ClinVar Miner

List of variants in gene PIEZO2 reported as uncertain significance by GeneDx

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Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_001378183.1(PIEZO2):c.4958G>A (p.Arg1653Gln) rs190938950 0.00280
NM_001378183.1(PIEZO2):c.152C>T (p.Thr51Met) rs371432372 0.00044
NM_001378183.1(PIEZO2):c.3507G>A (p.Met1169Ile) rs930564863 0.00037
NM_001378183.1(PIEZO2):c.8159C>A (p.Ser2720Tyr) rs142103035 0.00037
NM_001378183.1(PIEZO2):c.8456G>A (p.Arg2819Gln) rs189453524 0.00035
NM_001378183.1(PIEZO2):c.4250A>G (p.Lys1417Arg) rs749257673 0.00031
NM_001378183.1(PIEZO2):c.3311A>G (p.Tyr1104Cys) rs192225494 0.00024
NM_001378183.1(PIEZO2):c.7165T>G (p.Phe2389Val) rs144506740 0.00024
NM_001378183.1(PIEZO2):c.1240-5G>A rs373971761 0.00019
NM_001378183.1(PIEZO2):c.5897G>A (p.Arg1966His) rs373973800 0.00019
NM_001378183.1(PIEZO2):c.947C>A (p.Thr316Lys) rs374993280 0.00019
NM_001378183.1(PIEZO2):c.3728T>C (p.Ile1243Thr) rs376185795 0.00017
NM_001378183.1(PIEZO2):c.1351C>T (p.Arg451Trp) rs757512135 0.00011
NM_001378183.1(PIEZO2):c.3299G>A (p.Arg1100His) rs371576361 0.00011
NM_001378183.1(PIEZO2):c.5109A>G (p.Ile1703Met) rs376703258 0.00008
NM_001378183.1(PIEZO2):c.2255A>G (p.Tyr752Cys) rs1015803761 0.00005
NM_001378183.1(PIEZO2):c.3217C>T (p.Arg1073Trp) rs942385292 0.00005
NM_001378183.1(PIEZO2):c.3500A>G (p.Tyr1167Cys) rs747108006 0.00004
NM_001378183.1(PIEZO2):c.4487A>G (p.Lys1496Arg) rs375685494 0.00004
NM_001378183.1(PIEZO2):c.5095A>G (p.Ile1699Val) rs760036064 0.00004
NM_001378183.1(PIEZO2):c.6400A>C (p.Ile2134Leu) rs575579489 0.00004
NM_001378183.1(PIEZO2):c.8581A>G (p.Arg2861Gly) rs150256646 0.00004
NM_001378183.1(PIEZO2):c.86G>T (p.Gly29Val) rs772178114 0.00004
NM_001378183.1(PIEZO2):c.239C>T (p.Thr80Met) rs370661809 0.00003
NM_001378183.1(PIEZO2):c.3139A>G (p.Thr1047Ala) rs781620744 0.00003
NM_001378183.1(PIEZO2):c.3400A>G (p.Asn1134Asp) rs1032953400 0.00003
NM_001378183.1(PIEZO2):c.4114G>A (p.Asp1372Asn) rs534984825 0.00003
NM_001378183.1(PIEZO2):c.6879C>G (p.His2293Gln) rs549548007 0.00003
NM_001378183.1(PIEZO2):c.3119C>T (p.Ser1040Phe) rs976495862 0.00002
NM_001378183.1(PIEZO2):c.8491C>T (p.Arg2831Ter) rs753034565 0.00002
NM_001378183.1(PIEZO2):c.2077G>A (p.Gly693Ser) rs1297078519 0.00001
NM_001378183.1(PIEZO2):c.2161C>G (p.Leu721Val) rs1481129284 0.00001
NM_001378183.1(PIEZO2):c.2483C>G (p.Thr828Ser) rs775818446 0.00001
NM_001378183.1(PIEZO2):c.330-2dup rs1342634570 0.00001
NM_001378183.1(PIEZO2):c.3406G>A (p.Ala1136Thr) rs1436524011 0.00001
NM_001378183.1(PIEZO2):c.3452C>A (p.Thr1151Asn) rs1057524577 0.00001
NM_001378183.1(PIEZO2):c.3662C>T (p.Pro1221Leu) rs944241749 0.00001
NM_001378183.1(PIEZO2):c.3824C>T (p.Ala1275Val) rs2510637948 0.00001
NM_001378183.1(PIEZO2):c.3829C>A (p.Arg1277=) rs762874609 0.00001
NM_001378183.1(PIEZO2):c.3877G>T (p.Ala1293Ser) rs979333670 0.00001
NM_001378183.1(PIEZO2):c.4215G>C (p.Trp1405Cys) rs778876785 0.00001
NM_001378183.1(PIEZO2):c.4458A>C (p.Lys1486Asn) rs956535313 0.00001
NM_001378183.1(PIEZO2):c.470C>T (p.Pro157Leu) rs1025310776 0.00001
NM_001378183.1(PIEZO2):c.5209A>G (p.Thr1737Ala) rs1037493936 0.00001
NM_001378183.1(PIEZO2):c.5833A>G (p.Ser1945Gly) rs1397611590 0.00001
NM_001378183.1(PIEZO2):c.6583T>A (p.Ser2195Thr) rs1302772789 0.00001
NM_001378183.1(PIEZO2):c.7081C>T (p.Arg2361Ter) rs781461197 0.00001
NM_001378183.1(PIEZO2):c.713T>G (p.Leu238Trp) rs927091191 0.00001
NM_001378183.1(PIEZO2):c.1108G>T (p.Asp370Tyr)
NM_001378183.1(PIEZO2):c.1171G>C (p.Ala391Pro) rs749474073
NM_001378183.1(PIEZO2):c.1287C>G (p.Ile429Met)
NM_001378183.1(PIEZO2):c.1340C>G (p.Thr447Ser) rs1290844138
NM_001378183.1(PIEZO2):c.1448G>A (p.Ser483Asn)
NM_001378183.1(PIEZO2):c.1504A>C (p.Ile502Leu)
NM_001378183.1(PIEZO2):c.1535G>A (p.Ser512Asn) rs1555648285
NM_001378183.1(PIEZO2):c.1615T>A (p.Tyr539Asn)
NM_001378183.1(PIEZO2):c.1619C>T (p.Ala540Val) rs868273217
NM_001378183.1(PIEZO2):c.1795C>G (p.Gln599Glu) rs2510749371
NM_001378183.1(PIEZO2):c.1809G>T (p.Glu603Asp)
NM_001378183.1(PIEZO2):c.1816G>A (p.Ala606Thr)
NM_001378183.1(PIEZO2):c.1832A>G (p.Glu611Gly)
NM_001378183.1(PIEZO2):c.1856T>A (p.Ile619Asn) rs2510749047
NM_001378183.1(PIEZO2):c.1922A>G (p.Lys641Arg)
NM_001378183.1(PIEZO2):c.1926_1934del (p.Glu645_Glu647del) rs2039334969
NM_001378183.1(PIEZO2):c.1986A>C (p.Glu662Asp) rs2510743731
NM_001378183.1(PIEZO2):c.2136G>A (p.Met712Ile) rs2510742988
NM_001378183.1(PIEZO2):c.2252T>C (p.Ile751Thr)
NM_001378183.1(PIEZO2):c.2383A>G (p.Thr795Ala) rs1555646155
NM_001378183.1(PIEZO2):c.2414T>C (p.Leu805Pro) rs761844949
NM_001378183.1(PIEZO2):c.241T>G (p.Leu81Val)
NM_001378183.1(PIEZO2):c.2568-3C>T rs895647630
NM_001378183.1(PIEZO2):c.2587A>T (p.Ser863Cys) rs761199576
NM_001378183.1(PIEZO2):c.3025A>G (p.Ser1009Gly)
NM_001378183.1(PIEZO2):c.3047G>A (p.Cys1016Tyr)
NM_001378183.1(PIEZO2):c.3088A>G (p.Ile1030Val)
NM_001378183.1(PIEZO2):c.3095C>A (p.Pro1032His)
NM_001378183.1(PIEZO2):c.3599G>A (p.Cys1200Tyr) rs2510647981
NM_001378183.1(PIEZO2):c.377A>C (p.Asp126Ala) rs2511000480
NM_001378183.1(PIEZO2):c.3838G>A (p.Ala1280Thr) rs2510637834
NM_001378183.1(PIEZO2):c.3947T>C (p.Val1316Ala) rs2510610029
NM_001378183.1(PIEZO2):c.3988A>G (p.Ile1330Val) rs2510609780
NM_001378183.1(PIEZO2):c.4010G>A (p.Arg1337Lys)
NM_001378183.1(PIEZO2):c.4123A>G (p.Ile1375Val) rs2037693003
NM_001378183.1(PIEZO2):c.4129T>G (p.Tyr1377Asp) rs1249145254
NM_001378183.1(PIEZO2):c.4252G>T (p.Gly1418Cys)
NM_001378183.1(PIEZO2):c.4373A>G (p.Tyr1458Cys)
NM_001378183.1(PIEZO2):c.4521T>G (p.Asp1507Glu) rs2037268144
NM_001378183.1(PIEZO2):c.4531G>C (p.Ala1511Pro) rs2037267772
NM_001378183.1(PIEZO2):c.4583A>G (p.Gln1528Arg)
NM_001378183.1(PIEZO2):c.4928C>A (p.Ala1643Asp) rs1064796247
NM_001378183.1(PIEZO2):c.5114A>C (p.Asn1705Thr)
NM_001378183.1(PIEZO2):c.5183T>G (p.Ile1728Ser) rs1162715886
NM_001378183.1(PIEZO2):c.5652G>A (p.Val1884=) rs2143788239
NM_001378183.1(PIEZO2):c.6011A>G (p.Asp2004Gly)
NM_001378183.1(PIEZO2):c.603C>G (p.Phe201Leu) rs2041728071
NM_001378183.1(PIEZO2):c.6144G>A (p.Met2048Ile)
NM_001378183.1(PIEZO2):c.6234G>A (p.Trp2078Ter) rs1555627917
NM_001378183.1(PIEZO2):c.6343C>A (p.His2115Asn)
NM_001378183.1(PIEZO2):c.64+6T>A rs924419425
NM_001378183.1(PIEZO2):c.6465T>A (p.Asp2155Glu) rs2510281326
NM_001378183.1(PIEZO2):c.6466G>T (p.Asp2156Tyr)
NM_001378183.1(PIEZO2):c.6887A>G (p.Tyr2296Cys) rs2143685640
NM_001378183.1(PIEZO2):c.6904G>C (p.Val2302Leu) rs777643703
NM_001378183.1(PIEZO2):c.7133T>C (p.Ile2378Thr)
NM_001378183.1(PIEZO2):c.7174C>A (p.Pro2392Thr)
NM_001378183.1(PIEZO2):c.7337T>A (p.Phe2446Tyr)
NM_001378183.1(PIEZO2):c.7406C>T (p.Thr2469Met) rs878853137
NM_001378183.1(PIEZO2):c.7502A>G (p.Tyr2501Cys)
NM_001378183.1(PIEZO2):c.7550T>G (p.Met2517Arg) rs2510238565
NM_001378183.1(PIEZO2):c.7564A>C (p.Ile2522Leu)
NM_001378183.1(PIEZO2):c.7729A>C (p.Met2577Leu) rs1598348519
NM_001378183.1(PIEZO2):c.7815A>T (p.Glu2605Asp) rs2143488038
NM_001378183.1(PIEZO2):c.7820T>C (p.Ile2607Thr) rs2143487888
NM_001378183.1(PIEZO2):c.7936dup (p.Ser2646fs)
NM_001378183.1(PIEZO2):c.8078C>A (p.Pro2693Gln)
NM_001378183.1(PIEZO2):c.8078C>T (p.Pro2693Leu)
NM_001378183.1(PIEZO2):c.8161+5G>C rs2033940265
NM_001378183.1(PIEZO2):c.8288T>G (p.Leu2763Arg) rs2510217844
NM_001378183.1(PIEZO2):c.8320A>G (p.Ser2774Gly) rs1598338160
NM_001378183.1(PIEZO2):c.8480T>C (p.Ile2827Thr) rs2143373229
NM_001378183.1(PIEZO2):c.8521G>A (p.Asp2841Asn)
NM_001378183.1(PIEZO2):c.8541A>G (p.Ile2847Met)
NM_001378183.1(PIEZO2):c.8555C>T (p.Ser2852Leu) rs2033776473
NM_001378183.1(PIEZO2):c.895C>A (p.Pro299Thr)

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