ClinVar Miner

List of variants in gene FERMT1 studied for Kindler syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 190
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HGVS dbSNP gnomAD frequency
NM_017671.5(FERMT1):c.*1777dup rs397756084 1.00000
NM_017671.4(FERMT1):c.-666G>A rs2295433 0.70890
NM_017671.5(FERMT1):c.1594-28A>G rs2232077 0.69211
NM_017671.5(FERMT1):c.-18-11T>G rs2273423 0.60441
NM_017671.5(FERMT1):c.114T>C (p.His38=) rs10373 0.51823
NM_017671.5(FERMT1):c.1577G>A (p.Arg526Lys) rs2232074 0.41183
NM_017671.5(FERMT1):c.1575A>G (p.Lys525=) rs2232073 0.41177
NM_017671.5(FERMT1):c.152-4G>A rs2295435 0.39838
NM_017671.5(FERMT1):c.1695T>C (p.Phe565=) rs753927 0.36989
NM_017671.5(FERMT1):c.-105C>G rs6139922 0.29734
NM_017671.5(FERMT1):c.*2069T>C rs1059396 0.27473
NM_017671.5(FERMT1):c.*1464C>T rs1059391 0.23405
NM_017671.5(FERMT1):c.*2124C>A rs60522800 0.22783
NM_017671.5(FERMT1):c.*2058C>T rs12945 0.22416
NM_017671.5(FERMT1):c.1674G>A (p.Ala558=) rs2232079 0.14462
NM_017671.5(FERMT1):c.*1155T>C rs6139909 0.14139
NM_017671.5(FERMT1):c.211C>T (p.Leu71=) rs1056141 0.10325
NM_017671.5(FERMT1):c.479T>C (p.Ile160Thr) rs16991866 0.09972
NM_017671.5(FERMT1):c.*902A>G rs6053878 0.09221
NM_017671.5(FERMT1):c.532+8T>C rs41308641 0.08888
NM_017671.5(FERMT1):c.763C>T (p.Arg255Cys) rs62200482 0.06354
NM_017671.4(FERMT1):c.-366C>G rs2281533 0.05984
NM_017671.5(FERMT1):c.1264+14A>G rs111975159 0.05267
NM_017671.5(FERMT1):c.1153C>T (p.Leu385=) rs35413391 0.05264
NM_017671.4(FERMT1):c.-301C>T rs116782539 0.04435
NM_017671.5(FERMT1):c.*2016T>A rs6117066 0.04406
NM_017671.5(FERMT1):c.234C>T (p.Asp78=) rs57272794 0.03636
NM_017671.5(FERMT1):c.722T>C (p.Val241Ala) rs55666319 0.03439
NM_017671.5(FERMT1):c.-28T>C rs7273551 0.02930
NM_017671.5(FERMT1):c.*193C>T rs16991740 0.02771
NM_017671.5(FERMT1):c.*194G>A rs114990723 0.01786
NM_017671.5(FERMT1):c.*72G>T rs2232084 0.01663
NM_017671.5(FERMT1):c.*2124del rs778361332 0.01322
NM_017671.4(FERMT1):c.-655C>T rs188963072 0.01032
NM_017671.5(FERMT1):c.1884C>T (p.Asn628=) rs2232083 0.00821
NM_017671.5(FERMT1):c.*1195A>G rs111645039 0.00763
NM_017671.5(FERMT1):c.*1386A>T rs144516379 0.00742
NM_017671.5(FERMT1):c.*1458C>T rs149665640 0.00733
NM_017671.5(FERMT1):c.1416G>A (p.Ser472=) rs148992845 0.00616
NM_017671.5(FERMT1):c.467A>G (p.Asn156Ser) rs138019177 0.00558
NM_017671.5(FERMT1):c.1861-8T>C rs2232082 0.00523
NM_017671.5(FERMT1):c.1600G>A (p.Ala534Thr) rs2232078 0.00503
NM_017671.5(FERMT1):c.51C>T (p.Arg17=) rs147105196 0.00502
NM_017671.5(FERMT1):c.*1358T>G rs113096626 0.00399
NM_017671.4(FERMT1):c.-609G>A rs184246100 0.00349
NM_017671.4(FERMT1):c.-606G>C rs192668028 0.00329
NM_017671.5(FERMT1):c.-136C>T rs112748672 0.00317
NM_017671.5(FERMT1):c.*1076C>T rs41282956 0.00311
NM_017671.5(FERMT1):c.*298G>T rs115761930 0.00294
NM_017671.4(FERMT1):c.-354G>C rs113638444 0.00274
NM_017671.4(FERMT1):c.-456C>A rs80350329 0.00220
NM_017671.5(FERMT1):c.*266A>C rs144550350 0.00191
NM_017671.5(FERMT1):c.606_608del (p.Met203del) rs150175364 0.00178
NM_017671.5(FERMT1):c.*1885G>A rs146142837 0.00159
NM_017671.5(FERMT1):c.1014C>T (p.Ser338=) rs138986656 0.00159
NM_017671.4(FERMT1):c.-343C>T rs552750238 0.00151
NM_017671.5(FERMT1):c.1383C>T (p.Tyr461=) rs142328166 0.00150
NM_017671.5(FERMT1):c.*1299C>T rs557517529 0.00127
NM_017671.5(FERMT1):c.747-12G>A rs138474338 0.00125
NM_017671.5(FERMT1):c.*638C>T rs183993931 0.00106
NM_017671.5(FERMT1):c.*1338T>G rs541027450 0.00087
NM_017671.5(FERMT1):c.*697G>A rs192292204 0.00082
NM_017671.5(FERMT1):c.*1531G>A rs185563337 0.00080
NM_017671.5(FERMT1):c.1627G>A (p.Val543Met) rs76933768 0.00061
NM_017671.4(FERMT1):c.-588C>T rs572613950 0.00056
NM_017671.5(FERMT1):c.*1035C>T rs578179571 0.00056
NM_017671.5(FERMT1):c.*59A>G rs191481526 0.00053
NM_017671.5(FERMT1):c.*2294T>G rs560038077 0.00045
NM_017671.5(FERMT1):c.*438C>T rs576410071 0.00045
NM_017671.5(FERMT1):c.*1004G>A rs147620065 0.00029
NM_017671.5(FERMT1):c.1384G>A (p.Ala462Thr) rs145202913 0.00029
NM_017671.5(FERMT1):c.*1417T>C rs567830651 0.00026
NM_017671.5(FERMT1):c.293G>A (p.Arg98His) rs137862671 0.00026
NM_017671.5(FERMT1):c.*932C>T rs781104279 0.00021
NM_017671.5(FERMT1):c.863G>A (p.Arg288Gln) rs202037230 0.00020
NM_017671.5(FERMT1):c.1594-6G>A rs6053893 0.00019
NM_017671.5(FERMT1):c.*960G>A rs770860248 0.00016
NM_017671.5(FERMT1):c.695C>T (p.Ala232Val) rs147864238 0.00016
NM_017671.5(FERMT1):c.*1365C>A rs550060762 0.00011
NM_017671.5(FERMT1):c.*1472G>A rs41282954 0.00011
NM_017671.5(FERMT1):c.978G>A (p.Ser326=) rs201694674 0.00011
NM_017671.5(FERMT1):c.*207C>G rs755160970 0.00010
NM_017671.5(FERMT1):c.64A>G (p.Asn22Asp) rs201029402 0.00010
NM_017671.5(FERMT1):c.*1774G>A rs577291407 0.00008
NM_017671.4(FERMT1):c.-777C>T rs895620393 0.00007
NM_017671.5(FERMT1):c.1415C>T (p.Ser472Leu) rs150472152 0.00006
NM_017671.5(FERMT1):c.1599C>T (p.Ala533=) rs774007627 0.00006
NM_017671.5(FERMT1):c.279G>A (p.Gln93=) rs150528781 0.00006
NM_017671.5(FERMT1):c.811C>T (p.Arg271Ter) rs121918293 0.00006
NM_017671.4(FERMT1):c.-692A>G rs772114096 0.00005
NM_017671.5(FERMT1):c.910G>T (p.Glu304Ter) rs146180696 0.00005
NM_017671.5(FERMT1):c.*305C>T rs754192569 0.00004
NM_017671.5(FERMT1):c.*730C>T rs370906888 0.00004
NM_017671.5(FERMT1):c.1795A>C (p.Ile599Leu) rs776020009 0.00004
NM_017671.5(FERMT1):c.328C>T (p.Arg110Ter) rs765716291 0.00004
NM_017671.5(FERMT1):c.*1375G>A rs886056895 0.00003
NM_017671.5(FERMT1):c.*450A>G rs1009430299 0.00003
NM_017671.5(FERMT1):c.1115T>G (p.Leu372Arg) rs1294299308 0.00003
NM_017671.5(FERMT1):c.1555G>C (p.Val519Leu) rs371490137 0.00003
NM_017671.5(FERMT1):c.1944C>T (p.Gly648=) rs570732725 0.00003
NM_017671.5(FERMT1):c.533-14C>T rs749711628 0.00003
NM_017671.5(FERMT1):c.*42A>G rs766971644 0.00002
NM_017671.5(FERMT1):c.1648G>A (p.Glu550Lys) rs755090824 0.00002
NM_017671.5(FERMT1):c.1718+2T>C rs760256639 0.00002
NM_017671.5(FERMT1):c.1993G>A (p.Asp665Asn) rs773618744 0.00002
NM_017671.5(FERMT1):c.713G>A (p.Arg238Gln) rs368612173 0.00002
NM_017671.5(FERMT1):c.780A>G (p.Gln260=) rs754424986 0.00002
NM_017671.5(FERMT1):c.*2068A>G rs886056894 0.00001
NM_017671.5(FERMT1):c.*2073A>T rs867781973 0.00001
NM_017671.5(FERMT1):c.*2204T>C rs369543395 0.00001
NM_017671.5(FERMT1):c.*251C>G rs368493929 0.00001
NM_017671.5(FERMT1):c.*436A>G rs1404070314 0.00001
NM_017671.5(FERMT1):c.*764G>A rs1424957637 0.00001
NM_017671.5(FERMT1):c.*896G>C rs886056897 0.00001
NM_017671.5(FERMT1):c.*908A>G rs1981817098 0.00001
NM_017671.5(FERMT1):c.-109G>T rs1007015742 0.00001
NM_017671.5(FERMT1):c.1074A>G (p.Lys358=) rs758819322 0.00001
NM_017671.5(FERMT1):c.1307T>C (p.Phe436Ser) rs200647657 0.00001
NM_017671.5(FERMT1):c.1366G>A (p.Asp456Asn) rs1237569168 0.00001
NM_017671.5(FERMT1):c.1992C>T (p.Leu664=) rs184046854 0.00001
NM_017671.5(FERMT1):c.240T>C (p.Tyr80=) rs550863008 0.00001
NM_017671.5(FERMT1):c.52G>A (p.Val18Ile) rs780463226 0.00001
NM_017671.5(FERMT1):c.834C>T (p.Phe278=) rs775613961 0.00001
NM_017671.5(FERMT1):c.862C>T (p.Arg288Ter) rs121918294 0.00001
NM_017671.4(FERMT1):c.-448C>A rs922669115
NM_017671.4(FERMT1):c.-514T>C rs73604924
NM_017671.4(FERMT1):c.-514T>G rs73604924
NM_017671.4(FERMT1):c.-644G>C rs886056902
NM_017671.4(FERMT1):c.-646G>C rs2295432
NM_017671.4(FERMT1):c.-668C>A rs1983344608
NM_017671.4(FERMT1):c.-710G>T rs886056903
NM_017671.4(FERMT1):c.-800C>A rs1346761552
NM_017671.4:c.676insC
NM_017671.5(FERMT1):c.*1058T>G rs543610282
NM_017671.5(FERMT1):c.*1137T>A rs1981810492
NM_017671.5(FERMT1):c.*174T>A rs565391841
NM_017671.5(FERMT1):c.*1843C>A rs1011868040
NM_017671.5(FERMT1):c.*205C>G rs1981842140
NM_017671.5(FERMT1):c.*2108del rs886056893
NM_017671.5(FERMT1):c.*2118A>G rs529395851
NM_017671.5(FERMT1):c.*2123dup rs11405989
NM_017671.5(FERMT1):c.*2124_*2125del rs886056892
NM_017671.5(FERMT1):c.*2127dup rs139990090
NM_017671.5(FERMT1):c.*2221A>G rs1981768610
NM_017671.5(FERMT1):c.*2227C>T rs527535068
NM_017671.5(FERMT1):c.*2250C>T rs886056891
NM_017671.5(FERMT1):c.*951A>G rs886056896
NM_017671.5(FERMT1):c.-116A>G rs886056900
NM_017671.5(FERMT1):c.-154GCC[2] rs536347157
NM_017671.5(FERMT1):c.-20A>G rs869312722
NM_017671.5(FERMT1):c.-93C>G rs557408247
NM_017671.5(FERMT1):c.1045A>C (p.Asn349His) rs886056899
NM_017671.5(FERMT1):c.1139+2T>C rs869312727
NM_017671.5(FERMT1):c.1176T>G (p.Tyr392Ter) rs869312730
NM_017671.5(FERMT1):c.1198T>C (p.Ser400Pro) rs869312718
NM_017671.5(FERMT1):c.1264+1G>A rs1982268239
NM_017671.5(FERMT1):c.1264+363_1372-602del
NM_017671.5(FERMT1):c.1371+4A>G rs1064793979
NM_017671.5(FERMT1):c.1371+7A>G rs1982226503
NM_017671.5(FERMT1):c.1378C>T (p.Gln460Ter) rs1982142302
NM_017671.5(FERMT1):c.1383C>A (p.Tyr461Ter) rs142328166
NM_017671.5(FERMT1):c.1575_1577delinsGAA (p.Arg526Lys) rs386812146
NM_017671.5(FERMT1):c.1637T>G (p.Met546Arg) rs886056898
NM_017671.5(FERMT1):c.1714_1715insA (p.Val572fs) rs1568654138
NM_017671.5(FERMT1):c.1848G>A (p.Trp616Ter) rs869312731
NM_017671.5(FERMT1):c.1861-1G>A rs779915885
NM_017671.5(FERMT1):c.1867_1869del (p.Ile623del) rs869312721
NM_017671.5(FERMT1):c.27del (p.Phe9fs) rs1983207985
NM_017671.5(FERMT1):c.341C>G (p.Ser114Ter) rs1983080839
NM_017671.5(FERMT1):c.35G>A (p.Trp12Ter)
NM_017671.5(FERMT1):c.373del (p.Cys125fs) rs869312723
NM_017671.5(FERMT1):c.385+2T>C rs1411462678
NM_017671.5(FERMT1):c.456dup (p.Asp153fs) rs2123144933
NM_017671.5(FERMT1):c.464del (p.Asn155fs) rs1568664492
NM_017671.5(FERMT1):c.524G>C (p.Gly175Ala) rs755393121
NM_017671.5(FERMT1):c.550dup (p.Ser184fs) rs869312724
NM_017671.5(FERMT1):c.555A>G (p.Lys185=) rs1982917603
NM_017671.5(FERMT1):c.564C>A (p.Thr188=) rs1982917264
NM_017671.5(FERMT1):c.676C>T (p.Gln226Ter) rs767540244
NM_017671.5(FERMT1):c.676dup (p.Gln226fs) rs748240859
NM_017671.5(FERMT1):c.787C>T (p.Gln263Ter) rs121918292
NM_017671.5(FERMT1):c.811C>G (p.Arg271Gly) rs121918293
NM_017671.5(FERMT1):c.850-272_1139+53del
NM_017671.5(FERMT1):c.889A>G (p.Arg297Gly) rs779612399
NM_017671.5(FERMT1):c.957+1G>A rs869312725
NM_017671.5(FERMT1):c.994C>T (p.Gln332Ter) rs2123118335
NM_017671.5(FERMT1):c.994_995del (p.Gln332fs) rs866141540
NM_017671.5:c.892_893insALU
g.6109607_6112272del
g.6116239_6120157del

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