ClinVar Miner

List of variants in gene combination TBCEL-TECTA, TECTA reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 170
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HGVS dbSNP gnomAD frequency
NM_005422.4(TECTA):c.5171G>A (p.Ser1724Asn) rs526433 0.99235
NM_005422.4(TECTA):c.1485A>G (p.Ala495=) rs536069 0.76077
NM_005422.4(TECTA):c.1111A>G (p.Arg371Gly) rs612969 0.48670
NM_005422.4(TECTA):c.4098G>A (p.Thr1366=) rs12275038 0.28426
NM_005422.4(TECTA):c.4105+13C>T rs7130952 0.26144
NM_005422.4(TECTA):c.2256C>T (p.Ile752=) rs10502247 0.25910
NM_005422.4(TECTA):c.5634C>T (p.Ser1878=) rs2155369 0.10906
NM_005422.4(TECTA):c.56A>G (p.Gln19Arg) rs35507522 0.03926
NM_005422.4(TECTA):c.624+11C>G rs73599492 0.03810
NM_005422.4(TECTA):c.5733T>G (p.Val1911=) rs516678 0.03205
NM_005422.4(TECTA):c.4422C>T (p.Asn1474=) rs33981325 0.02261
NM_005422.4(TECTA):c.3012C>G (p.Thr1004=) rs61291716 0.02153
NM_005422.4(TECTA):c.4751G>C (p.Ser1584Thr) rs34963131 0.02137
NM_005422.4(TECTA):c.4533C>T (p.Phe1511=) rs77628498 0.01098
NM_005422.4(TECTA):c.5383+3G>A rs73583199 0.01071
NM_005422.4(TECTA):c.6250+4T>C rs143302176 0.00811
NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu) rs142948530 0.00672
NM_005422.4(TECTA):c.4011G>A (p.Ala1337=) rs144441070 0.00634
NM_005422.4(TECTA):c.4074G>A (p.Thr1358=) rs141674508 0.00633
NM_005422.4(TECTA):c.790+12C>T rs138644808 0.00563
NM_005422.4(TECTA):c.-1-12T>C rs145916279 0.00352
NM_005422.4(TECTA):c.690C>T (p.Ile230=) rs34605023 0.00319
NM_005422.4(TECTA):c.972G>C (p.Val324=) rs147790742 0.00271
NM_005422.4(TECTA):c.3304G>A (p.Val1102Ile) rs34658230 0.00253
NM_005422.4(TECTA):c.1812C>T (p.Ser604=) rs138914618 0.00207
NM_005422.4(TECTA):c.1436C>T (p.Pro479Leu) rs35107075 0.00186
NM_005422.4(TECTA):c.701A>G (p.Gln234Arg) rs144682235 0.00179
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys) rs139165033 0.00171
NM_005422.4(TECTA):c.1834G>A (p.Asp612Asn) rs143730090 0.00160
NM_005422.4(TECTA):c.5160C>T (p.Asp1720=) rs142657158 0.00154
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386 0.00149
NM_005422.4(TECTA):c.625-4G>T rs142007879 0.00146
NM_005422.4(TECTA):c.3492C>T (p.Thr1164=) rs144012985 0.00138
NM_005422.4(TECTA):c.2123A>G (p.Lys708Arg) rs144932466 0.00123
NM_005422.4(TECTA):c.4720A>G (p.Ile1574Val) rs147354818 0.00123
NM_005422.4(TECTA):c.1085G>T (p.Ser362Ile) rs149001418 0.00104
NM_005422.4(TECTA):c.4788C>T (p.Ile1596=) rs150561147 0.00103
NM_005422.4(TECTA):c.1502C>T (p.Ser501Phe) rs148426950 0.00062
NM_005422.4(TECTA):c.4611C>T (p.Pro1537=) rs138477419 0.00057
NM_005422.4(TECTA):c.1509C>T (p.Cys503=) rs61733565 0.00050
NM_005422.4(TECTA):c.2299C>A (p.Arg767=) rs140534420 0.00041
NM_005422.4(TECTA):c.199-4G>A rs373736415 0.00034
NM_005422.4(TECTA):c.5273-8del rs727504781 0.00034
NM_005422.4(TECTA):c.1291A>T (p.Thr431Ser) rs138843691 0.00033
NM_005422.4(TECTA):c.552C>T (p.Tyr184=) rs148364865 0.00032
NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His) rs144343770 0.00032
NM_005422.4(TECTA):c.3406G>C (p.Asp1136His) rs147890616 0.00031
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu) rs138768918 0.00029
NM_005422.4(TECTA):c.3103G>A (p.Glu1035Lys) rs150512674 0.00028
NM_005422.4(TECTA):c.327C>T (p.Gly109=) rs727504830 0.00026
NM_005422.4(TECTA):c.4315C>A (p.Leu1439Ile) rs202199158 0.00026
NM_005422.4(TECTA):c.5766A>G (p.Thr1922=) rs149602974 0.00026
NM_005422.4(TECTA):c.1461A>G (p.Gly487=) rs202127508 0.00024
NM_005422.4(TECTA):c.4633G>A (p.Val1545Ile) rs377156351 0.00024
NM_005422.4(TECTA):c.2945T>C (p.Leu982Pro) rs141616288 0.00021
NM_005422.4(TECTA):c.3317G>A (p.Gly1106Asp) rs144844263 0.00021
NM_005422.4(TECTA):c.6250+12C>T rs199696601 0.00019
NM_005422.4(TECTA):c.33C>A (p.Val11=) rs140393508 0.00015
NM_005422.4(TECTA):c.1320T>C (p.Asp440=) rs141488594 0.00014
NM_005422.4(TECTA):c.4813G>A (p.Val1605Ile) rs201952240 0.00014
NM_005422.4(TECTA):c.6162C>T (p.Ile2054=) rs140608882 0.00014
NM_005422.4(TECTA):c.1425G>A (p.Pro475=) rs149533095 0.00013
NM_005422.4(TECTA):c.1968C>A (p.Gly656=) rs147246652 0.00013
NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter) rs199638531 0.00011
NM_005422.4(TECTA):c.915C>T (p.Cys305=) rs367974065 0.00011
NM_005422.4(TECTA):c.3315C>T (p.Tyr1105=) rs142573400 0.00010
NM_005422.4(TECTA):c.65-14A>G rs201171064 0.00009
NM_005422.4(TECTA):c.3511G>A (p.Val1171Met) rs186780639 0.00008
NM_005422.4(TECTA):c.2184C>T (p.Ser728=) rs148638616 0.00007
NM_005422.4(TECTA):c.2967C>A (p.His989Gln) rs200821009 0.00007
NM_005422.4(TECTA):c.4481T>C (p.Val1494Ala) rs200544452 0.00007
NM_005422.4(TECTA):c.6458C>T (p.Thr2153Met) rs146965680 0.00007
NM_005422.4(TECTA):c.696T>C (p.Asn232=) rs149758927 0.00007
NM_005422.4(TECTA):c.1123G>A (p.Val375Ile) rs752254649 0.00006
NM_005422.4(TECTA):c.1621G>A (p.Val541Met) rs370652301 0.00006
NM_005422.4(TECTA):c.4044C>T (p.Tyr1348=) rs758718634 0.00006
NM_005422.4(TECTA):c.5296G>A (p.Val1766Met) rs781245536 0.00006
NM_005422.4(TECTA):c.5304G>A (p.Ala1768=) rs373055342 0.00006
NM_005422.4(TECTA):c.5861C>T (p.Thr1954Met) rs542600464 0.00006
NM_005422.4(TECTA):c.6401C>T (p.Thr2134Met) rs372282487 0.00006
NM_005422.4(TECTA):c.2077G>A (p.Gly693Arg) rs200502160 0.00005
NM_005422.4(TECTA):c.1327C>T (p.His443Tyr) rs745831106 0.00004
NM_005422.4(TECTA):c.2358G>A (p.Ser786=) rs145498566 0.00004
NM_005422.4(TECTA):c.240C>T (p.Ser80=) rs142064539 0.00004
NM_005422.4(TECTA):c.358G>T (p.Ala120Ser) rs370688947 0.00004
NM_005422.4(TECTA):c.5007G>T (p.Gln1669His) rs1047688327 0.00004
NM_005422.4(TECTA):c.613G>C (p.Val205Leu) rs375107647 0.00004
NM_005422.4(TECTA):c.956C>A (p.Thr319Asn) rs372483012 0.00004
NM_005422.4(TECTA):c.1203+3G>A rs774205473 0.00003
NM_005422.4(TECTA):c.1522A>C (p.Thr508Pro) rs772553666 0.00003
NM_005422.4(TECTA):c.3291C>T (p.Asp1097=) rs763928462 0.00003
NM_005422.4(TECTA):c.3750T>C (p.Asp1250=) rs372087934 0.00003
NM_005422.4(TECTA):c.4097C>T (p.Thr1366Met) rs201860044 0.00003
NM_005422.4(TECTA):c.4167C>T (p.Cys1389=) rs745818507 0.00003
NM_005422.4(TECTA):c.4441A>G (p.Ser1481Gly) rs201946991 0.00003
NM_005422.4(TECTA):c.4802A>G (p.Asn1601Ser) rs758272613 0.00003
NM_005422.4(TECTA):c.5808C>T (p.Leu1936=) rs377039794 0.00003
NM_005422.4(TECTA):c.6033C>T (p.Ile2011=) rs1350403244 0.00003
NM_005422.4(TECTA):c.811G>C (p.Glu271Gln) rs555093382 0.00003
NM_005422.4(TECTA):c.878A>G (p.Tyr293Cys) rs185351501 0.00003
NM_005422.4(TECTA):c.2322C>T (p.Ala774=) rs200749722 0.00002
NM_005422.4(TECTA):c.4471G>A (p.Gly1491Ser) rs727503463 0.00002
NM_005422.4(TECTA):c.487-7C>G rs368627411 0.00002
NM_005422.4(TECTA):c.585C>T (p.Gly195=) rs372185673 0.00002
NM_005422.4(TECTA):c.5977C>T (p.Arg1993Ter) rs760574657 0.00002
NM_005422.4(TECTA):c.6089T>C (p.Ile2030Thr) rs876658017 0.00002
NM_005422.4(TECTA):c.907G>A (p.Glu303Lys) rs774583320 0.00002
NM_005422.4(TECTA):c.1129T>C (p.Trp377Arg) rs876658013 0.00001
NM_005422.4(TECTA):c.1572C>T (p.Cys524=) rs767426110 0.00001
NM_005422.4(TECTA):c.1699G>A (p.Ala567Thr) rs727503457 0.00001
NM_005422.4(TECTA):c.1871C>T (p.Ala624Val) rs1248649998 0.00001
NM_005422.4(TECTA):c.3440A>G (p.Asn1147Ser) rs1184726805 0.00001
NM_005422.4(TECTA):c.3619G>A (p.Val1207Met) rs746231346 0.00001
NM_005422.4(TECTA):c.3769G>A (p.Gly1257Ser) rs727504469 0.00001
NM_005422.4(TECTA):c.3857C>T (p.Pro1286Leu) rs770133038 0.00001
NM_005422.4(TECTA):c.3940T>C (p.Cys1314Arg) rs767018367 0.00001
NM_005422.4(TECTA):c.4047C>T (p.Ala1349=) rs768673774 0.00001
NM_005422.4(TECTA):c.4067G>A (p.Gly1356Glu) rs727503461 0.00001
NM_005422.4(TECTA):c.430G>A (p.Val144Ile) rs973063526 0.00001
NM_005422.4(TECTA):c.4384C>T (p.Arg1462Cys) rs727503462 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_005422.4(TECTA):c.5839C>T (p.Arg1947Cys) rs1428598791 0.00001
NM_005422.4(TECTA):c.586G>A (p.Gly196Ser) rs751960882 0.00001
NM_005422.4(TECTA):c.6115C>T (p.His2039Tyr) rs727503465 0.00001
NM_005422.4(TECTA):c.6155G>A (p.Cys2052Tyr) rs727503467 0.00001
NM_005422.4(TECTA):c.6163-2A>T rs876657661 0.00001
NM_005422.4(TECTA):c.6303G>A (p.Arg2101=) rs727505252 0.00001
NM_005422.4(TECTA):c.706A>G (p.Thr236Ala) rs200752577 0.00001
NM_005422.4(TECTA):c.187C>T (p.Arg63Cys) rs876658015
NM_005422.4(TECTA):c.1917_1937dup (p.Ser640_Pro646dup) rs1555123919
NM_005422.4(TECTA):c.1966G>A (p.Gly656Ser) rs1555123944
NM_005422.4(TECTA):c.2032G>A (p.Glu678Lys) rs727504744
NM_005422.4(TECTA):c.2134G>C (p.Val712Leu) rs876657587
NM_005422.4(TECTA):c.2139C>A (p.Cys713Ter) rs768295360
NM_005422.4(TECTA):c.2199C>G (p.Ser733=) rs397517145
NM_005422.4(TECTA):c.2271G>A (p.Lys757=) rs369114054
NM_005422.4(TECTA):c.2308C>A (p.Arg770=) rs727503458
NM_005422.4(TECTA):c.2995A>G (p.Thr999Ala) rs1408773314
NM_005422.4(TECTA):c.3375C>T (p.Ile1125=) rs1946747020
NM_005422.4(TECTA):c.3898C>T (p.Leu1300=) rs527881617
NM_005422.4(TECTA):c.3925G>A (p.Ala1309Thr) rs727504621
NM_005422.4(TECTA):c.4004G>A (p.Gly1335Glu) rs148619105
NM_005422.4(TECTA):c.4163G>T (p.Arg1388Leu) rs150016625
NM_005422.4(TECTA):c.4263G>A (p.Leu1421=) rs563775304
NM_005422.4(TECTA):c.4510C>T (p.Arg1504Cys) rs727505218
NM_005422.4(TECTA):c.4527C>G (p.Cys1509Trp) rs727503464
NM_005422.4(TECTA):c.458C>T (p.Thr153Met) rs1555121799
NM_005422.4(TECTA):c.4651G>A (p.Glu1551Lys) rs1452561308
NM_005422.4(TECTA):c.4690-15T>C rs727505055
NM_005422.4(TECTA):c.5030G>T (p.Cys1677Phe) rs759579205
NM_005422.4(TECTA):c.5074C>A (p.Leu1692Met) rs1591461270
NM_005422.4(TECTA):c.5086G>A (p.Asp1696Asn) rs1017300729
NM_005422.4(TECTA):c.5235del (p.Ile1746fs) rs1229070290
NM_005422.4(TECTA):c.5549T>G (p.Ile1850Ser) rs1591463453
NM_005422.4(TECTA):c.5662A>G (p.Arg1888Gly) rs1591464171
NM_005422.4(TECTA):c.5692T>C (p.Cys1898Arg) rs1591464207
NM_005422.4(TECTA):c.5717_5718inv (p.Ile1906Arg)
NM_005422.4(TECTA):c.5743A>G (p.Met1915Val) rs749089815
NM_005422.4(TECTA):c.5754_5755del (p.Val1918_Ile1919insTer) rs1555129231
NM_005422.4(TECTA):c.5955C>A (p.Thr1985=) rs727503466
NM_005422.4(TECTA):c.5999G>A (p.Gly2000Glu) rs1591464681
NM_005422.4(TECTA):c.601G>T (p.Gly201Cys) rs727503456
NM_005422.4(TECTA):c.6134G>T (p.Cys2045Phe) rs1555132232
NM_005422.4(TECTA):c.6233G>T (p.Gly2078Val) rs1555132399
NM_005422.4(TECTA):c.6236C>A (p.Pro2079His) rs1555132402
NM_005422.4(TECTA):c.6346G>C (p.Glu2116Gln) rs372023989
NM_005422.4(TECTA):c.721G>A (p.Val241Ile) rs773034636
NM_005422.4(TECTA):c.850C>T (p.Arg284Cys) rs1176214445
NM_005422.4(TECTA):c.888G>A (p.Glu296=) rs876657588
NM_005422.4(TECTA):c.90A>T (p.Pro30=) rs577470721

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