ClinVar Miner

List of variants in gene PIEZO1 reported by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 178
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HGVS dbSNP gnomAD frequency
NM_001142864.4(PIEZO1):c.4775+88A>C rs4238687 0.90904
NM_001142864.4(PIEZO1):c.248T>C (p.Ile83Thr) rs6500495 0.89953
NM_001142864.4(PIEZO1):c.3699+33T>C rs4516218 0.89952
NM_001142864.4(PIEZO1):c.6660+57T>C rs8044367 0.89863
NM_001142864.4(PIEZO1):c.6570A>G (p.Pro2190=) rs6500491 0.89832
NM_001142864.4(PIEZO1):c.6472-119T>C rs4782432 0.88718
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.5668+186G>A rs8059794 0.86957
NM_001142864.4(PIEZO1):c.161-32G>A rs7201439 0.85011
NM_001142864.4(PIEZO1):c.327-87A>G rs11076707 0.71534
NM_001142864.4(PIEZO1):c.6642G>C (p.Leu2214=) rs8057031 0.63867
NM_001142864.4(PIEZO1):c.3301+55G>A rs2242171 0.62227
NM_001142864.4(PIEZO1):c.161-275T>A rs11640422 0.59028
NM_001142864.4(PIEZO1):c.161-193G>C rs11648608 0.58726
NM_001142864.4(PIEZO1):c.3301+107G>A rs2242170 0.54941
NM_001142864.4(PIEZO1):c.6472-284T>C rs7186082 0.50684
NM_001142864.4(PIEZO1):c.65-154A>G rs8062328 0.45023
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.3301+122G>A rs2242169 0.24293
NM_001142864.4(PIEZO1):c.4775+31G>T rs3816618 0.22643
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.4162+117T>C rs8050515 0.21607
NM_001142864.4(PIEZO1):c.3796+22G>A rs2247261 0.20320
NM_001142864.4(PIEZO1):c.327-117A>G rs11076708 0.19121
NM_001142864.4(PIEZO1):c.3301+142G>A rs2879904 0.18142
NM_001142864.4(PIEZO1):c.455C>T (p.Pro152Leu) rs7404939 0.16061
NM_001142864.4(PIEZO1):c.4234+215A>G rs73264770 0.15321
NM_001142864.4(PIEZO1):c.3301+154G>A rs2340980 0.14593
NM_001142864.4(PIEZO1):c.7362C>T (p.Phe2454=) rs35544968 0.12625
NM_001142864.4(PIEZO1):c.3197-244C>T rs72811495 0.11349
NM_001142864.4(PIEZO1):c.4162+127A>G rs72811489 0.11250
NM_001142864.4(PIEZO1):c.3301+93A>G rs113907912 0.10818
NM_001142864.4(PIEZO1):c.7500C>T (p.Tyr2500=) rs1061228 0.10667
NM_001142864.4(PIEZO1):c.-187T>A rs144435894 0.10613
NM_001142864.4(PIEZO1):c.161-42C>T rs11644443 0.10505
NM_001142864.4(PIEZO1):c.*163G>A rs1061238 0.10401
NM_001142864.4(PIEZO1):c.4956-70C>T rs76661599 0.10280
NM_001142864.4(PIEZO1):c.326+200A>G rs111977839 0.09622
NM_001142864.4(PIEZO1):c.4775+53C>T rs2242167 0.08708
NM_001142864.4(PIEZO1):c.4162+121C>T rs78217493 0.08579
NM_001142864.4(PIEZO1):c.3797-32G>C rs79092320 0.07948
NM_001142864.4(PIEZO1):c.4234+156T>C rs73264772 0.06660
NM_001142864.4(PIEZO1):c.327-137G>A rs11076709 0.05412
NM_001142864.4(PIEZO1):c.161-203G>A rs117437258 0.05213
NM_001142864.4(PIEZO1):c.327-207A>G rs113351350 0.04686
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.3302-32T>C rs61649074 0.03873
NM_001142864.4(PIEZO1):c.6660+17C>T rs79934624 0.03873
NM_001142864.4(PIEZO1):c.3302-21G>A rs11863125 0.03791
NM_001142864.4(PIEZO1):c.326+150A>G rs12924342 0.03742
NM_001142864.4(PIEZO1):c.3456-11C>T rs77276858 0.03009
NM_001142864.4(PIEZO1):c.4668+46C>T rs117952640 0.02768
NM_001142864.4(PIEZO1):c.6390G>A (p.Thr2130=) rs34679131 0.02567
NM_001142864.4(PIEZO1):c.6660+58G>A rs77442987 0.02561
NM_001142864.4(PIEZO1):c.6472-290G>A rs115801275 0.02551
NM_001142864.4(PIEZO1):c.327-147A>G rs568091807 0.02540
NM_001142864.4(PIEZO1):c.4955+65A>G rs116828364 0.02325
NM_001142864.4(PIEZO1):c.160+265dup rs199684202 0.02174
NM_001142864.4(PIEZO1):c.465+24G>A rs4040061 0.02146
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.3301+171T>G rs74735245 0.01636
NM_001142864.4(PIEZO1):c.4162+61C>T rs114660478 0.01611
NM_001142864.4(PIEZO1):c.4163-37T>G rs116204605 0.01611
NM_001142864.4(PIEZO1):c.3968+163C>T rs74597321 0.01404
NM_001142864.4(PIEZO1):c.3969-159A>C rs116971855 0.01383
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.65-39C>T rs372308503 0.00954
NM_001142864.4(PIEZO1):c.7152C>T (p.Gly2384=) rs78114078 0.00953
NM_001142864.4(PIEZO1):c.4235-233G>A rs114811356 0.00903
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.7240G>A (p.Asp2414Asn) rs58548913 0.00473
NM_001142864.4(PIEZO1):c.-165G>A rs1026211245 0.00380
NM_001142864.4(PIEZO1):c.3302-67A>G rs8056875 0.00358
NM_001142864.4(PIEZO1):c.3928G>A (p.Val1310Ile) rs34606201 0.00322
NM_001142864.4(PIEZO1):c.3797-33_3797-27dup rs199647212 0.00319
NM_001142864.4(PIEZO1):c.3968+101G>C rs149761884 0.00319
NM_001142864.4(PIEZO1):c.5838C>T (p.Phe1946=) rs116855700 0.00288
NM_001142864.4(PIEZO1):c.7332C>T (p.Tyr2444=) rs140778010 0.00196
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.3301+17A>C rs756371593 0.00133
NM_001142864.4(PIEZO1):c.3699+35G>T rs376861499 0.00124
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.3602C>T (p.Thr1201Met) rs372935580 0.00080
NM_001142864.4(PIEZO1):c.5773C>T (p.Arg1925Trp) rs201442593 0.00069
NM_001142864.4(PIEZO1):c.6205G>A (p.Val2069Met) rs199752762 0.00059
NM_001142864.4(PIEZO1):c.6905G>A (p.Arg2302His) rs200555745 0.00058
NM_001142864.4(PIEZO1):c.4885G>A (p.Gly1629Arg) rs533910472 0.00057
NM_001142864.4(PIEZO1):c.6836G>A (p.Arg2279His) rs577357377 0.00057
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.4539C>G (p.Phe1513Leu) rs377025920 0.00040
NM_001142864.4(PIEZO1):c.4252T>C (p.Tyr1418His) rs147153006 0.00036
NM_001142864.4(PIEZO1):c.6473A>G (p.Lys2158Arg) rs200506892 0.00036
NM_001142864.4(PIEZO1):c.5647C>T (p.Arg1883Trp) rs200031013 0.00029
NM_001142864.4(PIEZO1):c.3340C>G (p.Gln1114Glu) rs373706590 0.00014
NM_001142864.4(PIEZO1):c.5641C>A (p.Pro1881Thr) rs539394199 0.00013
NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu) rs750027720 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.3303C>T (p.Ser1101=) rs367579980 0.00004
NM_001142864.4(PIEZO1):c.4853G>A (p.Arg1618His) rs752059066 0.00004
NM_001142864.4(PIEZO1):c.7414C>T (p.Pro2472Ser) rs752052449 0.00004
NM_001142864.4(PIEZO1):c.3665A>G (p.Asn1222Ser) rs1064797060 0.00003
NM_001142864.4(PIEZO1):c.6692C>T (p.Ser2231Phe) rs575482829 0.00002
NM_001142864.4(PIEZO1):c.3213G>C (p.Trp1071Cys) rs1418147855 0.00001
NM_001142864.4(PIEZO1):c.3699G>A (p.Ser1233=) rs756007857 0.00001
NM_001142864.4(PIEZO1):c.4601G>A (p.Arg1534Gln) rs920528969 0.00001
NM_001142864.4(PIEZO1):c.5060C>T (p.Ser1687Leu) rs1209923928 0.00001
NM_001142864.4(PIEZO1):c.6079G>A (p.Val2027Met) rs1221506488 0.00001
NM_001142864.4(PIEZO1):c.6733C>T (p.Arg2245Trp) rs768394027 0.00001
NM_001142864.4(PIEZO1):c.7102G>A (p.Ala2368Thr) rs753588420 0.00001
GRCh37/hg19 16q24.3(chr16:88825321-88860473)x3
NC_000016.10:g.88785260T>G rs2926772
NM_001142864.4(PIEZO1):c.160+130dup rs112962992
NM_001142864.4(PIEZO1):c.160+144del rs112962992
NM_001142864.4(PIEZO1):c.160+176G>C rs139681582
NM_001142864.4(PIEZO1):c.161-211G>C rs55905441
NM_001142864.4(PIEZO1):c.161-88G>T rs11648555
NM_001142864.4(PIEZO1):c.3197-136C>G rs77726535
NM_001142864.4(PIEZO1):c.3197-334C>T rs8053350
NM_001142864.4(PIEZO1):c.3301+141CGCA[2] rs200015293
NM_001142864.4(PIEZO1):c.3301+152A>G rs8057198
NM_001142864.4(PIEZO1):c.3301+179A>G rs2242168
NM_001142864.4(PIEZO1):c.3359G>A (p.Arg1120His)
NM_001142864.4(PIEZO1):c.3619G>C (p.Asp1207His) rs1481409309
NM_001142864.4(PIEZO1):c.3699+20G>C rs4424896
NM_001142864.4(PIEZO1):c.3700-35GCCCCGCTG[3] rs143054492
NM_001142864.4(PIEZO1):c.3940C>T (p.Leu1314Phe) rs1064796913
NM_001142864.4(PIEZO1):c.3969-5T>C rs4782429
NM_001142864.4(PIEZO1):c.4234+188_4234+189del rs140072305
NM_001142864.4(PIEZO1):c.4234+291G>C rs73264709
NM_001142864.4(PIEZO1):c.4297C>A (p.Pro1433Thr)
NM_001142864.4(PIEZO1):c.4335+132C>A rs8056374
NM_001142864.4(PIEZO1):c.4379GGC[1] (p.Arg1461_Arg1462del) rs759270131
NM_001142864.4(PIEZO1):c.4388AGCAGG[2] (p.1465EQ[1]) rs11281795
NM_001142864.4(PIEZO1):c.4388AGCAGG[4] (p.1465EQ[3]) rs11281795
NM_001142864.4(PIEZO1):c.4499G>T (p.Arg1500Leu)
NM_001142864.4(PIEZO1):c.4640G>A (p.Arg1547His)
NM_001142864.4(PIEZO1):c.4668+67C>T rs34745095
NM_001142864.4(PIEZO1):c.4775+57T>C rs4238686
NM_001142864.4(PIEZO1):c.4784G>A (p.Gly1595Asp)
NM_001142864.4(PIEZO1):c.4956-61A>G rs78759106
NM_001142864.4(PIEZO1):c.4957C>T (p.Arg1653Cys)
NM_001142864.4(PIEZO1):c.5101G>A (p.Val1701Ile)
NM_001142864.4(PIEZO1):c.5121G>C (p.Ser1707=) rs34346312
NM_001142864.4(PIEZO1):c.5162C>T (p.Ser1721Leu)
NM_001142864.4(PIEZO1):c.5289C>G (p.Tyr1763Ter) rs72811487
NM_001142864.4(PIEZO1):c.5289C>T (p.Tyr1763=) rs72811487
NM_001142864.4(PIEZO1):c.5341G>A (p.Gly1781Ser) rs186774726
NM_001142864.4(PIEZO1):c.5513C>T (p.Thr1838Ile) rs745612488
NM_001142864.4(PIEZO1):c.5564C>T (p.Pro1855Leu)
NM_001142864.4(PIEZO1):c.5590C>T (p.Arg1864Cys)
NM_001142864.4(PIEZO1):c.5629AAG[1] (p.Lys1878del) rs3217718
NM_001142864.4(PIEZO1):c.5802-27G>A rs4401037
NM_001142864.4(PIEZO1):c.5891T>A (p.Met1964Lys) rs1057524844
NM_001142864.4(PIEZO1):c.6059C>T (p.Ala2020Val) rs587777764
NM_001142864.4(PIEZO1):c.64+269G>A rs968749
NM_001142864.4(PIEZO1):c.6886A>C (p.Thr2296Pro)
NM_001142864.4(PIEZO1):c.6969G>C (p.Lys2323Asn) rs951572334
NM_001142864.4(PIEZO1):c.7234C>G (p.Arg2412Gly) rs577922766
NM_001142864.4(PIEZO1):c.7292G>T (p.Ser2431Ile)
NM_001142864.4(PIEZO1):c.7316+21del rs3214887
NM_001142864.4(PIEZO1):c.7317-5del
NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His) rs587776988
NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup) rs755226463
NM_001142864.4(PIEZO1):c.7477CTGGAG[3] (p.2493LE[3]) rs587776992
NM_001142864.4(PIEZO1):c.7493_7497dup (p.Tyr2500fs) rs1555551738

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