ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_001142864.4(PIEZO1):c.3935C>T (p.Ala1312Val) rs34246477 0.00274
NM_001142864.4(PIEZO1):c.4363G>A (p.Ala1455Thr) rs191656121 0.00156
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.5291A>C (p.Glu1764Ala) rs530387460 0.00077
NM_001142864.4(PIEZO1):c.6661-12T>G rs540049109 0.00062
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.4274G>A (p.Ser1425Asn) rs772788410 0.00050
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.6154G>A (p.Val2052Ile) rs564395221 0.00024
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.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.7099G>A (p.Glu2367Lys) rs552562531 0.00012
NM_001142864.4(PIEZO1):c.5068C>T (p.Leu1690Phe) rs992621550 0.00011
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.7381G>A (p.Glu2461Lys) rs371391349 0.00007
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.5615G>A (p.Arg1872His) rs1004130638 0.00004
NM_001142864.4(PIEZO1):c.6375G>A (p.Val2125=) rs948359372 0.00004
NM_001142864.4(PIEZO1):c.352G>A (p.Ala118Thr) rs752004128 0.00003
NM_001142864.4(PIEZO1):c.5390G>A (p.Arg1797His) rs759786040 0.00003
NM_001142864.4(PIEZO1):c.6754-15G>A rs761514562 0.00003
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.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.6160G>C (p.Glu2054Gln) rs1334902592 0.00001
NM_001142864.4(PIEZO1):c.6421G>A (p.Asp2141Asn) rs781566440 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.120_125dup (p.Leu41_Pro42dup) rs1906266156
NM_001142864.4(PIEZO1):c.3433G>A (p.Val1145Met)
NM_001142864.4(PIEZO1):c.359G>A (p.Arg120Gln)
NM_001142864.4(PIEZO1):c.3625C>T (p.Arg1209Trp)
NM_001142864.4(PIEZO1):c.3783G>C (p.Lys1261Asn)
NM_001142864.4(PIEZO1):c.3796C>A (p.Pro1266Thr)
NM_001142864.4(PIEZO1):c.3983A>C (p.Tyr1328Ser)
NM_001142864.4(PIEZO1):c.4180G>A (p.Gly1394Ser)
NM_001142864.4(PIEZO1):c.4211G>C (p.Arg1404Pro) rs565593847
NM_001142864.4(PIEZO1):c.4556A>C (p.Gln1519Pro)
NM_001142864.4(PIEZO1):c.5054C>T (p.Ala1685Val) rs1008288721
NM_001142864.4(PIEZO1):c.5098A>G (p.Met1700Val)
NM_001142864.4(PIEZO1):c.5134G>C (p.Val1712Leu) rs760732001
NM_001142864.4(PIEZO1):c.5243A>C (p.Gln1748Pro) rs1597445087
NM_001142864.4(PIEZO1):c.5290G>C (p.Glu1764Gln) rs749976222
NM_001142864.4(PIEZO1):c.5389C>T (p.Arg1797Cys)
NM_001142864.4(PIEZO1):c.5464G>C (p.Glu1822Gln) rs762151744
NM_001142864.4(PIEZO1):c.5482G>A (p.Glu1828Lys)
NM_001142864.4(PIEZO1):c.5507C>A (p.Ala1836Asp) rs2142764441
NM_001142864.4(PIEZO1):c.5833TTC[1] (p.Phe1946del) rs1912355263
NM_001142864.4(PIEZO1):c.5846T>G (p.Ile1949Ser)
NM_001142864.4(PIEZO1):c.6007G>A (p.Ala2003Thr) rs1912332137
NM_001142864.4(PIEZO1):c.6107C>T (p.Ala2036Val)
NM_001142864.4(PIEZO1):c.6250G>A (p.Gly2084Ser)
NM_001142864.4(PIEZO1):c.6342C>G (p.Phe2114Leu)
NM_001142864.4(PIEZO1):c.6353T>A (p.Leu2118Gln)
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.6926+5G>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.7431C>G (p.Ile2477Met) rs772748505
NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup) rs755226463
NM_001142864.4(PIEZO1):c.7522C>A (p.Arg2508Ser)

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