ClinVar Miner

List of variants in gene FERMT1 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 231
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HGVS dbSNP gnomAD frequency
NM_017671.5(FERMT1):c.*2124C>A rs60522800 0.22783
NM_017671.5(FERMT1):c.*2124del rs778361332 0.01322
NM_017671.5(FERMT1):c.1600G>A (p.Ala534Thr) rs2232078 0.00503
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_017671.4(FERMT1):c.-354G>C rs113638444 0.00274
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.*1299C>T rs557517529 0.00127
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.*1035C>T rs578179571 0.00056
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.323G>C (p.Arg108Thr) rs201129798 0.00022
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.773T>C (p.Met258Thr) rs142987152 0.00016
NM_017671.5(FERMT1):c.*1472G>A rs41282954 0.00011
NM_017671.5(FERMT1):c.860T>C (p.Val287Ala) rs377633165 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.1270G>A (p.Glu424Lys) rs747141428 0.00009
NM_017671.5(FERMT1):c.1562C>T (p.Pro521Leu) rs181604705 0.00009
NM_017671.5(FERMT1):c.299G>A (p.Arg100His) rs146184803 0.00009
NM_017671.5(FERMT1):c.*1774G>A rs577291407 0.00008
NM_017671.5(FERMT1):c.1561C>A (p.Pro521Thr) rs143843663 0.00008
NM_017671.5(FERMT1):c.371T>C (p.Ile124Thr) rs760691296 0.00008
NM_017671.5(FERMT1):c.50G>A (p.Arg17His) rs369858160 0.00008
NM_017671.4(FERMT1):c.-777C>T rs895620393 0.00007
NM_017671.5(FERMT1):c.1353G>A (p.Met451Ile) rs184833211 0.00006
NM_017671.5(FERMT1):c.1415C>T (p.Ser472Leu) rs150472152 0.00006
NM_017671.5(FERMT1):c.1525G>A (p.Glu509Lys) rs151300234 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.49C>T (p.Arg17Cys) rs367672925 0.00006
NM_017671.4(FERMT1):c.-692A>G rs772114096 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.1034C>T (p.Ala345Val) rs150581071 0.00004
NM_017671.5(FERMT1):c.1076C>T (p.Ala359Val) rs372599720 0.00004
NM_017671.5(FERMT1):c.1429A>G (p.Met477Val) rs750799920 0.00004
NM_017671.5(FERMT1):c.1596G>A (p.Leu532=) rs202039461 0.00004
NM_017671.5(FERMT1):c.1604G>A (p.Arg535Gln) rs373229817 0.00004
NM_017671.5(FERMT1):c.1660C>T (p.Arg554Trp) rs149523994 0.00004
NM_017671.5(FERMT1):c.1792G>A (p.Gly598Arg) rs142825013 0.00004
NM_017671.5(FERMT1):c.1795A>C (p.Ile599Leu) rs776020009 0.00004
NM_017671.5(FERMT1):c.292C>T (p.Arg98Cys) rs141690919 0.00004
NM_017671.5(FERMT1):c.441G>T (p.Lys147Asn) rs377153001 0.00004
NM_017671.5(FERMT1):c.671C>G (p.Pro224Arg) rs752983617 0.00004
NM_017671.5(FERMT1):c.747-3T>C rs199725731 0.00004
NM_017671.5(FERMT1):c.764G>A (p.Arg255His) rs777736000 0.00004
NM_017671.5(FERMT1):c.7T>C (p.Ser3Pro) rs758985794 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.1225C>A (p.Leu409Ile) rs768269556 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.422C>T (p.Pro141Leu) rs369542572 0.00003
NM_017671.5(FERMT1):c.533-14C>T rs749711628 0.00003
NM_017671.5(FERMT1):c.831C>G (p.Phe277Leu) rs768878539 0.00003
NM_017671.5(FERMT1):c.*42A>G rs766971644 0.00002
NM_017671.5(FERMT1):c.1564C>T (p.Arg522Trp) rs139184940 0.00002
NM_017671.5(FERMT1):c.1603C>T (p.Arg535Trp) rs143876620 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.1982A>G (p.Asn661Ser) rs1357570688 0.00002
NM_017671.5(FERMT1):c.1993G>A (p.Asp665Asn) rs773618744 0.00002
NM_017671.5(FERMT1):c.305C>T (p.Pro102Leu) rs777516456 0.00002
NM_017671.5(FERMT1):c.569T>C (p.Ile190Thr) rs751558324 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.835G>A (p.Asp279Asn) rs150248382 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.*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.1008C>T (p.Gly336=) rs568177753 0.00001
NM_017671.5(FERMT1):c.1015G>A (p.Glu339Lys) rs775535627 0.00001
NM_017671.5(FERMT1):c.1037C>T (p.Ala346Val) rs148022730 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.1388A>G (p.Gln463Arg) rs1240269135 0.00001
NM_017671.5(FERMT1):c.1397C>T (p.Ala466Val) rs777735943 0.00001
NM_017671.5(FERMT1):c.1593+4C>T rs765508270 0.00001
NM_017671.5(FERMT1):c.1661G>A (p.Arg554Gln) rs763811237 0.00001
NM_017671.5(FERMT1):c.166T>A (p.Trp56Arg) rs756108637 0.00001
NM_017671.5(FERMT1):c.1939A>C (p.Ile647Leu) rs1287656788 0.00001
NM_017671.5(FERMT1):c.1967G>A (p.Arg656His) rs201899720 0.00001
NM_017671.5(FERMT1):c.1992C>T (p.Leu664=) rs184046854 0.00001
NM_017671.5(FERMT1):c.22A>G (p.Thr8Ala) rs776284106 0.00001
NM_017671.5(FERMT1):c.240T>C (p.Tyr80=) rs550863008 0.00001
NM_017671.5(FERMT1):c.288G>A (p.Met96Ile) rs184921922 0.00001
NM_017671.5(FERMT1):c.52G>A (p.Val18Ile) rs780463226 0.00001
NM_017671.5(FERMT1):c.620G>A (p.Ser207Asn) rs766284783 0.00001
NM_017671.5(FERMT1):c.834C>T (p.Phe278=) rs775613961 0.00001
NM_017671.5(FERMT1):c.85G>A (p.Val29Ile) rs759081971 0.00001
NM_017671.5(FERMT1):c.957+6G>A rs1035607824 0.00001
NM_017671.4(FERMT1):c.-448C>A rs922669115
NM_017671.4(FERMT1):c.-514T>G rs73604924
NM_017671.4(FERMT1):c.-644G>C rs886056902
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_017671.5(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.*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.-93C>G rs557408247
NM_017671.5(FERMT1):c.1037C>A (p.Ala346Glu)
NM_017671.5(FERMT1):c.1045A>C (p.Asn349His) rs886056899
NM_017671.5(FERMT1):c.1135T>C (p.Phe379Leu)
NM_017671.5(FERMT1):c.1144A>C (p.Lys382Gln)
NM_017671.5(FERMT1):c.1154T>C (p.Leu385Pro) rs1175057823
NM_017671.5(FERMT1):c.1183A>T (p.Ile395Phe) rs766950162
NM_017671.5(FERMT1):c.1185C>G (p.Ile395Met)
NM_017671.5(FERMT1):c.1187T>G (p.Phe396Cys)
NM_017671.5(FERMT1):c.1262G>C (p.Arg421Thr) rs781688885
NM_017671.5(FERMT1):c.1282G>A (p.Asp428Asn)
NM_017671.5(FERMT1):c.1290T>A (p.Asn430Lys)
NM_017671.5(FERMT1):c.1371+7A>G rs1982226503
NM_017671.5(FERMT1):c.1372-3C>A rs1251692584
NM_017671.5(FERMT1):c.138A>G (p.Leu46=)
NM_017671.5(FERMT1):c.1403G>C (p.Cys468Ser)
NM_017671.5(FERMT1):c.140T>C (p.Val47Ala) rs1568667079
NM_017671.5(FERMT1):c.1456G>A (p.Val486Ile)
NM_017671.5(FERMT1):c.1558T>A (p.Ser520Thr)
NM_017671.5(FERMT1):c.1565G>A (p.Arg522Gln)
NM_017671.5(FERMT1):c.1575_1577delinsGAA (p.Arg526Lys) rs386812146
NM_017671.5(FERMT1):c.1591C>G (p.Gln531Glu) rs1354078093
NM_017671.5(FERMT1):c.1594-19G>A rs2123098539
NM_017671.5(FERMT1):c.1594-3C>T
NM_017671.5(FERMT1):c.1598C>T (p.Ala533Val)
NM_017671.5(FERMT1):c.1612G>A (p.Glu538Lys)
NM_017671.5(FERMT1):c.1616C>T (p.Ala539Val)
NM_017671.5(FERMT1):c.1637T>G (p.Met546Arg) rs886056898
NM_017671.5(FERMT1):c.1640C>T (p.Pro547Leu)
NM_017671.5(FERMT1):c.1700T>C (p.Leu567Pro)
NM_017671.5(FERMT1):c.1767G>T (p.Arg589Ser)
NM_017671.5(FERMT1):c.1790C>T (p.Thr597Ile)
NM_017671.5(FERMT1):c.1819A>G (p.Thr607Ala)
NM_017671.5(FERMT1):c.1826T>C (p.Ile609Thr)
NM_017671.5(FERMT1):c.1856G>A (p.Arg619Gln)
NM_017671.5(FERMT1):c.1860+5A>G
NM_017671.5(FERMT1):c.1863G>A (p.Val621=) rs1981856948
NM_017671.5(FERMT1):c.1864G>T (p.Val622Phe)
NM_017671.5(FERMT1):c.1885G>A (p.Val629Ile)
NM_017671.5(FERMT1):c.1907T>C (p.Leu636Pro) rs1981855850
NM_017671.5(FERMT1):c.1927G>A (p.Val643Met)
NM_017671.5(FERMT1):c.1930C>A (p.His644Asn)
NM_017671.5(FERMT1):c.1940T>C (p.Ile647Thr)
NM_017671.5(FERMT1):c.1945G>A (p.Gly649Ser)
NM_017671.5(FERMT1):c.1952T>A (p.Ile651Asn)
NM_017671.5(FERMT1):c.1953T>G (p.Ile651Met)
NM_017671.5(FERMT1):c.1990C>T (p.Leu664Phe)
NM_017671.5(FERMT1):c.2012A>C (p.Lys671Thr)
NM_017671.5(FERMT1):c.203G>T (p.Cys68Phe) rs2123150728
NM_017671.5(FERMT1):c.217A>T (p.Thr73Ser)
NM_017671.5(FERMT1):c.226A>G (p.Thr76Ala)
NM_017671.5(FERMT1):c.227C>T (p.Thr76Ile) rs202213120
NM_017671.5(FERMT1):c.255T>A (p.Asp85Glu) rs368160547
NM_017671.5(FERMT1):c.298C>T (p.Arg100Cys)
NM_017671.5(FERMT1):c.329G>A (p.Arg110Gln)
NM_017671.5(FERMT1):c.37G>A (p.Glu13Lys)
NM_017671.5(FERMT1):c.387T>A (p.Asn129Lys)
NM_017671.5(FERMT1):c.41T>G (p.Leu14Arg) rs999728597
NM_017671.5(FERMT1):c.433T>G (p.Tyr145Asp) rs1230840491
NM_017671.5(FERMT1):c.441GAA[3] (p.Lys152del)
NM_017671.5(FERMT1):c.443A>G (p.Lys148Arg)
NM_017671.5(FERMT1):c.491T>C (p.Ile164Thr)
NM_017671.5(FERMT1):c.524G>A (p.Gly175Asp) rs755393121
NM_017671.5(FERMT1):c.524G>C (p.Gly175Ala) rs755393121
NM_017671.5(FERMT1):c.526T>C (p.Ser176Pro)
NM_017671.5(FERMT1):c.541G>T (p.Gly181Cys)
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.607A>G (p.Met203Val)
NM_017671.5(FERMT1):c.60T>G (p.His20Gln)
NM_017671.5(FERMT1):c.619A>C (p.Ser207Arg) rs1982915153
NM_017671.5(FERMT1):c.640C>G (p.Gln214Glu) rs775064265
NM_017671.5(FERMT1):c.658G>A (p.Ala220Thr)
NM_017671.5(FERMT1):c.669A>T (p.Gln223His)
NM_017671.5(FERMT1):c.671C>A (p.Pro224His)
NM_017671.5(FERMT1):c.676C>A (p.Gln226Lys)
NM_017671.5(FERMT1):c.700A>G (p.Met234Val) rs1555800908
NM_017671.5(FERMT1):c.712C>G (p.Arg238Gly)
NM_017671.5(FERMT1):c.741T>G (p.Asn247Lys)
NM_017671.5(FERMT1):c.784A>G (p.Ile262Val) rs753458351
NM_017671.5(FERMT1):c.788A>G (p.Gln263Arg)
NM_017671.5(FERMT1):c.811C>G (p.Arg271Gly) rs121918293
NM_017671.5(FERMT1):c.812G>A (p.Arg271Gln)
NM_017671.5(FERMT1):c.815T>C (p.Phe272Ser)
NM_017671.5(FERMT1):c.829T>C (p.Phe277Leu)
NM_017671.5(FERMT1):c.891G>C (p.Arg297Ser)
NM_017671.5(FERMT1):c.914T>C (p.Ile305Thr)
NM_017671.5(FERMT1):c.919T>C (p.Cys307Arg) rs764567711
NM_017671.5(FERMT1):c.919T>G (p.Cys307Gly) rs764567711
NM_017671.5(FERMT1):c.94A>G (p.Arg32Gly)
NM_017671.5(FERMT1):c.957+3A>G
NM_017671.5(FERMT1):c.958-3T>C
NM_017671.5(FERMT1):c.958T>C (p.Tyr320His) rs1473910227
NM_017671.5(FERMT1):c.977C>T (p.Ser326Leu)

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