ClinVar Miner

List of variants in gene FERMT1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 323
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HGVS dbSNP gnomAD frequency
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.533-17A>C rs11087717 0.14842
NM_017671.5(FERMT1):c.1674G>A (p.Ala558=) rs2232079 0.14462
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.532+8T>C rs41308641 0.08888
NM_017671.5(FERMT1):c.763C>T (p.Arg255Cys) rs62200482 0.06354
NM_017671.5(FERMT1):c.151+20C>T rs78449803 0.05418
NM_017671.5(FERMT1):c.1264+14A>G rs111975159 0.05267
NM_017671.5(FERMT1):c.1153C>T (p.Leu385=) rs35413391 0.05264
NM_017671.5(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.1884C>T (p.Asn628=) rs2232083 0.00821
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.1139+13T>C rs143153145 0.00228
NM_017671.5(FERMT1):c.606_608del (p.Met203del) rs150175364 0.00178
NM_017671.5(FERMT1):c.1014C>T (p.Ser338=) rs138986656 0.00159
NM_017671.5(FERMT1):c.1383C>T (p.Tyr461=) rs142328166 0.00150
NM_017671.5(FERMT1):c.747-12G>A rs138474338 0.00125
NM_017671.5(FERMT1):c.1627G>A (p.Val543Met) rs76933768 0.00061
NM_017671.5(FERMT1):c.637G>A (p.Glu213Lys) rs149092699 0.00055
NM_017671.5(FERMT1):c.756C>T (p.Asp252=) rs142628403 0.00044
NM_017671.5(FERMT1):c.306G>A (p.Pro102=) rs141850118 0.00037
NM_017671.5(FERMT1):c.1384G>A (p.Ala462Thr) rs145202913 0.00029
NM_017671.5(FERMT1):c.882G>A (p.Glu294=) rs149893089 0.00027
NM_017671.5(FERMT1):c.293G>A (p.Arg98His) rs137862671 0.00026
NM_017671.5(FERMT1):c.1077G>A (p.Ala359=) rs34569233 0.00023
NM_017671.5(FERMT1):c.323G>C (p.Arg108Thr) rs201129798 0.00022
NM_017671.5(FERMT1):c.957+10C>A rs368444538 0.00022
NM_017671.5(FERMT1):c.2019C>T (p.Thr673=) rs368745513 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.1791C>T (p.Thr597=) rs768944793 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.1762A>G (p.Asn588Asp) rs185314931 0.00014
NM_017671.5(FERMT1):c.888C>T (p.Ala296=) rs748808480 0.00013
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.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.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_017671.5(FERMT1):c.1167C>T (p.Phe389=) rs374069028 0.00006
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_017671.5(FERMT1):c.657C>T (p.Leu219=) rs150419419 0.00006
NM_017671.5(FERMT1):c.811C>T (p.Arg271Ter) rs121918293 0.00006
NM_017671.5(FERMT1):c.898A>G (p.Ile300Val) rs780949811 0.00006
NM_017671.5(FERMT1):c.1035G>A (p.Ala345=) rs141793633 0.00005
NM_017671.5(FERMT1):c.910G>T (p.Glu304Ter) rs146180696 0.00005
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.1593+5T>C rs555063747 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.328C>T (p.Arg110Ter) rs765716291 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.746+10C>T rs374779394 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.958-18C>T rs781039429 0.00004
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.1617G>A (p.Ala539=) rs111823157 0.00003
NM_017671.5(FERMT1):c.1944C>T (p.Gly648=) rs570732725 0.00003
NM_017671.5(FERMT1):c.219C>T (p.Thr73=) rs574151559 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.958-17G>A rs752037149 0.00003
NM_017671.5(FERMT1):c.1038G>A (p.Ala346=) rs770494158 0.00002
NM_017671.5(FERMT1):c.1335C>T (p.Ala445=) rs751428620 0.00002
NM_017671.5(FERMT1):c.1372-11G>C rs762037034 0.00002
NM_017671.5(FERMT1):c.1564C>T (p.Arg522Trp) rs139184940 0.00002
NM_017671.5(FERMT1):c.1592A>G (p.Gln531Arg) rs758553172 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.39G>A (p.Glu13=) rs748600328 0.00002
NM_017671.5(FERMT1):c.459C>T (p.Asp153=) rs769642349 0.00002
NM_017671.5(FERMT1):c.569T>C (p.Ile190Thr) rs751558324 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.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.1140-16A>G rs749615948 0.00001
NM_017671.5(FERMT1):c.1265-10T>C rs1210125220 0.00001
NM_017671.5(FERMT1):c.1265-16G>C rs1279894861 0.00001
NM_017671.5(FERMT1):c.1278G>A (p.Val426=) rs146325251 0.00001
NM_017671.5(FERMT1):c.1366G>A (p.Asp456Asn) rs1237569168 0.00001
NM_017671.5(FERMT1):c.1372-8T>G rs774479044 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.1620C>T (p.His540=) rs778002718 0.00001
NM_017671.5(FERMT1):c.1647C>T (p.Val549=) rs267606039 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.1718+9A>G rs183621104 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.213G>A (p.Leu71=) rs1224521513 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.243G>A (p.Gly81=) rs764556729 0.00001
NM_017671.5(FERMT1):c.288G>A (p.Met96Ile) rs184921922 0.00001
NM_017671.5(FERMT1):c.386-20T>A rs1294304701 0.00001
NM_017671.5(FERMT1):c.423G>A (p.Pro141=) rs41308076 0.00001
NM_017671.5(FERMT1):c.438T>C (p.Phe146=) rs762090385 0.00001
NM_017671.5(FERMT1):c.495A>C (p.Leu165=) rs1198608028 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.746+11G>A rs370631532 0.00001
NM_017671.5(FERMT1):c.747-20C>G rs995062310 0.00001
NM_017671.5(FERMT1):c.834C>T (p.Phe278=) rs775613961 0.00001
NM_017671.5(FERMT1):c.84C>T (p.Asp28=) rs765106857 0.00001
NM_017671.5(FERMT1):c.85G>A (p.Val29Ile) rs759081971 0.00001
NM_017671.5(FERMT1):c.862C>T (p.Arg288Ter) rs121918294 0.00001
NM_017671.5(FERMT1):c.957+6G>A rs1035607824 0.00001
NC_000020.10:g.(?_6090925)_(6091178_?)del
NM_017671.5(FERMT1):c.1037C>A (p.Ala346Glu)
NM_017671.5(FERMT1):c.105A>G (p.Gly35=)
NM_017671.5(FERMT1):c.1077G>T (p.Ala359=)
NM_017671.5(FERMT1):c.1081_1082del (p.Ser361fs)
NM_017671.5(FERMT1):c.1089+8C>T rs755468837
NM_017671.5(FERMT1):c.1090-16_1090-13del
NM_017671.5(FERMT1):c.1090-2A>G
NM_017671.5(FERMT1):c.1090-6dup
NM_017671.5(FERMT1):c.1104T>C (p.Asp368=)
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.1209C>G (p.Tyr403Ter)
NM_017671.5(FERMT1):c.1262G>C (p.Arg421Thr) rs781688885
NM_017671.5(FERMT1):c.1264+18C>T
NM_017671.5(FERMT1):c.1264+8T>A rs2123106863
NM_017671.5(FERMT1):c.1277del (p.Val426fs) rs2123105057
NM_017671.5(FERMT1):c.1282G>A (p.Asp428Asn)
NM_017671.5(FERMT1):c.1284T>C (p.Asp428=)
NM_017671.5(FERMT1):c.1290T>A (p.Asn430Lys)
NM_017671.5(FERMT1):c.1302A>G (p.Arg434=)
NM_017671.5(FERMT1):c.1371+18_1371+19del rs769840965
NM_017671.5(FERMT1):c.1372-16C>T rs370927689
NM_017671.5(FERMT1):c.1372-3C>A rs1251692584
NM_017671.5(FERMT1):c.1372-6C>A
NM_017671.5(FERMT1):c.138A>G (p.Leu46=)
NM_017671.5(FERMT1):c.1404C>T (p.Cys468=)
NM_017671.5(FERMT1):c.1408T>C (p.Leu470=)
NM_017671.5(FERMT1):c.140T>C (p.Val47Ala) rs1568667079
NM_017671.5(FERMT1):c.144A>G (p.Glu48=)
NM_017671.5(FERMT1):c.1456G>A (p.Val486Ile)
NM_017671.5(FERMT1):c.1467C>T (p.Ile489=) rs374391922
NM_017671.5(FERMT1):c.1473A>G (p.Ser491=)
NM_017671.5(FERMT1):c.1497C>T (p.Asn499=) rs760520937
NM_017671.5(FERMT1):c.151+12T>A rs770119324
NM_017671.5(FERMT1):c.151+14G>A
NM_017671.5(FERMT1):c.151+14G>C
NM_017671.5(FERMT1):c.152-19T>C
NM_017671.5(FERMT1):c.152-20T>C
NM_017671.5(FERMT1):c.152-5T>G
NM_017671.5(FERMT1):c.1558T>A (p.Ser520Thr)
NM_017671.5(FERMT1):c.1565G>A (p.Arg522Gln)
NM_017671.5(FERMT1):c.1591C>G (p.Gln531Glu) rs1354078093
NM_017671.5(FERMT1):c.1593+15G>A
NM_017671.5(FERMT1):c.1593+7T>C
NM_017671.5(FERMT1):c.1594-11T>C
NM_017671.5(FERMT1):c.1594-14_1594-13del
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.15T>G (p.Thr5=)
NM_017671.5(FERMT1):c.1612G>A (p.Glu538Lys)
NM_017671.5(FERMT1):c.1616C>T (p.Ala539Val)
NM_017671.5(FERMT1):c.1629G>A (p.Val543=)
NM_017671.5(FERMT1):c.1640C>T (p.Pro547Leu)
NM_017671.5(FERMT1):c.1700T>C (p.Leu567Pro)
NM_017671.5(FERMT1):c.1719-1G>A rs1324272731
NM_017671.5(FERMT1):c.1719-4T>C
NM_017671.5(FERMT1):c.1743C>T (p.Asp581=)
NM_017671.5(FERMT1):c.174C>T (p.Asp58=)
NM_017671.5(FERMT1):c.1756del (p.Ser586fs)
NM_017671.5(FERMT1):c.1767G>T (p.Arg589Ser)
NM_017671.5(FERMT1):c.1790C>T (p.Thr597Ile)
NM_017671.5(FERMT1):c.1800A>G (p.Pro600=)
NM_017671.5(FERMT1):c.1809A>T (p.Thr603=)
NM_017671.5(FERMT1):c.1818C>T (p.Phe606=) rs776343825
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.1857G>A (p.Arg619=)
NM_017671.5(FERMT1):c.1860+12G>A
NM_017671.5(FERMT1):c.1860+5A>G
NM_017671.5(FERMT1):c.1861-20T>C
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.1887C>G (p.Val629=)
NM_017671.5(FERMT1):c.1905C>T (p.Cys635=)
NM_017671.5(FERMT1):c.1907T>C (p.Leu636Pro) rs1981855850
NM_017671.5(FERMT1):c.1908G>A (p.Leu636=)
NM_017671.5(FERMT1):c.1914A>G (p.Ala638=)
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.1944C>A (p.Gly648=)
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.1956C>T (p.Phe652=)
NM_017671.5(FERMT1):c.1968C>T (p.Arg656=)
NM_017671.5(FERMT1):c.1990C>T (p.Leu664Phe)
NM_017671.5(FERMT1):c.2012A>C (p.Lys671Thr)
NM_017671.5(FERMT1):c.2019C>G (p.Thr673=)
NM_017671.5(FERMT1):c.203G>T (p.Cys68Phe) rs2123150728
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.329del (p.Arg110fs)
NM_017671.5(FERMT1):c.37G>A (p.Glu13Lys)
NM_017671.5(FERMT1):c.385+12G>A rs773446800
NM_017671.5(FERMT1):c.385+1G>T
NM_017671.5(FERMT1):c.386-14dup
NM_017671.5(FERMT1):c.386-9T>C rs755234339
NM_017671.5(FERMT1):c.387T>A (p.Asn129Lys)
NM_017671.5(FERMT1):c.414G>A (p.Leu138=) rs539867893
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.465T>C (p.Asn155=)
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.532+10G>C rs780579097
NM_017671.5(FERMT1):c.532+1G>A
NM_017671.5(FERMT1):c.533-13C>T
NM_017671.5(FERMT1):c.541G>T (p.Gly181Cys)
NM_017671.5(FERMT1):c.543T>C (p.Gly181=)
NM_017671.5(FERMT1):c.546A>G (p.Leu182=)
NM_017671.5(FERMT1):c.591A>T (p.Thr197=)
NM_017671.5(FERMT1):c.606C>T (p.Thr202=)
NM_017671.5(FERMT1):c.619A>C (p.Ser207Arg) rs1982915153
NM_017671.5(FERMT1):c.636G>A (p.Thr212=) rs773713545
NM_017671.5(FERMT1):c.636G>T (p.Thr212=)
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.675C>A (p.Pro225=) rs141656399
NM_017671.5(FERMT1):c.676del (p.Gln226fs)
NM_017671.5(FERMT1):c.676dup (p.Gln226fs) rs748240859
NM_017671.5(FERMT1):c.678dup (p.Ser227fs) rs2123140877
NM_017671.5(FERMT1):c.695C>A (p.Ala232Glu)
NM_017671.5(FERMT1):c.700A>G (p.Met234Val) rs1555800908
NM_017671.5(FERMT1):c.712C>G (p.Arg238Gly)
NM_017671.5(FERMT1):c.72G>A (p.Glu24=) rs1983204513
NM_017671.5(FERMT1):c.738C>A (p.Leu246=)
NM_017671.5(FERMT1):c.741T>G (p.Asn247Lys)
NM_017671.5(FERMT1):c.746+12G>T
NM_017671.5(FERMT1):c.746+14T>A
NM_017671.5(FERMT1):c.746+15C>T
NM_017671.5(FERMT1):c.746+18T>C
NM_017671.5(FERMT1):c.747-17A>G
NM_017671.5(FERMT1):c.747-20C>T rs995062310
NM_017671.5(FERMT1):c.784A>G (p.Ile262Val) rs753458351
NM_017671.5(FERMT1):c.788A>G (p.Gln263Arg)
NM_017671.5(FERMT1):c.812G>A (p.Arg271Gln)
NM_017671.5(FERMT1):c.815T>C (p.Phe272Ser)
NM_017671.5(FERMT1):c.819A>G (p.Lys273=)
NM_017671.5(FERMT1):c.81A>G (p.Lys27=)
NM_017671.5(FERMT1):c.829T>C (p.Phe277Leu)
NM_017671.5(FERMT1):c.849+11T>A
NM_017671.5(FERMT1):c.849+17_849+21del
NM_017671.5(FERMT1):c.852T>C (p.Tyr284=) rs1982546087
NM_017671.5(FERMT1):c.891G>C (p.Arg297Ser)
NM_017671.5(FERMT1):c.894G>A (p.Trp298Ter)
NM_017671.5(FERMT1):c.914T>C (p.Ile305Thr)
NM_017671.5(FERMT1):c.918T>C (p.Asp306=)
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.927G>A (p.Glu309=)
NM_017671.5(FERMT1):c.93G>A (p.Leu31=)
NM_017671.5(FERMT1):c.94A>G (p.Arg32Gly)
NM_017671.5(FERMT1):c.957+10C>T
NM_017671.5(FERMT1):c.957+3A>G
NM_017671.5(FERMT1):c.958-3T>C
NM_017671.5(FERMT1):c.958-7A>G
NM_017671.5(FERMT1):c.958T>C (p.Tyr320His) rs1473910227
NM_017671.5(FERMT1):c.977C>T (p.Ser326Leu)
NM_017671.5(FERMT1):c.981G>A (p.Leu327=)

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