ClinVar Miner

List of variants in gene TECPR2 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_014844.5(TECPR2):c.958G>A (p.Val320Ile) rs1309353 0.93726
NM_014844.5(TECPR2):c.2934-236A>G rs1190552 0.74118
NM_014844.5(TECPR2):c.638+193T>G rs9324048 0.71390
NM_014844.5(TECPR2):c.*60A>G rs2403058 0.71373
NM_014844.5(TECPR2):c.3407-45T>C rs1190554 0.69095
NM_014844.5(TECPR2):c.1085-175C>T rs1190542 0.66655
NM_014844.5(TECPR2):c.480+244A>G rs2274045 0.37822
NM_014844.5(TECPR2):c.951+18A>G rs4906197 0.35713
NM_014844.5(TECPR2):c.348+83A>G rs60215817 0.25911
NM_014844.5(TECPR2):c.2047A>G (p.Ile683Val) rs10149146 0.25663
NM_014844.5(TECPR2):c.2934-230T>C rs2273907 0.21592
NM_014844.5(TECPR2):c.1418-236C>T rs3759567 0.21565
NM_014844.5(TECPR2):c.3640+83C>T rs2295976 0.21436
NM_014844.5(TECPR2):c.2933+259A>G rs11624218 0.20880
NM_014844.5(TECPR2):c.1085-247A>G rs111575651 0.16850
NM_014844.5(TECPR2):c.1085-203T>C rs111810795 0.13112
NM_014844.5(TECPR2):c.1869G>A (p.Gly623=) rs45605932 0.12774
NM_014844.5(TECPR2):c.3075+184G>A rs73351364 0.10440
NM_014844.5(TECPR2):c.2760C>T (p.Ser920=) rs17100923 0.10438
NM_014844.5(TECPR2):c.1085-202G>A rs147513146 0.09466
NM_014844.5(TECPR2):c.3790-309G>A rs73353412 0.09210
NM_014844.5(TECPR2):c.1418-155G>T rs45622733 0.09166
NM_014844.5(TECPR2):c.3789+141T>A rs73351378 0.09149
NM_014844.5(TECPR2):c.1418-165G>A rs67088231 0.08306
NM_014844.5(TECPR2):c.1085-219T>C rs11626103 0.07429
NM_014844.5(TECPR2):c.1085-200C>G rs11621368 0.05918
NM_014844.5(TECPR2):c.1085-163T>C rs117648389 0.05655
NM_014844.5(TECPR2):c.1085-211G>A rs11621427 0.05271
NM_014844.5(TECPR2):c.2395-256G>A rs17718112 0.04823
NM_014844.5(TECPR2):c.1085-297T>C rs137917940 0.04735
NM_014844.5(TECPR2):c.3075+110A>G rs115378843 0.04187
NM_014844.5(TECPR2):c.2578+257T>C rs17718208 0.04172
NM_014844.5(TECPR2):c.2752+91G>A rs2295974 0.04168
NM_014844.5(TECPR2):c.3075+107C>T rs78987088 0.04167
NM_014844.5(TECPR2):c.3076-62G>A rs76998408 0.04165
NM_014844.5(TECPR2):c.1614A>G (p.Pro538=) rs17791240 0.04164
NM_014844.5(TECPR2):c.3316+112T>C rs2281702 0.04162
NM_014844.5(TECPR2):c.1315C>T (p.Pro439Ser) rs2273906 0.04157
NM_014844.5(TECPR2):c.2579-238G>T rs79844991 0.04150
NM_014844.5(TECPR2):c.3641-118A>G rs2277467 0.04140
NM_014844.5(TECPR2):c.1156G>A (p.Ala386Thr) rs11845676 0.04113
NM_014844.5(TECPR2):c.952-239T>C rs114690031 0.04085
NM_014844.5(TECPR2):c.-20A>C rs2296145 0.03960
NM_014844.5(TECPR2):c.220-290C>T rs143760559 0.03721
NM_014844.5(TECPR2):c.348+256T>C rs138413687 0.03718
NM_014844.5(TECPR2):c.349-85T>C rs77092091 0.03717
NM_014844.5(TECPR2):c.2050C>G (p.Leu684Val) rs45467297 0.03285
NM_014844.5(TECPR2):c.3790-188T>C rs11626608 0.03279
NM_014844.5(TECPR2):c.2579-284G>A rs17718277 0.02973
NM_014844.5(TECPR2):c.3790-333T>C rs77310359 0.02731
NM_014844.5(TECPR2):c.3789+112G>A rs78678965 0.02650
NM_014844.5(TECPR2):c.2934-155C>G rs2273908 0.02593
NM_014844.5(TECPR2):c.-72-211A>G rs17588387 0.02592
NM_014844.5(TECPR2):c.219+272G>A rs117477739 0.02591
NM_014844.5(TECPR2):c.-2C>T rs17100874 0.02432
NM_014844.5(TECPR2):c.2753-103T>C rs114375032 0.02191
NM_014844.5(TECPR2):c.4081+77A>G rs71417803 0.01975
NM_014844.5(TECPR2):c.1802C>T (p.Pro601Leu) rs118141823 0.01676
NM_014844.5(TECPR2):c.219+242G>A rs138924292 0.01587
NM_014844.5(TECPR2):c.349-293G>A rs117847013 0.01572
NM_014844.5(TECPR2):c.1085-242G>A rs541537021 0.01519
NM_014844.5(TECPR2):c.2941C>A (p.Gln981Lys) rs62000389 0.01415
NM_014844.5(TECPR2):c.4082-32G>A rs75405230 0.01335
NM_014844.5(TECPR2):c.480+169A>T rs117611581 0.01159
NM_014844.5(TECPR2):c.2395-208T>C rs115192165 0.01126
NM_014844.5(TECPR2):c.3790-200C>G rs111423280 0.01079
NM_014844.5(TECPR2):c.220-313A>G rs60110496 0.01003
NM_014844.5(TECPR2):c.639-286C>T rs79626131 0.00972
NM_014844.5(TECPR2):c.2934-311C>T rs74085430 0.00971
NM_014844.5(TECPR2):c.*36G>A rs138500705 0.00893
NM_014844.5(TECPR2):c.952-5G>A rs55716270 0.00869
NM_014844.5(TECPR2):c.*82G>A rs143901912 0.00859
NM_014844.5(TECPR2):c.952-22T>G rs765768957 0.00859
NM_014844.5(TECPR2):c.3640+102G>C rs138868772 0.00659
NM_014844.5(TECPR2):c.3317-116T>C rs113445898 0.00654
NM_014844.5(TECPR2):c.4082-16G>A rs116168966 0.00545
NM_014844.5(TECPR2):c.3275C>T (p.Ser1092Leu) rs72700618 0.00388
NM_014844.5(TECPR2):c.3075+18C>T rs140418145 0.00371
NM_014844.5(TECPR2):c.3931+32G>A rs200489903 0.00369
NM_014844.5(TECPR2):c.2579-234C>T rs371032286 0.00368
NM_014844.5(TECPR2):c.3790-18G>C rs138918519 0.00368
NM_014844.5(TECPR2):c.1789C>T (p.Leu597Phe) rs116185336 0.00363
NM_014844.5(TECPR2):c.3641-60A>G rs140282668 0.00349
NM_014844.5(TECPR2):c.3640+235A>G rs116257800 0.00340
NM_014844.5(TECPR2):c.2939G>C (p.Arg980Thr) rs144147210 0.00331
NM_014844.5(TECPR2):c.2934-245A>G rs147581511 0.00327
NM_014844.5(TECPR2):c.3317-282A>G rs115066400 0.00315
NM_014844.5(TECPR2):c.1260C>T (p.Ser420=) rs147784739 0.00286
NM_014844.5(TECPR2):c.1470C>T (p.Ser490=) rs149584733 0.00245
NM_014844.5(TECPR2):c.-28G>A rs184890979 0.00230
NM_014844.5(TECPR2):c.4089G>A (p.Ala1363=) rs139314486 0.00134
NM_014844.5(TECPR2):c.952-23T>G rs760017733 0.00118
NM_014844.5(TECPR2):c.1644T>G (p.Asn548Lys) rs72700613 0.00114
NM_014844.5(TECPR2):c.952-21T>G rs752188977 0.00113
NM_014844.5(TECPR2):c.952-18T>G rs564260248 0.00071
NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys) rs144915346 0.00065
NM_014844.5(TECPR2):c.606T>C (p.Ser202=) rs140791062 0.00061
NM_014844.5(TECPR2):c.4033G>A (p.Ala1345Thr) rs77170608 0.00051
NM_014844.5(TECPR2):c.2330G>A (p.Ser777Asn) rs144849839 0.00038
NM_014844.5(TECPR2):c.2323G>A (p.Gly775Arg) rs138725425 0.00029
NM_014844.5(TECPR2):c.2807C>T (p.Pro936Leu) rs373173535 0.00017
NM_014844.5(TECPR2):c.2966C>T (p.Thr989Met) rs140963558 0.00014
NM_014844.5(TECPR2):c.714C>T (p.Pro238=) rs141078176 0.00011
NM_014844.5(TECPR2):c.-3G>A rs190179991 0.00010
NM_014844.5(TECPR2):c.1319del (p.Leu440fs) rs750908377 0.00008
NM_014844.5(TECPR2):c.1458G>A (p.Ser486=) rs775531821 0.00003
NM_014844.5(TECPR2):c.1861T>G (p.Ser621Ala) rs917201729 0.00003
NM_014844.5(TECPR2):c.2625T>C (p.Ala875=) rs779230418 0.00003
NM_014844.5(TECPR2):c.348+11A>G rs750080249 0.00002
NM_014844.5(TECPR2):c.225G>A (p.Lys75=) rs866818130 0.00001
NM_014844.5(TECPR2):c.2395-19C>T rs749985958 0.00001
NM_014844.5(TECPR2):c.3182T>C (p.Val1061Ala) rs1567347217 0.00001
NM_014844.5(TECPR2):c.3196C>T (p.Arg1066Cys) rs776056002 0.00001
NM_014844.5(TECPR2):c.3416del (p.Leu1139fs) rs751970061 0.00001
NM_014844.5(TECPR2):c.4036G>A (p.Gly1346Arg) rs1891324648 0.00001
NM_014844.5(TECPR2):c.4085C>T (p.Thr1362Ile) rs766050891 0.00001
NM_014844.5(TECPR2):c.*253T>G rs567207024
NM_014844.5(TECPR2):c.1028_1032del (p.Lys343fs) rs1359602238
NM_014844.5(TECPR2):c.1085-169T>C rs151034203
NM_014844.5(TECPR2):c.1085-233T>C rs1190541
NM_014844.5(TECPR2):c.1085-240A>C rs35257572
NM_014844.5(TECPR2):c.1085-252G>A rs546375047
NM_014844.5(TECPR2):c.1085-253T>C rs187542455
NM_014844.5(TECPR2):c.1085-258T>C rs183472345
NM_014844.5(TECPR2):c.1085-281dup rs200952724
NM_014844.5(TECPR2):c.1085-292G>A rs186721303
NM_014844.5(TECPR2):c.1397AGA[7] (p.Lys471dup) rs572609303
NM_014844.5(TECPR2):c.1417+171AC[13] rs10650505
NM_014844.5(TECPR2):c.1417+171AC[14] rs10650505
NM_014844.5(TECPR2):c.1417+171AC[21] rs10650505
NM_014844.5(TECPR2):c.1417+171AC[9] rs10650505
NM_014844.5(TECPR2):c.1417+193_1417+194insACACACACACACACACACACACACACACACA rs1555451259
NM_014844.5(TECPR2):c.1606G>A (p.Gly536Ser) rs186595127
NM_014844.5(TECPR2):c.163G>A (p.Gly55Ser)
NM_014844.5(TECPR2):c.1666A>G (p.Met556Val) rs201791953
NM_014844.5(TECPR2):c.1944_1947del (p.Thr649fs) rs1595123894
NM_014844.5(TECPR2):c.2395-180G>C rs1190545
NM_014844.5(TECPR2):c.2578+30_2578+42del rs3831019
NM_014844.5(TECPR2):c.2753-127dup rs372294560
NM_014844.5(TECPR2):c.2934-154C>T rs2273909
NM_014844.5(TECPR2):c.3235A>G (p.Ser1079Gly)
NM_014844.5(TECPR2):c.3476G>T (p.Arg1159Leu)
NM_014844.5(TECPR2):c.349-305dup rs79017118
NM_014844.5(TECPR2):c.3581C>T (p.Thr1194Met)
NM_014844.5(TECPR2):c.3628C>G (p.Leu1210Val)
NM_014844.5(TECPR2):c.3640+114G>C
NM_014844.5(TECPR2):c.3931+183G>A rs2236349
NM_014844.5(TECPR2):c.4082-75_4082-52dup rs146599191
NM_014844.5(TECPR2):c.4082-84C>T
NM_014844.5(TECPR2):c.4116G>T (p.Pro1372=) rs777406369
NM_014844.5(TECPR2):c.4192A>G (p.Met1398Val)
NM_014844.5(TECPR2):c.584T>C (p.Leu195Pro) rs2139702960
NM_014844.5(TECPR2):c.639-104G>A
NM_014844.5(TECPR2):c.71C>T (p.Pro24Leu) rs1048899038
NM_014844.5(TECPR2):c.774del (p.Asp259fs) rs772483312
NM_014844.5(TECPR2):c.951+274TTG[11] rs35980535
NM_014844.5(TECPR2):c.951+274TTG[7] rs35980535

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