ClinVar Miner

List of variants in gene PIEZO1 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 167
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HGVS dbSNP gnomAD frequency
NM_001142864.4(PIEZO1):c.4363G>A (p.Ala1455Thr) rs191656121 0.00156
NM_001142864.4(PIEZO1):c.3793G>A (p.Asp1265Asn) rs570106950 0.00136
NM_001142864.4(PIEZO1):c.5291A>C (p.Glu1764Ala) rs530387460 0.00077
NM_001142864.4(PIEZO1):c.7174G>A (p.Glu2392Lys) rs528448732 0.00048
NM_001142864.4(PIEZO1):c.6781A>G (p.Ser2261Gly) rs550322372 0.00047
NM_001142864.4(PIEZO1):c.4539C>G (p.Phe1513Leu) rs377025920 0.00040
NM_001142864.4(PIEZO1):c.4252T>C (p.Tyr1418His) rs147153006 0.00036
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.6154G>A (p.Val2052Ile) rs564395221 0.00024
NM_001142864.4(PIEZO1):c.4291G>C (p.Ala1431Pro) rs200653120 0.00019
NM_001142864.4(PIEZO1):c.4036T>G (p.Ser1346Ala) rs373732822 0.00018
NM_001142864.4(PIEZO1):c.7204G>C (p.Glu2402Gln) rs773860217 0.00016
NM_001142864.4(PIEZO1):c.3410C>T (p.Pro1137Leu) rs745987597 0.00015
NM_001142864.4(PIEZO1):c.4289A>T (p.Glu1430Val) rs202066744 0.00013
NM_001142864.4(PIEZO1):c.3395C>G (p.Thr1132Ser) rs767222696 0.00011
NM_001142864.4(PIEZO1):c.4111C>T (p.Arg1371Cys) rs570638507 0.00009
NM_001142864.4(PIEZO1):c.7195G>A (p.Gly2399Ser) rs545171267 0.00009
NM_001142864.4(PIEZO1):c.3376C>T (p.Arg1126Cys) rs753243797 0.00006
NM_001142864.4(PIEZO1):c.7501G>A (p.Ala2501Thr) rs922432809 0.00006
NM_001142864.4(PIEZO1):c.146G>A (p.Arg49Gln) rs779186692 0.00004
NM_001142864.4(PIEZO1):c.4853G>A (p.Arg1618His) rs752059066 0.00004
NM_001142864.4(PIEZO1):c.4027G>A (p.Glu1343Lys) rs897720806 0.00003
NM_001142864.4(PIEZO1):c.5390G>A (p.Arg1797His) rs759786040 0.00003
NM_001142864.4(PIEZO1):c.7091A>G (p.Asn2364Ser) rs1013412353 0.00002
NM_001142864.4(PIEZO1):c.5295C>G (p.Asn1765Lys) rs191843423 0.00001
NM_001142864.4(PIEZO1):c.5557G>A (p.Gly1853Arg) rs367636785 0.00001
NM_001142864.4(PIEZO1):c.6800C>T (p.Thr2267Met) rs868467734 0.00001
NM_001142864.4(PIEZO1):c.140C>G (p.Pro47Arg)
NM_001142864.4(PIEZO1):c.161G>T (p.Gly54Val)
NM_001142864.4(PIEZO1):c.166A>C (p.Thr56Pro)
NM_001142864.4(PIEZO1):c.167C>T (p.Thr56Ile)
NM_001142864.4(PIEZO1):c.176T>C (p.Leu59Pro)
NM_001142864.4(PIEZO1):c.289C>G (p.Arg97Gly)
NM_001142864.4(PIEZO1):c.3223G>T (p.Val1075Phe)
NM_001142864.4(PIEZO1):c.3274C>T (p.Arg1092Trp)
NM_001142864.4(PIEZO1):c.328C>G (p.Leu110Val)
NM_001142864.4(PIEZO1):c.3325G>A (p.Ala1109Thr)
NM_001142864.4(PIEZO1):c.3326C>T (p.Ala1109Val)
NM_001142864.4(PIEZO1):c.3358C>T (p.Arg1120Cys)
NM_001142864.4(PIEZO1):c.3361A>G (p.Thr1121Ala)
NM_001142864.4(PIEZO1):c.3395C>T (p.Thr1132Ile)
NM_001142864.4(PIEZO1):c.3400C>A (p.Arg1134Ser)
NM_001142864.4(PIEZO1):c.3400C>G (p.Arg1134Gly)
NM_001142864.4(PIEZO1):c.3559C>G (p.Leu1187Val)
NM_001142864.4(PIEZO1):c.355A>C (p.Ile119Leu)
NM_001142864.4(PIEZO1):c.3626G>A (p.Arg1209Gln)
NM_001142864.4(PIEZO1):c.3632G>A (p.Arg1211His)
NM_001142864.4(PIEZO1):c.3641T>C (p.Leu1214Pro)
NM_001142864.4(PIEZO1):c.3712G>A (p.Val1238Ile)
NM_001142864.4(PIEZO1):c.3728T>C (p.Met1243Thr)
NM_001142864.4(PIEZO1):c.3781A>C (p.Lys1261Gln)
NM_001142864.4(PIEZO1):c.3783G>C (p.Lys1261Asn)
NM_001142864.4(PIEZO1):c.3809T>C (p.Met1270Thr)
NM_001142864.4(PIEZO1):c.3810G>A (p.Met1270Ile)
NM_001142864.4(PIEZO1):c.3858C>G (p.Ile1286Met)
NM_001142864.4(PIEZO1):c.3886C>A (p.Leu1296Met)
NM_001142864.4(PIEZO1):c.3907C>T (p.Leu1303Phe)
NM_001142864.4(PIEZO1):c.3923T>C (p.Leu1308Pro)
NM_001142864.4(PIEZO1):c.4015C>T (p.His1339Tyr)
NM_001142864.4(PIEZO1):c.4019G>A (p.Arg1340His)
NM_001142864.4(PIEZO1):c.4067G>A (p.Arg1356His)
NM_001142864.4(PIEZO1):c.4102C>T (p.Arg1368Trp)
NM_001142864.4(PIEZO1):c.4150G>A (p.Gly1384Ser)
NM_001142864.4(PIEZO1):c.4180G>A (p.Gly1394Ser)
NM_001142864.4(PIEZO1):c.4181G>C (p.Gly1394Ala)
NM_001142864.4(PIEZO1):c.4199G>A (p.Arg1400Lys)
NM_001142864.4(PIEZO1):c.4210C>T (p.Arg1404Trp)
NM_001142864.4(PIEZO1):c.4211G>A (p.Arg1404Gln)
NM_001142864.4(PIEZO1):c.4211G>C (p.Arg1404Pro) rs565593847
NM_001142864.4(PIEZO1):c.4275_4278del (p.Ser1425fs) rs1904304634
NM_001142864.4(PIEZO1):c.427G>A (p.Ala143Thr)
NM_001142864.4(PIEZO1):c.4304A>C (p.Asp1435Ala)
NM_001142864.4(PIEZO1):c.4340C>T (p.Ala1447Val)
NM_001142864.4(PIEZO1):c.4361A>G (p.Asn1454Ser)
NM_001142864.4(PIEZO1):c.4364C>T (p.Ala1455Val)
NM_001142864.4(PIEZO1):c.4370C>T (p.Ala1457Val)
NM_001142864.4(PIEZO1):c.439C>T (p.Arg147Trp)
NM_001142864.4(PIEZO1):c.4420G>A (p.Ala1474Thr)
NM_001142864.4(PIEZO1):c.4451G>A (p.Ser1484Asn)
NM_001142864.4(PIEZO1):c.4492G>A (p.Ala1498Thr)
NM_001142864.4(PIEZO1):c.4529C>T (p.Thr1510Met)
NM_001142864.4(PIEZO1):c.4567G>C (p.Asp1523His)
NM_001142864.4(PIEZO1):c.457C>T (p.Arg153Trp)
NM_001142864.4(PIEZO1):c.458G>A (p.Arg153Gln)
NM_001142864.4(PIEZO1):c.4609G>A (p.Gly1537Ser)
NM_001142864.4(PIEZO1):c.4609G>C (p.Gly1537Arg)
NM_001142864.4(PIEZO1):c.4672G>A (p.Gly1558Ser)
NM_001142864.4(PIEZO1):c.4675G>A (p.Glu1559Lys)
NM_001142864.4(PIEZO1):c.4690G>A (p.Val1564Met)
NM_001142864.4(PIEZO1):c.4713C>G (p.Ser1571Arg) rs564248341
NM_001142864.4(PIEZO1):c.4727C>T (p.Thr1576Met)
NM_001142864.4(PIEZO1):c.4768G>A (p.Val1590Met)
NM_001142864.4(PIEZO1):c.4776T>C (p.Ser1592=)
NM_001142864.4(PIEZO1):c.4786G>A (p.Ala1596Thr)
NM_001142864.4(PIEZO1):c.4799T>C (p.Leu1600Pro)
NM_001142864.4(PIEZO1):c.4822G>A (p.Gly1608Ser)
NM_001142864.4(PIEZO1):c.4826G>A (p.Ser1609Asn)
NM_001142864.4(PIEZO1):c.4879G>A (p.Asp1627Asn)
NM_001142864.4(PIEZO1):c.4881C>A (p.Asp1627Glu)
NM_001142864.4(PIEZO1):c.4957C>T (p.Arg1653Cys)
NM_001142864.4(PIEZO1):c.4964G>A (p.Arg1655His)
NM_001142864.4(PIEZO1):c.5011C>T (p.Arg1671Trp)
NM_001142864.4(PIEZO1):c.5029C>T (p.Arg1677Trp)
NM_001142864.4(PIEZO1):c.5047G>C (p.Val1683Leu)
NM_001142864.4(PIEZO1):c.5054C>T (p.Ala1685Val) rs1008288721
NM_001142864.4(PIEZO1):c.5200A>G (p.Ile1734Val)
NM_001142864.4(PIEZO1):c.5282G>C (p.Arg1761Pro)
NM_001142864.4(PIEZO1):c.5285G>A (p.Arg1762His)
NM_001142864.4(PIEZO1):c.5341G>A (p.Gly1781Ser) rs186774726
NM_001142864.4(PIEZO1):c.5353T>C (p.Tyr1785His)
NM_001142864.4(PIEZO1):c.5438C>T (p.Pro1813Leu)
NM_001142864.4(PIEZO1):c.5482G>A (p.Glu1828Lys)
NM_001142864.4(PIEZO1):c.5513C>A (p.Thr1838Asn)
NM_001142864.4(PIEZO1):c.5545G>A (p.Gly1849Arg)
NM_001142864.4(PIEZO1):c.5561C>A (p.Thr1854Asn)
NM_001142864.4(PIEZO1):c.5564C>T (p.Pro1855Leu)
NM_001142864.4(PIEZO1):c.5597C>T (p.Thr1866Met)
NM_001142864.4(PIEZO1):c.5639G>T (p.Gly1880Val)
NM_001142864.4(PIEZO1):c.5657C>T (p.Ala1886Val)
NM_001142864.4(PIEZO1):c.5700G>C (p.Glu1900Asp)
NM_001142864.4(PIEZO1):c.5701G>A (p.Glu1901Lys)
NM_001142864.4(PIEZO1):c.5704G>A (p.Glu1902Lys)
NM_001142864.4(PIEZO1):c.5720C>T (p.Thr1907Met)
NM_001142864.4(PIEZO1):c.5744G>A (p.Arg1915His)
NM_001142864.4(PIEZO1):c.5747C>G (p.Ser1916Cys)
NM_001142864.4(PIEZO1):c.5770G>A (p.Gly1924Arg)
NM_001142864.4(PIEZO1):c.5780T>A (p.Leu1927Gln)
NM_001142864.4(PIEZO1):c.5806C>A (p.Gln1936Lys)
NM_001142864.4(PIEZO1):c.5810G>A (p.Gly1937Asp)
NM_001142864.4(PIEZO1):c.5816A>G (p.Tyr1939Cys)
NM_001142864.4(PIEZO1):c.5867C>T (p.Ala1956Val)
NM_001142864.4(PIEZO1):c.5911G>A (p.Asp1971Asn)
NM_001142864.4(PIEZO1):c.5960C>T (p.Ala1987Val)
NM_001142864.4(PIEZO1):c.5997G>T (p.Gln1999His)
NM_001142864.4(PIEZO1):c.6079G>T (p.Val2027Leu)
NM_001142864.4(PIEZO1):c.6104T>G (p.Val2035Gly)
NM_001142864.4(PIEZO1):c.6214A>G (p.Ile2072Val)
NM_001142864.4(PIEZO1):c.6250G>A (p.Gly2084Ser)
NM_001142864.4(PIEZO1):c.6340T>C (p.Phe2114Leu)
NM_001142864.4(PIEZO1):c.6460G>A (p.Glu2154Lys)
NM_001142864.4(PIEZO1):c.6482A>G (p.Gln2161Arg)
NM_001142864.4(PIEZO1):c.6511G>A (p.Val2171Ile)
NM_001142864.4(PIEZO1):c.6556A>G (p.Ile2186Val)
NM_001142864.4(PIEZO1):c.6582G>A (p.Met2194Ile)
NM_001142864.4(PIEZO1):c.6634G>A (p.Val2212Ile)
NM_001142864.4(PIEZO1):c.6652G>A (p.Gly2218Ser)
NM_001142864.4(PIEZO1):c.6689C>T (p.Pro2230Leu)
NM_001142864.4(PIEZO1):c.6739T>C (p.Phe2247Leu)
NM_001142864.4(PIEZO1):c.6818G>A (p.Ser2273Asn)
NM_001142864.4(PIEZO1):c.6823G>A (p.Gly2275Arg)
NM_001142864.4(PIEZO1):c.6827C>T (p.Ala2276Val)
NM_001142864.4(PIEZO1):c.6829C>G (p.Leu2277Val)
NM_001142864.4(PIEZO1):c.6854G>A (p.Arg2285His)
NM_001142864.4(PIEZO1):c.7067T>A (p.Phe2356Tyr)
NM_001142864.4(PIEZO1):c.7081C>T (p.Arg2361Cys)
NM_001142864.4(PIEZO1):c.7141G>A (p.Asp2381Asn)
NM_001142864.4(PIEZO1):c.7219G>C (p.Glu2407Gln)
NM_001142864.4(PIEZO1):c.7231T>A (p.Cys2411Ser)
NM_001142864.4(PIEZO1):c.7235G>A (p.Arg2412Gln)
NM_001142864.4(PIEZO1):c.7363G>T (p.Val2455Leu)
NM_001142864.4(PIEZO1):c.7415C>T (p.Pro2472Leu)
NM_001142864.4(PIEZO1):c.7427G>A (p.Arg2476His)
NM_001142864.4(PIEZO1):c.7469C>T (p.Thr2490Ile)
NM_001142864.4(PIEZO1):c.7477CTGGAG[1] (p.2493LE[1]) rs587776992
NM_001142864.4(PIEZO1):c.7555G>A (p.Glu2519Lys)
NM_001142864.4(PIEZO1):c.7561G>C (p.Glu2521Gln)

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