ClinVar Miner

List of variants in gene PIEZO2 reported by Breakthrough Genomics, Breakthrough Genomics

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Gene type:
ClinVar version:
Total variants: 142
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HGVS dbSNP gnomAD frequency
NM_001378183.1(PIEZO2):c.2319-115T>G rs12604151 0.85238
NM_001378183.1(PIEZO2):c.2305C>T (p.Leu769=) rs6505592 0.84859
NM_001378183.1(PIEZO2):c.2169+63C>T rs2870106 0.84705
NM_001378183.1(PIEZO2):c.4708+18C>T rs5024299 0.83716
NM_001378183.1(PIEZO2):c.3036A>G (p.Thr1012=) rs7227167 0.83322
NM_001378183.1(PIEZO2):c.3867C>T (p.Asn1289=) rs7407105 0.81713
NM_001378183.1(PIEZO2):c.3923+99T>C rs7242408 0.81592
NM_001378183.1(PIEZO2):c.3451-28T>C rs2865119 0.81541
NM_001378183.1(PIEZO2):c.3451-54C>T rs2865118 0.81531
NM_001378183.1(PIEZO2):c.3249+223A>G rs4519388 0.78245
NM_001378183.1(PIEZO2):c.3081C>T (p.Leu1027=) rs7241380 0.78175
NM_001378183.1(PIEZO2):c.7952+33C>T rs487037 0.71189
NM_001378183.1(PIEZO2):c.7952+92G>A rs1944383 0.70421
NM_001378183.1(PIEZO2):c.7952+54A>T rs688222 0.69932
NM_001378183.1(PIEZO2):c.7952+64G>A rs688237 0.69729
NM_001378183.1(PIEZO2):c.160+116A>G rs7236754 0.68872
NM_001378183.1(PIEZO2):c.4290T>A (p.Leu1430=) rs8096037 0.63926
NM_001378183.1(PIEZO2):c.4514+32C>T rs8093389 0.63523
NM_001378183.1(PIEZO2):c.4514+154G>A rs7233917 0.63480
NM_001378183.1(PIEZO2):c.4708+259G>A rs35786221 0.61208
NM_001378183.1(PIEZO2):c.4815+214C>G rs11080452 0.51466
NM_001378183.1(PIEZO2):c.4815+87A>C rs12455888 0.51351
NM_001378183.1(PIEZO2):c.2319-146A>G rs28605566 0.46102
NM_001378183.1(PIEZO2):c.6976-51T>C rs868526 0.36451
NM_001378183.1(PIEZO2):c.7190+29A>G rs11661737 0.36222
NM_001378183.1(PIEZO2):c.6976-47G>C rs868525 0.36074
NM_001378183.1(PIEZO2):c.7349+7C>T rs3748422 0.35979
NM_001378183.1(PIEZO2):c.4135G>A (p.Val1379Ile) rs7234309 0.30463
NM_001378183.1(PIEZO2):c.3249+80C>T rs8095476 0.30416
NM_001378183.1(PIEZO2):c.7035G>A (p.Pro2345=) rs2277860 0.29299
NM_001378183.1(PIEZO2):c.1379-47T>C rs56112279 0.27943
NM_001378183.1(PIEZO2):c.1528-41T>C rs6505594 0.27833
NM_001378183.1(PIEZO2):c.7215C>T (p.Ala2405=) rs3748421 0.27315
NM_001378183.1(PIEZO2):c.5589C>T (p.Ser1863=) rs7227022 0.26688
NM_001378183.1(PIEZO2):c.1527+64C>T rs36081769 0.26015
NM_001378183.1(PIEZO2):c.1527+69C>T rs35610200 0.25692
NM_001378183.1(PIEZO2):c.7349+31A>C rs3748423 0.25561
NM_001378183.1(PIEZO2):c.6441+125C>G rs62095567 0.22769
NM_001378183.1(PIEZO2):c.1527+10A>C rs7407224 0.22718
NM_001378183.1(PIEZO2):c.6441+89G>A rs62095568 0.22687
NM_001378183.1(PIEZO2):c.6258+170A>T rs4797464 0.21527
NM_001378183.1(PIEZO2):c.4708+222G>T rs60155433 0.20980
NM_001378183.1(PIEZO2):c.3758-152A>G rs79054145 0.20887
NM_001378183.1(PIEZO2):c.2947-36G>A rs7507093 0.20716
NM_001378183.1(PIEZO2):c.5006G>A (p.Arg1669Gln) rs2865121 0.20369
NM_001378183.1(PIEZO2):c.3923+79C>T rs7407954 0.20334
NM_001378183.1(PIEZO2):c.6031G>C (p.Glu2011Gln) rs4796901 0.20035
NM_001378183.1(PIEZO2):c.5423+83A>T rs9962475 0.19399
NM_001378183.1(PIEZO2):c.1528-191A>G rs11080458 0.16907
NM_001378183.1(PIEZO2):c.1528-128A>G rs7237911 0.16887
NM_001378183.1(PIEZO2):c.3518G>T (p.Cys1173Phe) rs35033671 0.16160
NM_001378183.1(PIEZO2):c.5090-37T>C rs28712767 0.15086
NM_001378183.1(PIEZO2):c.6488C>A (p.Ala2163Asp) rs113682091 0.11487
NM_001378183.1(PIEZO2):c.6695-35C>T rs2277857 0.11424
NM_001378183.1(PIEZO2):c.6827+89G>A rs875956 0.11423
NM_001378183.1(PIEZO2):c.6828-92A>G rs73943314 0.10745
NM_001378183.1(PIEZO2):c.7726G>A (p.Val2576Ile) rs3748428 0.10664
NM_001378183.1(PIEZO2):c.6828-100A>G rs9954308 0.10451
NM_001378183.1(PIEZO2):c.5090-216C>A rs11662454 0.08931
NM_001378183.1(PIEZO2):c.6827+38G>T rs875957 0.08145
NM_001378183.1(PIEZO2):c.286+53G>A rs77367208 0.07441
NM_001378183.1(PIEZO2):c.5029+15G>C rs78691268 0.07088
NM_001378183.1(PIEZO2):c.1528-78T>C rs78376550 0.05736
NM_001378183.1(PIEZO2):c.1023G>A (p.Leu341=) rs61750910 0.05666
NM_001378183.1(PIEZO2):c.1201-19C>G rs7241307 0.05645
NM_001378183.1(PIEZO2):c.2226T>C (p.Ile742=) rs76488076 0.05629
NM_001378183.1(PIEZO2):c.6441+143T>A rs201562429 0.04970
NM_001378183.1(PIEZO2):c.704-26T>G rs78977374 0.04515
NM_001378183.1(PIEZO2):c.3124-76G>A rs9951309 0.04072
NM_001378183.1(PIEZO2):c.1758+17C>T rs55646160 0.03921
NM_001378183.1(PIEZO2):c.5423+27A>C rs77481110 0.03920
NM_001378183.1(PIEZO2):c.6891C>T (p.Ser2297=) rs16975188 0.03894
NM_001378183.1(PIEZO2):c.5423+198A>G rs77805105 0.03887
NM_001378183.1(PIEZO2):c.3123+110C>T rs73389085 0.03780
NM_001378183.1(PIEZO2):c.717G>A (p.Pro239=) rs8085615 0.03052
NM_001378183.1(PIEZO2):c.2785+86T>C rs79147809 0.03046
NM_001378183.1(PIEZO2):c.4203C>G (p.His1401Gln) rs79261438 0.02303
NM_001378183.1(PIEZO2):c.7779+103G>A rs62093957 0.02164
NM_001378183.1(PIEZO2):c.918-119A>G rs72988003 0.02129
NM_001378183.1(PIEZO2):c.6600C>T (p.Phe2200=) rs73945841 0.02073
NM_001378183.1(PIEZO2):c.4425-44A>G rs150286626 0.01833
NM_001378183.1(PIEZO2):c.8161+65T>C rs62093933 0.01801
NM_001378183.1(PIEZO2):c.3124-35C>G rs111396956 0.01705
NM_001378183.1(PIEZO2):c.1698T>C (p.Pro566=) rs11875564 0.01671
NM_001378183.1(PIEZO2):c.6012C>T (p.Asp2004=) rs16975235 0.01635
NM_001378183.1(PIEZO2):c.4915-169T>C rs78049774 0.01528
NM_001378183.1(PIEZO2):c.6000-88T>C rs139910787 0.01504
NM_001378183.1(PIEZO2):c.5715C>T (p.Tyr1905=) rs73399306 0.01434
NM_001378183.1(PIEZO2):c.5999+183T>G rs72972004 0.01378
NM_001378183.1(PIEZO2):c.8181T>C (p.Ile2727=) rs142605748 0.01373
NM_001378183.1(PIEZO2):c.3941C>T (p.Ser1314Phe) rs9959296 0.01356
NM_001378183.1(PIEZO2):c.164A>C (p.His55Pro) rs145948919 0.01330
NM_001378183.1(PIEZO2):c.6831G>A (p.Thr2277=) rs117799245 0.01255
NM_001378183.1(PIEZO2):c.8250A>T (p.Gly2750=) rs34134242 0.01209
NM_001378183.1(PIEZO2):c.330-56A>T rs74255529 0.01150
NM_001378183.1(PIEZO2):c.2112C>T (p.Ile704=) rs58332766 0.00959
NM_001378183.1(PIEZO2):c.1200+152G>A rs117012943 0.00952
NM_001378183.1(PIEZO2):c.1378+107A>G rs75043767 0.00915
NM_001378183.1(PIEZO2):c.1226A>G (p.Tyr409Cys) rs61978645 0.00907
NM_001378183.1(PIEZO2):c.1080+44T>C rs75989079 0.00765
NM_001378183.1(PIEZO2):c.6530G>C (p.Arg2177Thr) rs79992793 0.00560
NM_001378183.1(PIEZO2):c.2318+18G>C rs73943110 0.00457
NM_001378183.1(PIEZO2):c.3757+13A>G rs73389079 0.00391
NM_001378183.1(PIEZO2):c.5819C>A (p.Ala1940Asp) rs116667912 0.00372
NM_001378183.1(PIEZO2):c.160+85T>A rs10221391 0.00347
NM_001378183.1(PIEZO2):c.5627G>C (p.Gly1876Ala) rs62622495 0.00340
NM_001378183.1(PIEZO2):c.7326C>T (p.Tyr2442=) rs72970080 0.00237
NM_001378183.1(PIEZO2):c.1882+40C>T rs117025760 0.00210
NM_001378183.1(PIEZO2):c.8340C>T (p.Gly2780=) rs146400447 0.00192
NM_001378183.1(PIEZO2):c.5355C>T (p.Pro1785=) rs191626967 0.00178
NM_001378183.1(PIEZO2):c.64+19C>T rs113483430 0.00172
NM_001378183.1(PIEZO2):c.4239C>T (p.Ala1413=) rs144035480 0.00171
NM_001378183.1(PIEZO2):c.6013G>A (p.Asp2005Asn) rs199842060 0.00170
NM_001378183.1(PIEZO2):c.1249G>C (p.Val417Leu) rs369473273 0.00136
NM_001378183.1(PIEZO2):c.3513C>T (p.His1171=) rs189783837 0.00121
NM_001378183.1(PIEZO2):c.2595G>A (p.Pro865=) rs372274945 0.00108
NM_001378183.1(PIEZO2):c.241T>C (p.Leu81=) rs373387409 0.00090
NM_001378183.1(PIEZO2):c.2964T>C (p.Tyr988=) rs200998919 0.00045
NM_001378183.1(PIEZO2):c.5080G>A (p.Asp1694Asn) rs114649884 0.00044
NM_001378183.1(PIEZO2):c.7350-3C>A rs147568081 0.00037
NM_001378183.1(PIEZO2):c.4250A>G (p.Lys1417Arg) rs749257673 0.00031
NM_001378183.1(PIEZO2):c.1006G>A (p.Ala336Thr) rs368601054 0.00021
NM_001378183.1(PIEZO2):c.474G>A (p.Glu158=) rs369019214 0.00009
NM_001378183.1(PIEZO2):c.5805C>T (p.Asp1935=) rs766667512 0.00007
NM_001378183.1(PIEZO2):c.8300A>G (p.Asn2767Ser) rs376761944 0.00004
NM_001378183.1(PIEZO2):c.6324G>A (p.Val2108=) rs1598375836 0.00001
NM_001378183.1(PIEZO2):c.1379-20T>A rs185322783
NM_001378183.1(PIEZO2):c.1528-51G>T rs7236574
NM_001378183.1(PIEZO2):c.1528-57G>C rs7236576
NM_001378183.1(PIEZO2):c.2567+146C>A rs76165949
NM_001378183.1(PIEZO2):c.2785+72G>C rs77903703
NM_001378183.1(PIEZO2):c.2947-122A>G rs2865131
NM_001378183.1(PIEZO2):c.2947-125C>T rs79489786
NM_001378183.1(PIEZO2):c.3451-12A>C rs74713399
NM_001378183.1(PIEZO2):c.3758-252G>A rs7228152
NM_001378183.1(PIEZO2):c.5598G>A (p.Thr1866=) rs78023192
NM_001378183.1(PIEZO2):c.5598G>T (p.Thr1866=) rs78023192
NM_001378183.1(PIEZO2):c.5916C>T (p.Asp1972=) rs529388684
NM_001378183.1(PIEZO2):c.6202T>C (p.Leu2068=) rs112982077
NM_001378183.1(PIEZO2):c.6441+177A>C rs62095566
NM_001378183.1(PIEZO2):c.6441+189T>G rs4796900
NM_001378183.1(PIEZO2):c.7779+211T>G rs3748429

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