ClinVar Miner

List of variants in gene PIEZO2 studied for not specified

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Gene type:
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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_001378183.1(PIEZO2):c.2305C>T (p.Leu769=) rs6505592 0.84859
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.3081C>T (p.Leu1027=) rs7241380 0.78175
NM_001378183.1(PIEZO2):c.4290T>A (p.Leu1430=) rs8096037 0.63926
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.7035G>A (p.Pro2345=) rs2277860 0.29299
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+10A>C rs7407224 0.22718
NM_001378183.1(PIEZO2):c.5006G>A (p.Arg1669Gln) rs2865121 0.20369
NM_001378183.1(PIEZO2):c.6031G>C (p.Glu2011Gln) rs4796901 0.20035
NM_001378183.1(PIEZO2):c.3518G>T (p.Cys1173Phe) rs35033671 0.16160
NM_001378183.1(PIEZO2):c.6488C>A (p.Ala2163Asp) rs113682091 0.11487
NM_001378183.1(PIEZO2):c.7726G>A (p.Val2576Ile) rs3748428 0.10664
NM_001378183.1(PIEZO2):c.5029+15G>C rs78691268 0.07088
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.1758+17C>T rs55646160 0.03921
NM_001378183.1(PIEZO2):c.6891C>T (p.Ser2297=) rs16975188 0.03894
NM_001378183.1(PIEZO2):c.7349+8G>A rs57838670 0.03315
NM_001378183.1(PIEZO2):c.717G>A (p.Pro239=) rs8085615 0.03052
NM_001378183.1(PIEZO2):c.4203C>G (p.His1401Gln) rs79261438 0.02303
NM_001378183.1(PIEZO2):c.6600C>T (p.Phe2200=) rs73945841 0.02073
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.164A>C (p.His55Pro) rs145948919 0.01330
NM_001378183.1(PIEZO2):c.8250A>T (p.Gly2750=) rs34134242 0.01209
NM_001378183.1(PIEZO2):c.3730G>A (p.Val1244Met) rs73946020 0.00561
NM_001378183.1(PIEZO2):c.6530G>C (p.Arg2177Thr) rs79992793 0.00560
NM_001378183.1(PIEZO2):c.5819C>A (p.Ala1940Asp) rs116667912 0.00372
NM_001378183.1(PIEZO2):c.1239+13T>A rs142251928 0.00223
NM_001378183.1(PIEZO2):c.5030-15G>T rs527248198 0.00098
NM_001378183.1(PIEZO2):c.6153C>T (p.Ala2051=) rs375812718 0.00072
NM_001378183.1(PIEZO2):c.6475G>C (p.Glu2159Gln) rs200276831 0.00072
NM_001378183.1(PIEZO2):c.5080G>A (p.Asp1694Asn) rs114649884 0.00044
NM_001378183.1(PIEZO2):c.5877C>T (p.Asp1959=) rs539810112 0.00022
NM_001378183.1(PIEZO2):c.3775C>T (p.Leu1259=) rs371843375 0.00021
NM_001378183.1(PIEZO2):c.5897G>A (p.Arg1966His) rs373973800 0.00019
NM_001378183.1(PIEZO2):c.3123+9C>T rs184076139 0.00013
NM_001378183.1(PIEZO2):c.4799G>A (p.Arg1600Gln) rs374051556 0.00010
NM_001378183.1(PIEZO2):c.6487G>A (p.Ala2163Thr) rs864309619 0.00002
NM_001378183.1(PIEZO2):c.3479T>C (p.Ile1160Thr) rs1288890705 0.00001
NM_001378183.1(PIEZO2):c.3829C>A (p.Arg1277=) rs762874609 0.00001
NM_001378183.1(PIEZO2):c.5347G>C (p.Glu1783Gln) rs779439901 0.00001
NM_001378183.1(PIEZO2):c.6775A>G (p.Met2259Val) rs2510277364 0.00001
GRCh37/hg19 18p11.21(chr18:11118206-11176380)
NC_000018.9:g.(?_10670243)_(10750186_10752633)dup
NM_001378183.1(PIEZO2):c.127C>G (p.Leu43Val)
NM_001378183.1(PIEZO2):c.1328A>T (p.Asp443Val)
NM_001378183.1(PIEZO2):c.1373C>G (p.Ser458Cys) rs778003564
NM_001378183.1(PIEZO2):c.1379-20T>A rs185322783
NM_001378183.1(PIEZO2):c.16G>T (p.Val6Leu) rs1568417565
NM_001378183.1(PIEZO2):c.2007G>T (p.Gln669His)
NM_001378183.1(PIEZO2):c.2254T>G (p.Tyr752Asp)
NM_001378183.1(PIEZO2):c.2743G>A (p.Gly915Arg) rs750411760
NM_001378183.1(PIEZO2):c.3249G>C (p.Arg1083Ser) rs2510661330
NM_001378183.1(PIEZO2):c.3339C>G (p.Ala1113=) rs1012685837
NM_001378183.1(PIEZO2):c.5090-20G>T rs765922819
NM_001378183.1(PIEZO2):c.5203A>G (p.Ile1735Val) rs2143884538
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.5781G>A (p.Glu1927=)
NM_001378183.1(PIEZO2):c.5850C>A (p.Phe1950Leu)
NM_001378183.1(PIEZO2):c.6202T>A (p.Leu2068Met) rs112982077
NM_001378183.1(PIEZO2):c.6202T>C (p.Leu2068=) rs112982077
NM_001378183.1(PIEZO2):c.704-16C>T
NM_001378183.1(PIEZO2):c.7779C>G (p.Thr2593=) rs746879076
NM_001378183.1(PIEZO2):c.7953-9del rs5823112
NM_001378183.1(PIEZO2):c.8216A>T (p.Tyr2739Phe) rs1305868876
NM_001378183.1(PIEZO2):c.8271C>T (p.Asn2757=)

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