)
NM_001142864.4(PIEZO1):c.4939G>A (p.Glu1647Lys)
NM_001142864.4(PIEZO1):c.4965C>T (p.Arg1655=)
NM_001142864.4(PIEZO1):c.4969C>T (p.Pro1657Ser) rs763940836
NM_001142864.4(PIEZO1):c.4994T>C (p.Phe1665Ser)
NM_001142864.4(PIEZO1):c.5029C>T (p.Arg1677Trp)
NM_001142864.4(PIEZO1):c.5030G>A (p.Arg1677Gln)
NM_001142864.4(PIEZO1):c.5139C>T (p.Leu1713=) rs369279313
NM_001142864.4(PIEZO1):c.5206T>C (p.Phe1736Leu)
NM_001142864.4(PIEZO1):c.5290G>T (p.Glu1764Ter) rs749976222
NM_001142864.4(PIEZO1):c.5413C>T (p.Leu1805Phe) rs201769196
NM_001142864.4(PIEZO1):c.5553G>A (p.Thr1851=)
NM_001142864.4(PIEZO1):c.5652A>G (p.Lys1884=)
NM_001142864.4(PIEZO1):c.5802G>A (p.Leu1934=)
NM_001142864.4(PIEZO1):c.5820G>A (p.Arg1940=)
NM_001142864.4(PIEZO1):c.6073_6074del (p.Lys2025fs)
NM_001142864.4(PIEZO1):c.6231C>G (p.Ser2077=)
NM_001142864.4(PIEZO1):c.6264C>T (p.Arg2088=)
NM_001142864.4(PIEZO1):c.6381G>A (p.Thr2127=)
NM_001142864.4(PIEZO1):c.6398T>C (p.Leu2133Pro)
NM_001142864.4(PIEZO1):c.6473A>T (p.Lys2158Ile)
NM_001142864.4(PIEZO1):c.6651C>A (p.Gly2217=) rs117669855
NM_001142864.4(PIEZO1):c.6789G>C (p.Glu2263Asp)
NM_001142864.4(PIEZO1):c.7005G>T (p.Arg2335=)
NM_001142864.4(PIEZO1):c.7007G>A (p.Arg2336Gln)
NM_001142864.4(PIEZO1):c.7092C>A (p.Asn2364Lys) rs953643803
NM_001142864.4(PIEZO1):c.7149C>T (p.Leu2383=)
NM_001142864.4(PIEZO1):c.7219G>C (p.Glu2407Gln)
NM_001142864.4(PIEZO1):c.7368C>T (p.Arg2456=)
NM_001142864.4(PIEZO1):c.7477CTGGAG[3] (p.2493LE[3]) rs587776992

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