ClinVar Miner

List of variants in gene SEC63 studied for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 235
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HGVS dbSNP gnomAD frequency
NM_007214.5(SEC63):c.*1705G>A rs672444 0.97811
NM_007214.5(SEC63):c.*3580G>A rs847120 0.96448
NM_007214.5(SEC63):c.*3431A>C rs592989 0.95947
NM_007214.5(SEC63):c.*3393C>T rs592939 0.95867
NM_007214.5(SEC63):c.-77C>T rs2272884 0.94610
NM_007214.5(SEC63):c.*2662G>A rs513325 0.88235
NM_007214.5(SEC63):c.*123T>A rs503068 0.88225
NM_007214.5(SEC63):c.*1526T>C rs557911 0.88213
NM_007214.5(SEC63):c.*1398A>C rs556907 0.88211
NM_007214.5(SEC63):c.564C>T (p.Asn188=) rs675117 0.87051
NM_007214.5(SEC63):c.*1901A>G rs10872020 0.77629
NM_007214.5(SEC63):c.1936-7_1936-5dup rs766716921 0.15112
NM_007214.5(SEC63):c.*3497A>G rs6933329 0.12986
NM_007214.5(SEC63):c.*2811C>T rs74799313 0.04057
NM_007214.5(SEC63):c.*3334C>T rs112894937 0.03601
NM_007214.5(SEC63):c.1666G>A (p.Val556Ile) rs17854547 0.03299
NM_007214.5(SEC63):c.*3170C>T rs12529777 0.01848
NM_007214.5(SEC63):c.2027C>T (p.Thr676Ile) rs61733388 0.01749
NM_007214.5(SEC63):c.340-12del rs58827902 0.01010
NM_007214.5(SEC63):c.1936-4C>T rs1456647065 0.00789
NM_007214.5(SEC63):c.*3895T>C rs12661966 0.00781
NM_007214.5(SEC63):c.*3128G>A rs114322175 0.00730
NM_007214.5(SEC63):c.*2376A>T rs78776458 0.00729
NM_007214.5(SEC63):c.*256T>C rs111637159 0.00617
NM_007214.5(SEC63):c.*861A>G rs9480810 0.00459
NM_007214.5(SEC63):c.*411C>T rs140498555 0.00417
NM_007214.5(SEC63):c.*3390G>A rs142738269 0.00408
NM_007214.5(SEC63):c.*1839C>G rs150031834 0.00334
NM_007214.5(SEC63):c.*2456G>A rs151325651 0.00328
NM_007214.5(SEC63):c.*3948A>T rs374547546 0.00283
NM_007214.5(SEC63):c.2134T>C (p.Leu712=) rs61733387 0.00201
NM_007214.5(SEC63):c.*1113_*1115del rs541858963 0.00198
NM_007214.5(SEC63):c.*3127C>T rs541730962 0.00166
NM_007214.5(SEC63):c.*3501A>G rs377612532 0.00149
NM_007214.5(SEC63):c.*3498C>T rs577860076 0.00148
NM_007214.5(SEC63):c.*3502C>T rs181941841 0.00138
NM_007214.5(SEC63):c.*3510T>A rs555871275 0.00097
NM_007214.5(SEC63):c.*3489A>G rs1027018659 0.00096
NM_007214.5(SEC63):c.1278C>T (p.Phe426=) rs146559698 0.00093
NM_007214.5(SEC63):c.340-7T>C rs1569557 0.00081
NM_007214.5(SEC63):c.*1071G>C rs538845937 0.00077
NM_007214.5(SEC63):c.1441-4C>G rs200112157 0.00071
NM_007214.5(SEC63):c.*2886A>C rs182441835 0.00063
NM_007214.5(SEC63):c.1674T>C (p.Asn558=) rs143570743 0.00060
NM_007214.5(SEC63):c.*2046C>G rs139373195 0.00059
NM_007214.5(SEC63):c.*1037A>G rs536922747 0.00058
NM_007214.5(SEC63):c.*129G>A rs552904217 0.00058
NM_007214.5(SEC63):c.*936C>T rs141309531 0.00049
NM_007214.5(SEC63):c.*1108A>G rs560882192 0.00048
NM_007214.5(SEC63):c.230T>C (p.Ile77Thr) rs140251976 0.00036
NM_007214.5(SEC63):c.*2086G>C rs550478845 0.00034
NM_007214.4(SEC63):c.-237C>T rs563388363 0.00030
NM_007214.5(SEC63):c.*2465C>T rs558416401 0.00030
NM_007214.5(SEC63):c.*1230T>C rs188437808 0.00024
NM_007214.5(SEC63):c.*358T>C rs529945456 0.00024
NM_007214.5(SEC63):c.574-20C>G rs369895256 0.00024
NM_007214.5(SEC63):c.*3133C>A rs890357088 0.00023
NM_007214.5(SEC63):c.1210-7T>A rs201986291 0.00019
NM_007214.5(SEC63):c.2034+10A>G rs200406751 0.00019
NM_007214.5(SEC63):c.*1612T>C rs76842245 0.00018
NM_007214.5(SEC63):c.*1941C>T rs886060944 0.00018
NM_007214.5(SEC63):c.*2624T>C rs368337970 0.00016
NM_007214.5(SEC63):c.*514T>C rs557190642 0.00016
NM_007214.5(SEC63):c.340-8T>C rs1569556 0.00016
NM_007214.5(SEC63):c.*3469T>G rs540628373 0.00015
NM_007214.5(SEC63):c.1984A>G (p.Thr662Ala) rs201416954 0.00014
NM_007214.5(SEC63):c.*1920_*1921insC rs886060948 0.00013
NM_007214.5(SEC63):c.*1685A>C rs558069212 0.00012
NM_007214.5(SEC63):c.2025T>A (p.Asp675Glu) rs141211769 0.00012
NM_007214.5(SEC63):c.*874A>G rs756408316 0.00010
NM_007214.5(SEC63):c.807G>A (p.Thr269=) rs182467867 0.00009
NM_007214.5(SEC63):c.*3819A>G rs1030448903 0.00008
NM_007214.5(SEC63):c.*2131C>T rs935591622 0.00007
NM_007214.5(SEC63):c.*257A>G rs148053936 0.00006
NM_007214.5(SEC63):c.*3032A>G rs923296669 0.00006
NM_007214.5(SEC63):c.*3704C>G rs554141897 0.00006
NM_007214.5(SEC63):c.*3772G>A rs886060935 0.00006
NM_007214.5(SEC63):c.237G>A (p.Leu79=) rs146134069 0.00006
NM_007214.4(SEC63):c.-268C>A rs565916525 0.00005
NM_007214.5(SEC63):c.*3210C>T rs570848637 0.00004
NM_007214.5(SEC63):c.*907C>T rs571893658 0.00004
NM_007214.5(SEC63):c.1176G>A (p.Glu392=) rs61754483 0.00004
NM_007214.5(SEC63):c.453-11T>C rs374073392 0.00004
NM_007214.5(SEC63):c.*2876T>C rs375514344 0.00003
NM_007214.5(SEC63):c.*3107T>C rs778940501 0.00003
NM_007214.5(SEC63):c.*3116T>C rs994941537 0.00003
NM_007214.5(SEC63):c.1441-5C>T rs370312823 0.00003
NM_007214.5(SEC63):c.2205G>C (p.Gly735=) rs761321161 0.00003
NM_007214.5(SEC63):c.*1113T>C rs886060953 0.00002
NM_007214.5(SEC63):c.*2522G>C rs886060943 0.00002
NM_007214.5(SEC63):c.*549C>T rs1251167096 0.00002
NM_007214.5(SEC63):c.910C>A (p.Leu304Ile) rs745328381 0.00002
NM_007214.4(SEC63):c.-215G>A rs532894703 0.00001
NM_007214.4(SEC63):c.-264T>C rs565275212 0.00001
NM_007214.5(SEC63):c.*1655G>A rs1261761696 0.00001
NM_007214.5(SEC63):c.*2301A>G rs1288272637 0.00001
NM_007214.5(SEC63):c.*24T>C rs1262061519 0.00001
NM_007214.5(SEC63):c.*2607G>C rs549810875 0.00001
NM_007214.5(SEC63):c.*2783G>A rs1390017904 0.00001
NM_007214.5(SEC63):c.*2833A>C rs886060942 0.00001
NM_007214.5(SEC63):c.*3432dup rs886060939 0.00001
NM_007214.5(SEC63):c.*437A>G rs1786126405 0.00001
NM_007214.5(SEC63):c.1441-9G>T rs767036637 0.00001
NM_007214.5(SEC63):c.173G>A (p.Trp58Ter) rs119103233 0.00001
NM_007214.5(SEC63):c.2006_2007del (p.His669fs) rs1403483213 0.00001
NM_007214.5(SEC63):c.2028A>G (p.Thr676=) rs781747090 0.00001
NM_007214.5(SEC63):c.292C>T (p.Arg98Ter) rs768568123 0.00001
NM_007214.5(SEC63):c.374G>A (p.Arg125His) rs765447143 0.00001
NM_007214.5(SEC63):c.452+1G>A rs869312977 0.00001
NM_007214.5(SEC63):c.452+3A>G rs767207844 0.00001
NM_007214.5(SEC63):c.452C>T (p.Ala151Val) rs1360860173 0.00001
NM_007214.5(SEC63):c.828+13T>C rs886060955 0.00001
NM_007214.4(SEC63):c.*3959dupT rs112734053
NM_007214.5(SEC63):c.*1061G>A rs1786109364
NM_007214.5(SEC63):c.*1178T>G rs114792201
NM_007214.5(SEC63):c.*1343G>A rs886060952
NM_007214.5(SEC63):c.*1420T>G rs1786099842
NM_007214.5(SEC63):c.*1433T>C rs886060951
NM_007214.5(SEC63):c.*1471A>G rs886060950
NM_007214.5(SEC63):c.*1475C>T rs1786097916
NM_007214.5(SEC63):c.*1568G>A rs1386667349
NM_007214.5(SEC63):c.*1650G>A rs1048774131
NM_007214.5(SEC63):c.*1696G>A rs1040060632
NM_007214.5(SEC63):c.*1725G>C rs1786092371
NM_007214.5(SEC63):c.*1760T>C rs1786091763
NM_007214.5(SEC63):c.*1787GTT[1] rs886060949
NM_007214.5(SEC63):c.*1790_*1793del rs150602806
NM_007214.5(SEC63):c.*1832A>G rs1583715416
NM_007214.5(SEC63):c.*1926_*1931del rs55885857
NM_007214.5(SEC63):c.*1927_*1932del rs772400721
NM_007214.5(SEC63):c.*1931A>C rs1162139145
NM_007214.5(SEC63):c.*1931dup rs55885857
NM_007214.5(SEC63):c.*1932_*1933insA rs886060946
NM_007214.5(SEC63):c.*1932_*1937del rs886060945
NM_007214.5(SEC63):c.*1936del rs535127807
NM_007214.5(SEC63):c.*2041A>G rs1027905260
NM_007214.5(SEC63):c.*2223G>A rs9986549
NM_007214.5(SEC63):c.*2287G>T rs1040000139
NM_007214.5(SEC63):c.*2379G>C rs997269603
NM_007214.5(SEC63):c.*2479dup rs200116970
NM_007214.5(SEC63):c.*2504dup rs113337131
NM_007214.5(SEC63):c.*2618C>A rs1409152408
NM_007214.5(SEC63):c.*2704A>G rs1786062150
NM_007214.5(SEC63):c.*2705T>C rs687374
NM_007214.5(SEC63):c.*273A>C rs1786130714
NM_007214.5(SEC63):c.*2791T>C rs1786060526
NM_007214.5(SEC63):c.*2862A>G rs886060941
NM_007214.5(SEC63):c.*2946C>T rs748298477
NM_007214.5(SEC63):c.*3031del rs34250899
NM_007214.5(SEC63):c.*3031dup rs34250899
NM_007214.5(SEC63):c.*3171G>C rs542434422
NM_007214.5(SEC63):c.*3430A>G rs1040445530
NM_007214.5(SEC63):c.*3434A>G rs886060938
NM_007214.5(SEC63):c.*3456T>C rs1786043838
NM_007214.5(SEC63):c.*3480del rs56104837
NM_007214.5(SEC63):c.*3480dup rs56104837
NM_007214.5(SEC63):c.*3499A>C rs143966094
NM_007214.5(SEC63):c.*3574_*3575insGAC rs10685655
NM_007214.5(SEC63):c.*3705T>G rs886060936
NM_007214.5(SEC63):c.*3800A>G rs886060934
NM_007214.5(SEC63):c.*396T>A rs368205255
NM_007214.5(SEC63):c.*396T>C rs368205255
NM_007214.5(SEC63):c.*432G>A rs970506593
NM_007214.5(SEC63):c.*432G>T rs970506593
NM_007214.5(SEC63):c.*577C>T rs761474758
NM_007214.5(SEC63):c.-148T>G rs1770753156
NM_007214.5(SEC63):c.1023C>A (p.Cys341Ter) rs2114446923
NM_007214.5(SEC63):c.105G>A (p.Trp35Ter) rs1011931149
NM_007214.5(SEC63):c.1094dup (p.Asn365fs)
NM_007214.5(SEC63):c.1118_1126del (p.Ala373_Gln375del) rs2114443516
NM_007214.5(SEC63):c.1124A>C (p.Gln375Pro) rs1787041288
NM_007214.5(SEC63):c.1124A>G (p.Gln375Arg) rs1787041288
NM_007214.5(SEC63):c.1188_1191dup (p.Val398fs) rs1787039042
NM_007214.5(SEC63):c.1210-18dup rs370485907
NM_007214.5(SEC63):c.1210-7del rs370485907
NM_007214.5(SEC63):c.1249G>T (p.Glu417Ter) rs1787002281
NM_007214.5(SEC63):c.125-13del rs565329945
NM_007214.5(SEC63):c.133C>T (p.Arg45Ter) rs2114487759
NM_007214.5(SEC63):c.1434_1435del (p.Met479fs) rs2114434218
NM_007214.5(SEC63):c.1440+1G>A
NM_007214.5(SEC63):c.1441-10C>T rs780555443
NM_007214.5(SEC63):c.1577C>A (p.Ser526Ter) rs779331877
NM_007214.5(SEC63):c.1605dup (p.Pro536fs) rs752868449
NM_007214.5(SEC63):c.1625_1626insTAC (p.Pro542_Gln543insThr) rs779139584
NM_007214.5(SEC63):c.1629G>C (p.Gln543His) rs2114426916
NM_007214.5(SEC63):c.1675-15G>C rs886060954
NM_007214.5(SEC63):c.1697AAG[2] (p.Glu568del) rs752018806
NM_007214.5(SEC63):c.1810A>T (p.Lys604Ter) rs2114406531
NM_007214.5(SEC63):c.1817_1821del (p.Asn606fs) rs2114406508
NM_007214.5(SEC63):c.1864C>T (p.Arg622Ter) rs2114403750
NM_007214.5(SEC63):c.1895C>A (p.Ser632Ter) rs768615942
NM_007214.5(SEC63):c.1936-11_1936-9del rs749125299
NM_007214.5(SEC63):c.1936-27_1936-25dup rs749125299
NM_007214.5(SEC63):c.1936-27_1936-26dup rs749125299
NM_007214.5(SEC63):c.1936-2A>T
NM_007214.5(SEC63):c.1936-4_1936-3insT rs773608064
NM_007214.5(SEC63):c.1936-4_1936-3insTT rs773608064
NM_007214.5(SEC63):c.1936-4_1936-3insTTT rs773608064
NM_007214.5(SEC63):c.1936-7_1936-6dup rs766716921
NM_007214.5(SEC63):c.1936-7dup rs766716921
NM_007214.5(SEC63):c.1942C>T (p.Gln648Ter) rs773300876
NM_007214.5(SEC63):c.2026A>G (p.Thr676Ala) rs755716600
NM_007214.5(SEC63):c.220del (p.Thr73_Val74insTer) rs869312978
NM_007214.5(SEC63):c.225-10T>A rs886060958
NM_007214.5(SEC63):c.286dup (p.Thr96fs) rs1787640678
NM_007214.5(SEC63):c.340-10T>C rs532887617
NM_007214.5(SEC63):c.340-11T>C rs77730234
NM_007214.5(SEC63):c.340-12G>C rs2064201
NM_007214.5(SEC63):c.340-12_340-10del rs200904488
NM_007214.5(SEC63):c.340-12_340-11del rs139413431
NM_007214.5(SEC63):c.340-12_340-7delinsCCCC rs1554237221
NM_007214.5(SEC63):c.340-12_340-8del rs747514864
NM_007214.5(SEC63):c.340-12dup rs886060957
NM_007214.5(SEC63):c.340-15_340-13del rs150022935
NM_007214.5(SEC63):c.340-6_340-4dup rs142388422
NM_007214.5(SEC63):c.340-6_340-5dup rs142388422
NM_007214.5(SEC63):c.340-8_340-7del rs66526324
NM_007214.5(SEC63):c.340-9_340-7del rs66526324
NM_007214.5(SEC63):c.359T>C (p.Ile120Thr) rs2114476499
NM_007214.5(SEC63):c.359_366del (p.Ile120fs) rs2114476485
NM_007214.5(SEC63):c.422del (p.Met141fs) rs2114476431
NM_007214.5(SEC63):c.442_443insA (p.Ala148fs) rs886041027
NM_007214.5(SEC63):c.502G>C (p.Asp168His) rs2114461992
NM_007214.5(SEC63):c.514+1G>A rs1554236269
NM_007214.5(SEC63):c.622G>C (p.Val208Leu) rs2114458613
NM_007214.5(SEC63):c.636G>A (p.Trp212Ter) rs2114454119
NM_007214.5(SEC63):c.646A>G (p.Ile216Val) rs2114454091
NM_007214.5(SEC63):c.693_694dup (p.Thr232fs) rs2114453997
NM_007214.5(SEC63):c.715C>T (p.Arg239Ter) rs755795110
NM_007214.5(SEC63):c.733+1G>A rs886041028
NM_007214.5(SEC63):c.882C>T (p.Thr294=) rs746631731
NM_007214.5(SEC63):c.958G>T (p.Glu320Ter) rs749842172
NM_007214.5(SEC63):c.961+14C>T rs143606782
NM_007214.5(SEC63):c.964del (p.Gln322fs) rs2114447040
NM_007214.5(SEC63):c.979A>G (p.Lys327Glu) rs559390998

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