ClinVar Miner

List of variants studied for Leukocyte adhesion deficiency 3 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 504
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HGVS dbSNP gnomAD frequency
NM_031471.6(FERMT3):c.787-10C>A rs11603538 0.33347
NM_031471.6(FERMT3):c.1506C>T (p.Leu502=) rs3802933 0.17484
NM_031471.6(FERMT3):c.161-16C>G rs78038516 0.10980
NM_031471.6(FERMT3):c.1449G>A (p.Pro483=) rs3802932 0.09596
NM_031471.6(FERMT3):c.729C>T (p.Ala243=) rs17851033 0.06161
NM_031471.6(FERMT3):c.895-4C>T rs59250939 0.06034
NM_031471.6(FERMT3):c.1320G>A (p.Gln440=) rs76744324 0.01286
NM_031471.6(FERMT3):c.405C>T (p.His135=) rs78810429 0.00923
NM_031471.6(FERMT3):c.1030-12G>C rs77762249 0.00805
NM_031471.6(FERMT3):c.130G>A (p.Gly44Arg) rs149000560 0.00552
NM_031471.6(FERMT3):c.1917G>A (p.Thr639=) rs150686744 0.00399
NM_031471.6(FERMT3):c.684-5C>G rs112945490 0.00390
NM_031471.6(FERMT3):c.249C>T (p.Tyr83=) rs137865691 0.00233
NM_031471.6(FERMT3):c.159C>G (p.Ile53Met) rs142815441 0.00226
NM_031471.6(FERMT3):c.736G>A (p.Ala246Thr) rs150869428 0.00221
NM_031471.6(FERMT3):c.1404C>T (p.Ala468=) rs201501349 0.00188
NM_031471.6(FERMT3):c.1317G>A (p.Gln439=) rs72920390 0.00178
NM_031471.6(FERMT3):c.161-11G>A rs188768294 0.00142
NM_031471.6(FERMT3):c.527C>T (p.Ala176Val) rs113348354 0.00142
NM_031471.6(FERMT3):c.1523A>C (p.Gln508Pro) rs138031026 0.00137
NM_031471.6(FERMT3):c.331C>T (p.Arg111Cys) rs140328152 0.00119
NM_031471.6(FERMT3):c.1893C>T (p.Ile631=) rs142025489 0.00106
NM_031471.6(FERMT3):c.921C>T (p.Ser307=) rs78713523 0.00104
NM_031471.6(FERMT3):c.1158C>G (p.Ser386Arg) rs75295961 0.00087
NM_031471.6(FERMT3):c.607C>T (p.Pro203Ser) rs143873934 0.00086
NM_031471.6(FERMT3):c.1188G>A (p.Gln396=) rs148021416 0.00083
NM_031471.6(FERMT3):c.394+12G>A rs375841962 0.00076
NM_031471.6(FERMT3):c.332G>A (p.Arg111His) rs145419469 0.00068
NM_031471.6(FERMT3):c.615C>T (p.Pro205=) rs142774418 0.00068
NM_031471.6(FERMT3):c.1692C>T (p.Asp564=) rs200243967 0.00057
NM_031471.6(FERMT3):c.930G>C (p.Val310=) rs199508330 0.00054
NM_031471.6(FERMT3):c.1546-6C>T rs200208378 0.00041
NM_031471.6(FERMT3):c.206A>C (p.Lys69Thr) rs146932041 0.00041
NM_031471.6(FERMT3):c.515-5T>A rs371192713 0.00039
NM_031471.6(FERMT3):c.608C>T (p.Pro203Leu) rs78534353 0.00039
NM_031471.6(FERMT3):c.56G>A (p.Arg19Gln) rs150500299 0.00034
NM_031471.6(FERMT3):c.683+18G>A rs369707009 0.00034
NM_031471.6(FERMT3):c.515-7A>T rs200869784 0.00030
NM_031471.6(FERMT3):c.938C>T (p.Pro313Leu) rs141200776 0.00024
NM_031471.6(FERMT3):c.894+10G>A rs112542691 0.00023
NM_031471.6(FERMT3):c.161-6C>T rs114338405 0.00022
NM_031471.6(FERMT3):c.320G>A (p.Arg107His) rs138704967 0.00022
NM_031471.6(FERMT3):c.1430G>A (p.Arg477His) rs199749996 0.00019
NM_031471.6(FERMT3):c.303C>T (p.Ile101=) rs375277199 0.00019
NM_031471.6(FERMT3):c.1080-5C>T rs143722885 0.00018
NM_031471.6(FERMT3):c.1400A>G (p.Gln467Arg) rs758346041 0.00017
NM_031471.6(FERMT3):c.161-12C>T rs372152105 0.00017
NM_031471.6(FERMT3):c.565G>A (p.Ala189Thr) rs200176196 0.00017
NM_031471.6(FERMT3):c.1393G>A (p.Glu465Lys) rs373999037 0.00016
NM_031471.6(FERMT3):c.268C>T (p.Arg90Cys) rs373315115 0.00016
NM_031471.6(FERMT3):c.635G>A (p.Arg212His) rs200467635 0.00015
NM_031471.6(FERMT3):c.124A>G (p.Ile42Val) rs200960603 0.00014
NM_031471.6(FERMT3):c.1251C>T (p.Cys417=) rs374519761 0.00014
NM_031471.6(FERMT3):c.1237G>A (p.Gly413Ser) rs150164798 0.00013
NM_031471.6(FERMT3):c.1828G>A (p.Asp610Asn) rs201257852 0.00013
NM_031471.6(FERMT3):c.269G>A (p.Arg90His) rs552829558 0.00012
NM_031471.6(FERMT3):c.885C>T (p.Ala295=) rs374379186 0.00012
NM_031471.6(FERMT3):c.922G>A (p.Gly308Arg) rs748770309 0.00011
NM_031471.6(FERMT3):c.5C>T (p.Ala2Val) rs551546723 0.00010
NM_031471.6(FERMT3):c.1029+14C>T rs201218236 0.00009
NM_031471.6(FERMT3):c.1221C>T (p.Pro407=) rs370181430 0.00009
NM_031471.6(FERMT3):c.308G>A (p.Arg103Gln) rs1430138108 0.00009
NM_031471.6(FERMT3):c.323G>A (p.Arg108His) rs555550645 0.00009
NM_031471.6(FERMT3):c.786+10G>T rs371382691 0.00009
NM_031471.6(FERMT3):c.786+7C>T rs373211697 0.00009
NM_031471.6(FERMT3):c.86C>T (p.Ala29Val) rs144256756 0.00009
NM_031471.6(FERMT3):c.1647C>T (p.Phe549=) rs370038112 0.00008
NM_031471.6(FERMT3):c.1813-13G>A rs372936910 0.00008
NM_031471.6(FERMT3):c.1014G>A (p.Ala338=) rs774290819 0.00007
NM_031471.6(FERMT3):c.1516C>A (p.Arg506Ser) rs184091587 0.00007
NM_031471.6(FERMT3):c.1545+13G>A rs536991493 0.00007
NM_031471.6(FERMT3):c.298G>A (p.Val100Ile) rs145048660 0.00007
NM_031471.6(FERMT3):c.644G>A (p.Arg215Gln) rs542357552 0.00007
NM_031471.6(FERMT3):c.787-7G>A rs778795486 0.00007
NM_031471.6(FERMT3):c.1205-16C>T rs537958912 0.00006
NM_031471.6(FERMT3):c.1434G>A (p.Thr478=) rs368102589 0.00006
NM_031471.6(FERMT3):c.1464C>T (p.His488=) rs200660798 0.00006
NM_031471.6(FERMT3):c.1545+12C>T rs748289124 0.00006
NM_031471.6(FERMT3):c.1546-12A>G rs766045189 0.00006
NM_031471.6(FERMT3):c.1596G>A (p.Leu532=) rs377200793 0.00006
NM_031471.6(FERMT3):c.307C>T (p.Arg103Trp) rs572874105 0.00006
NM_031471.6(FERMT3):c.315C>G (p.Pro105=) rs367568281 0.00006
NM_031471.6(FERMT3):c.93G>A (p.Ser31=) rs753418361 0.00006
NM_031471.6(FERMT3):c.963C>T (p.Asp321=) rs370133642 0.00006
NM_031471.6(FERMT3):c.1030-3T>C rs772852769 0.00005
NM_031471.6(FERMT3):c.111T>C (p.Thr37=) rs368232843 0.00005
NM_031471.6(FERMT3):c.1192C>T (p.Leu398Phe) rs780759663 0.00005
NM_031471.6(FERMT3):c.1375G>A (p.Asp459Asn) rs374091426 0.00005
NM_031471.6(FERMT3):c.1884C>T (p.His628=) rs747261674 0.00005
NM_031471.6(FERMT3):c.325G>A (p.Ala109Thr) rs765368032 0.00005
NM_031471.6(FERMT3):c.36C>T (p.Ile12=) rs371003332 0.00005
NM_031471.6(FERMT3):c.394+11C>T rs201241002 0.00005
NM_031471.6(FERMT3):c.432T>G (p.Ala144=) rs752383968 0.00005
NM_031471.6(FERMT3):c.642A>G (p.Pro214=) rs375528370 0.00005
NM_031471.6(FERMT3):c.120G>A (p.Ser40=) rs770220477 0.00004
NM_031471.6(FERMT3):c.126C>T (p.Ile42=) rs145854519 0.00004
NM_031471.6(FERMT3):c.129C>T (p.Gly43=) rs772711731 0.00004
NM_031471.6(FERMT3):c.1312-6G>A rs751923843 0.00004
NM_031471.6(FERMT3):c.1312-7C>T rs368719526 0.00004
NM_031471.6(FERMT3):c.1465G>A (p.Gly489Ser) rs373722020 0.00004
NM_031471.6(FERMT3):c.1472A>C (p.Asp491Ala) rs142686129 0.00004
NM_031471.6(FERMT3):c.1483G>A (p.Glu495Lys) rs199681648 0.00004
NM_031471.6(FERMT3):c.1503C>T (p.Gly501=) rs368698573 0.00004
NM_031471.6(FERMT3):c.160+10C>T rs577691940 0.00004
NM_031471.6(FERMT3):c.1671-14T>C rs201170855 0.00004
NM_031471.6(FERMT3):c.1722G>C (p.Leu574=) rs769738360 0.00004
NM_031471.6(FERMT3):c.1740C>T (p.Ala580=) rs201768021 0.00004
NM_031471.6(FERMT3):c.483C>T (p.Leu161=) rs781259522 0.00004
NM_031471.6(FERMT3):c.735C>T (p.Asp245=) rs376170241 0.00004
NM_031471.6(FERMT3):c.795C>T (p.Pro265=) rs578201604 0.00004
NM_031471.6(FERMT3):c.1047C>A (p.Ile349=) rs779076021 0.00003
NM_031471.6(FERMT3):c.1079+8G>T rs568273430 0.00003
NM_031471.6(FERMT3):c.1080-17C>T rs374311779 0.00003
NM_031471.6(FERMT3):c.1231G>A (p.Val411Ile) rs779562122 0.00003
NM_031471.6(FERMT3):c.1361G>A (p.Gly454Asp) rs371103107 0.00003
NM_031471.6(FERMT3):c.1364G>A (p.Arg455His) rs763449183 0.00003
NM_031471.6(FERMT3):c.1445G>A (p.Gly482Asp) rs773457746 0.00003
NM_031471.6(FERMT3):c.1545+5C>T rs755201201 0.00003
NM_031471.6(FERMT3):c.1584C>T (p.Ala528=) rs371831924 0.00003
NM_031471.6(FERMT3):c.1708G>A (p.Ala570Thr) rs756707894 0.00003
NM_031471.6(FERMT3):c.1747G>A (p.Asp583Asn) rs772113837 0.00003
NM_031471.6(FERMT3):c.1813G>A (p.Val605Met) rs749901987 0.00003
NM_031471.6(FERMT3):c.1821C>T (p.Ile607=) rs779453227 0.00003
NM_031471.6(FERMT3):c.1983G>A (p.Glu661=) rs774698514 0.00003
NM_031471.6(FERMT3):c.324C>T (p.Arg108=) rs755053623 0.00003
NM_031471.6(FERMT3):c.37G>A (p.Asp13Asn) rs375595381 0.00003
NM_031471.6(FERMT3):c.536G>A (p.Arg179Gln) rs778967874 0.00003
NM_031471.6(FERMT3):c.568C>G (p.Gln190Glu) rs777178622 0.00003
NM_031471.6(FERMT3):c.616G>A (p.Asp206Asn) rs201973872 0.00003
NM_031471.6(FERMT3):c.629T>A (p.Leu210His) rs147374831 0.00003
NM_031471.6(FERMT3):c.684-8C>T rs775337789 0.00003
NM_031471.6(FERMT3):c.731G>A (p.Gly244Glu) rs776202905 0.00003
NM_031471.6(FERMT3):c.1011G>A (p.Ser337=) rs773558800 0.00002
NM_031471.6(FERMT3):c.1029+19C>G rs986189621 0.00002
NM_031471.6(FERMT3):c.1029+20A>G rs778980698 0.00002
NM_031471.6(FERMT3):c.1312-2A>C rs760261349 0.00002
NM_031471.6(FERMT3):c.1501G>A (p.Gly501Ser) rs142543888 0.00002
NM_031471.6(FERMT3):c.1546-5C>T rs368775495 0.00002
NM_031471.6(FERMT3):c.1593G>A (p.Ser531=) rs768419260 0.00002
NM_031471.6(FERMT3):c.1612C>T (p.Arg538Cys) rs760475221 0.00002
NM_031471.6(FERMT3):c.1732G>A (p.Asp578Asn) rs774682839 0.00002
NM_031471.6(FERMT3):c.1749C>T (p.Asp583=) rs112045200 0.00002
NM_031471.6(FERMT3):c.1808G>A (p.Arg603Gln) rs751183978 0.00002
NM_031471.6(FERMT3):c.1916C>T (p.Thr639Met) rs765844365 0.00002
NM_031471.6(FERMT3):c.1926G>C (p.Arg642=) rs376424992 0.00002
NM_031471.6(FERMT3):c.264C>T (p.Asp88=) rs759003628 0.00002
NM_031471.6(FERMT3):c.28G>A (p.Asp10Asn) rs141640835 0.00002
NM_031471.6(FERMT3):c.313C>T (p.Pro105Ser) rs1234891134 0.00002
NM_031471.6(FERMT3):c.386G>A (p.Arg129His) rs773077169 0.00002
NM_031471.6(FERMT3):c.409G>A (p.Glu137Lys) rs762181713 0.00002
NM_031471.6(FERMT3):c.421C>T (p.Leu141=) rs768084793 0.00002
NM_031471.6(FERMT3):c.481C>G (p.Leu161Val) rs900256457 0.00002
NM_031471.6(FERMT3):c.598C>T (p.Arg200Trp) rs374745942 0.00002
NM_031471.6(FERMT3):c.683+17C>G rs765943402 0.00002
NM_031471.6(FERMT3):c.730G>A (p.Gly244Arg) rs770702307 0.00002
NM_031471.6(FERMT3):c.75G>A (p.Glu25=) rs139520045 0.00002
NM_031471.6(FERMT3):c.786+16G>A rs753096061 0.00002
NM_031471.6(FERMT3):c.786+18G>A rs921890411 0.00002
NM_031471.6(FERMT3):c.895-5C>T rs774974839 0.00002
NM_031471.6(FERMT3):c.1013C>T (p.Ala338Val) rs1006026359 0.00001
NM_031471.6(FERMT3):c.1029+18G>A rs768788260 0.00001
NM_031471.6(FERMT3):c.1029+6G>T rs751036964 0.00001
NM_031471.6(FERMT3):c.1030-20T>C rs2134881481 0.00001
NM_031471.6(FERMT3):c.1030-9C>G rs368225468 0.00001
NM_031471.6(FERMT3):c.1079+10G>T rs554245597 0.00001
NM_031471.6(FERMT3):c.1080-12C>T rs776484766 0.00001
NM_031471.6(FERMT3):c.1080-4G>A rs764978388 0.00001
NM_031471.6(FERMT3):c.1108C>T (p.Arg370Cys) rs867531303 0.00001
NM_031471.6(FERMT3):c.1119G>C (p.Trp373Cys) rs1347504374 0.00001
NM_031471.6(FERMT3):c.1128C>T (p.Phe376=) rs756718345 0.00001
NM_031471.6(FERMT3):c.1165G>A (p.Glu389Lys) rs377759054 0.00001
NM_031471.6(FERMT3):c.1170C>G (p.Ala390=) rs762803060 0.00001
NM_031471.6(FERMT3):c.1222G>A (p.Asp408Asn) rs140907017 0.00001
NM_031471.6(FERMT3):c.1230C>T (p.Asn410=) rs755668952 0.00001
NM_031471.6(FERMT3):c.1236C>T (p.Ser412=) rs187514956 0.00001
NM_031471.6(FERMT3):c.1239C>T (p.Gly413=) rs748029046 0.00001
NM_031471.6(FERMT3):c.1247T>G (p.Phe416Cys) rs772177008 0.00001
NM_031471.6(FERMT3):c.1260C>T (p.Leu420=) rs779788201 0.00001
NM_031471.6(FERMT3):c.1269C>A (p.Pro423=) rs760064066 0.00001
NM_031471.6(FERMT3):c.1301G>A (p.Arg434Gln) rs767054440 0.00001
NM_031471.6(FERMT3):c.1312-13C>T rs1479548772 0.00001
NM_031471.6(FERMT3):c.1363C>T (p.Arg455Cys) rs775462582 0.00001
NM_031471.6(FERMT3):c.1374C>T (p.Ala458=) rs762230079 0.00001
NM_031471.6(FERMT3):c.1392C>T (p.Ser464=) rs764742176 0.00001
NM_031471.6(FERMT3):c.1439G>C (p.Ser480Thr) rs772388994 0.00001
NM_031471.6(FERMT3):c.1448C>T (p.Pro483Leu) rs561391251 0.00001
NM_031471.6(FERMT3):c.144G>T (p.Lys48Asn) rs369062120 0.00001
NM_031471.6(FERMT3):c.1507G>A (p.Val503Ile) rs769458086 0.00001
NM_031471.6(FERMT3):c.1512C>T (p.Ala504=) rs775055062 0.00001
NM_031471.6(FERMT3):c.1527A>C (p.Arg509=) rs755898664 0.00001
NM_031471.6(FERMT3):c.1545+14T>C rs778184949 0.00001
NM_031471.6(FERMT3):c.160+11G>A rs1017427707 0.00001
NM_031471.6(FERMT3):c.1609C>T (p.Leu537=) rs772807042 0.00001
NM_031471.6(FERMT3):c.161-5C>T rs369340432 0.00001
NM_031471.6(FERMT3):c.1635C>G (p.Ser545=) rs765423929 0.00001
NM_031471.6(FERMT3):c.1642G>A (p.Asp548Asn) rs763268722 0.00001
NM_031471.6(FERMT3):c.164G>A (p.Arg55His) rs376084645 0.00001
NM_031471.6(FERMT3):c.1671-18T>A rs1292429128 0.00001
NM_031471.6(FERMT3):c.1671-19C>G rs1203473163 0.00001
NM_031471.6(FERMT3):c.1686G>A (p.Arg562=) rs1052912357 0.00001
NM_031471.6(FERMT3):c.1707C>T (p.Ile569=) rs746482825 0.00001
NM_031471.6(FERMT3):c.1717C>T (p.Arg573Ter) rs121918297 0.00001
NM_031471.6(FERMT3):c.1718G>A (p.Arg573Gln) rs745740665 0.00001
NM_031471.6(FERMT3):c.1726C>T (p.Arg576Cys) rs775250461 0.00001
NM_031471.6(FERMT3):c.1731C>T (p.Ile577=) rs184609471 0.00001
NM_031471.6(FERMT3):c.1741G>A (p.Val581Met) rs767660746 0.00001
NM_031471.6(FERMT3):c.1746C>T (p.Gly582=) rs773426791 0.00001
NM_031471.6(FERMT3):c.1807C>T (p.Arg603Trp) rs1351291515 0.00001
NM_031471.6(FERMT3):c.1812+12C>T rs1282201698 0.00001
NM_031471.6(FERMT3):c.1819A>G (p.Ile607Val) rs755669055 0.00001
NM_031471.6(FERMT3):c.1841A>G (p.Asn614Ser) rs1337201735 0.00001
NM_031471.6(FERMT3):c.1842T>C (p.Asn614=) rs754873524 0.00001
NM_031471.6(FERMT3):c.1857C>T (p.Cys619=) rs199566381 0.00001
NM_031471.6(FERMT3):c.1873C>T (p.Arg625Ter) rs375257104 0.00001
NM_031471.6(FERMT3):c.1889A>G (p.Tyr630Cys) rs1396214789 0.00001
NM_031471.6(FERMT3):c.1894G>A (p.Gly632Arg) rs760031042 0.00001
NM_031471.6(FERMT3):c.1896G>A (p.Gly632=) rs1307248777 0.00001
NM_031471.6(FERMT3):c.18A>G (p.Thr6=) rs749840857 0.00001
NM_031471.6(FERMT3):c.1918C>T (p.Arg640Trp) rs886043481 0.00001
NM_031471.6(FERMT3):c.1924C>T (p.Arg642Trp) rs778780064 0.00001
NM_031471.6(FERMT3):c.1931G>C (p.Arg644Pro) rs368565732 0.00001
NM_031471.6(FERMT3):c.1977C>T (p.Gly659=) rs1248536985 0.00001
NM_031471.6(FERMT3):c.1979A>G (p.His660Arg) rs977349618 0.00001
NM_031471.6(FERMT3):c.213G>C (p.Gln71His) rs1200354303 0.00001
NM_031471.6(FERMT3):c.25G>A (p.Gly9Arg) rs200509898 0.00001
NM_031471.6(FERMT3):c.2T>G (p.Met1Arg) rs753093402 0.00001
NM_031471.6(FERMT3):c.34A>G (p.Ile12Val) rs1946335026 0.00001
NM_031471.6(FERMT3):c.369T>C (p.Ala123=) rs1165361379 0.00001
NM_031471.6(FERMT3):c.389T>G (p.Leu130Arg) rs1433083830 0.00001
NM_031471.6(FERMT3):c.394+19T>G rs577349974 0.00001
NM_031471.6(FERMT3):c.395-10C>T rs1259281702 0.00001
NM_031471.6(FERMT3):c.427C>T (p.Arg143Trp) rs750690989 0.00001
NM_031471.6(FERMT3):c.42G>A (p.Ser14=) rs1179556498 0.00001
NM_031471.6(FERMT3):c.45A>G (p.Ser15=) rs747984187 0.00001
NM_031471.6(FERMT3):c.475G>A (p.Glu159Lys) rs895025488 0.00001
NM_031471.6(FERMT3):c.514+20G>A rs761960286 0.00001
NM_031471.6(FERMT3):c.515-10T>G rs760012312 0.00001
NM_031471.6(FERMT3):c.515-16C>G rs776914667 0.00001
NM_031471.6(FERMT3):c.516C>T (p.Gly172=) rs1484992100 0.00001
NM_031471.6(FERMT3):c.517G>A (p.Val173Met) rs756692622 0.00001
NM_031471.6(FERMT3):c.52C>G (p.Leu18Val) rs772115690 0.00001
NM_031471.6(FERMT3):c.535C>T (p.Arg179Trp) rs754848089 0.00001
NM_031471.6(FERMT3):c.540G>A (p.Gly180=) rs748359903 0.00001
NM_031471.6(FERMT3):c.560A>G (p.Asp187Gly) rs1946432873 0.00001
NM_031471.6(FERMT3):c.564C>T (p.Ser188=) rs1416584001 0.00001
NM_031471.6(FERMT3):c.599G>A (p.Arg200Gln) rs775750630 0.00001
NM_031471.6(FERMT3):c.609G>A (p.Pro203=) rs559712391 0.00001
NM_031471.6(FERMT3):c.643C>T (p.Arg215Trp) rs781642005 0.00001
NM_031471.6(FERMT3):c.660A>G (p.Ser220=) rs1456049623 0.00001
NM_031471.6(FERMT3):c.683+20C>T rs1565290775 0.00001
NM_031471.6(FERMT3):c.698C>T (p.Ser233Leu) rs140948450 0.00001
NM_031471.6(FERMT3):c.6G>A (p.Ala2=) rs767213325 0.00001
NM_031471.6(FERMT3):c.708C>T (p.Leu236=) rs749769689 0.00001
NM_031471.6(FERMT3):c.737C>T (p.Ala246Val) rs762829818 0.00001
NM_031471.6(FERMT3):c.748C>T (p.Arg250Cys) rs1351019832 0.00001
NM_031471.6(FERMT3):c.772G>A (p.Asp258Asn) rs139416960 0.00001
NM_031471.6(FERMT3):c.786+8G>A rs376909061 0.00001
NM_031471.6(FERMT3):c.787-12C>T rs1251257822 0.00001
NM_031471.6(FERMT3):c.827G>A (p.Arg276Gln) rs777040462 0.00001
NM_031471.6(FERMT3):c.843G>A (p.Leu281=) rs1471099892 0.00001
NM_031471.6(FERMT3):c.861C>T (p.Thr287=) rs775734796 0.00001
NM_031471.6(FERMT3):c.87C>T (p.Ala29=) rs147311995 0.00001
NM_031471.6(FERMT3):c.886G>A (p.Ala296Thr) rs1030764940 0.00001
NM_031471.6(FERMT3):c.889C>T (p.Leu297=) rs753533257 0.00001
NM_031471.6(FERMT3):c.894+16G>A rs747695131 0.00001
NM_031471.6(FERMT3):c.894+20G>A rs777822530 0.00001
NM_031471.6(FERMT3):c.901A>G (p.Ile301Val) rs906322276 0.00001
NM_031471.6(FERMT3):c.902T>C (p.Ile301Thr) rs1376001840 0.00001
NM_031471.6(FERMT3):c.939G>A (p.Pro313=) rs1239621595 0.00001
NM_031471.6(FERMT3):c.964G>A (p.Asp322Asn) rs774328748 0.00001
NM_031471.6(FERMT3):c.984C>A (p.Ser328Arg) rs1370150660 0.00001
NM_031471.6(FERMT3):c.9G>A (p.Gly3=) rs1336370957 0.00001
NC_000011.9:g.(?_58916346)_(64972349_?)dup
NC_000011.9:g.(?_63974837)_(63990964_?)dup
NM_031471.6(FERMT3):c.1001T>C (p.Leu334Pro)
NM_031471.6(FERMT3):c.100C>T (p.Leu34=) rs1249761583
NM_031471.6(FERMT3):c.1014G>T (p.Ala338=)
NM_031471.6(FERMT3):c.1029+11G>C rs750237874
NM_031471.6(FERMT3):c.1029+2T>C rs1591038507
NM_031471.6(FERMT3):c.1030-12G>A rs77762249
NM_031471.6(FERMT3):c.1030-16T>G rs2496020252
NM_031471.6(FERMT3):c.1030-7C>T
NM_031471.6(FERMT3):c.1030G>T (p.Asp344Tyr) rs1946632820
NM_031471.6(FERMT3):c.1042A>G (p.Thr348Ala) rs2134881583
NM_031471.6(FERMT3):c.104_105delinsTA (p.Arg35Leu) rs1946337090
NM_031471.6(FERMT3):c.1050A>G (p.Pro350=) rs2134881613
NM_031471.6(FERMT3):c.1070G>A (p.Arg357Gln) rs1946633483
NM_031471.6(FERMT3):c.1077T>G (p.Phe359Leu) rs747475656
NM_031471.6(FERMT3):c.1079+11G>T
NM_031471.6(FERMT3):c.107T>C (p.Val36Ala) rs2495949398
NM_031471.6(FERMT3):c.1080-15C>T rs2134882329
NM_031471.6(FERMT3):c.1080-16C>G rs766312180
NM_031471.6(FERMT3):c.1080-18C>A rs1946637592
NM_031471.6(FERMT3):c.1095C>T (p.Thr365=) rs2134882623
NM_031471.6(FERMT3):c.1104C>G (p.Gly368=) rs2134882687
NM_031471.6(FERMT3):c.110C>T (p.Thr37Ile)
NM_031471.6(FERMT3):c.1113A>G (p.Gln371=)
NM_031471.6(FERMT3):c.1139C>T (p.Thr380Ile) rs1946639980
NM_031471.6(FERMT3):c.113G>C (p.Gly38Ala) rs2134828211
NM_031471.6(FERMT3):c.1152C>T (p.Tyr384=)
NM_031471.6(FERMT3):c.1164C>T (p.Asp388=) rs1021274000
NM_031471.6(FERMT3):c.1179C>T (p.Asp393=)
NM_031471.6(FERMT3):c.1187A>G (p.Gln396Arg) rs767453061
NM_031471.6(FERMT3):c.1202A>C (p.Lys401Thr) rs2496022869
NM_031471.6(FERMT3):c.1204+1G>T
NM_031471.6(FERMT3):c.1205-24_1205-16del
NM_031471.6(FERMT3):c.1205-3C>T rs2496024535
NM_031471.6(FERMT3):c.1205-7C>T rs2134884288
NM_031471.6(FERMT3):c.1311+10G>A rs1946651250
NM_031471.6(FERMT3):c.1311+11dup rs762433118
NM_031471.6(FERMT3):c.1311+13_1311+29del rs2496025248
NM_031471.6(FERMT3):c.1311+6T>G rs2496025209
NM_031471.6(FERMT3):c.1311+9G>A rs111309375
NM_031471.6(FERMT3):c.1312-11del rs2496026070
NM_031471.6(FERMT3):c.1312-18C>T rs2496026016
NM_031471.6(FERMT3):c.1314G>A (p.Glu438=) rs2134885222
NM_031471.6(FERMT3):c.1352C>G (p.Ala451Gly) rs1321022635
NM_031471.6(FERMT3):c.1360G>A (p.Gly454Ser) rs745914766
NM_031471.6(FERMT3):c.1362C>G (p.Gly454=) rs2134885437
NM_031471.6(FERMT3):c.1374C>G (p.Ala458=) rs762230079
NM_031471.6(FERMT3):c.1377C>T (p.Asp459=)
NM_031471.6(FERMT3):c.1389C>T (p.Thr463=) rs753535248
NM_031471.6(FERMT3):c.138C>G (p.Leu46=) rs765072715
NM_031471.6(FERMT3):c.1408C>T (p.Leu470=) rs751370857
NM_031471.6(FERMT3):c.140T>A (p.Leu47Gln) rs1946338724
NM_031471.6(FERMT3):c.1422C>T (p.Ser474=)
NM_031471.6(FERMT3):c.1426C>T (p.Gln476Ter)
NM_031471.6(FERMT3):c.1443G>C (p.Gly481=) rs2496027157
NM_031471.6(FERMT3):c.1448C>G (p.Pro483Arg) rs561391251
NM_031471.6(FERMT3):c.144G>A (p.Lys48=) rs369062120
NM_031471.6(FERMT3):c.1454A>G (p.Asn485Ser) rs2134886036
NM_031471.6(FERMT3):c.1469_1504del (p.Pro490_Gly501del) rs2496027383
NM_031471.6(FERMT3):c.1471G>C (p.Asp491His) rs1203250020
NM_031471.6(FERMT3):c.1497C>G (p.Pro499=) rs1400489114
NM_031471.6(FERMT3):c.1504C>T (p.Leu502Phe) rs773617643
NM_031471.6(FERMT3):c.1516C>T (p.Arg506Cys) rs184091587
NM_031471.6(FERMT3):c.1520T>G (p.Phe507Cys) rs1267328953
NM_031471.6(FERMT3):c.1545+10G>A rs1591040541
NM_031471.6(FERMT3):c.1545+17G>C rs747377468
NM_031471.6(FERMT3):c.1545+18G>T
NM_031471.6(FERMT3):c.1546-15A>G
NM_031471.6(FERMT3):c.1548C>A (p.Leu516=) rs777931977
NM_031471.6(FERMT3):c.155A>G (p.Gln52Arg) rs1468067201
NM_031471.6(FERMT3):c.1566A>T (p.Glu522Asp) rs751972426
NM_031471.6(FERMT3):c.1578T>C (p.Asn526=) rs1288349776
NM_031471.6(FERMT3):c.1593G>T (p.Ser531=) rs768419260
NM_031471.6(FERMT3):c.160+17C>G rs1009780479
NM_031471.6(FERMT3):c.160A>G (p.Asn54Asp)
NM_031471.6(FERMT3):c.161-16C>T rs78038516
NM_031471.6(FERMT3):c.161-20T>C rs2495967627
NM_031471.6(FERMT3):c.161-7C>T
NM_031471.6(FERMT3):c.1613G>A (p.Arg538His) rs1205153436
NM_031471.6(FERMT3):c.1620C>T (p.Ile540=) rs2496032267
NM_031471.6(FERMT3):c.1634C>T (p.Ser545Phe) rs2496032359
NM_031471.6(FERMT3):c.163C>A (p.Arg55Ser) rs769352433
NM_031471.6(FERMT3):c.1650C>T (p.Gly550=) rs957232636
NM_031471.6(FERMT3):c.1658_1659del (p.Tyr553fs) rs1591041141
NM_031471.6(FERMT3):c.1670+10C>T rs2134888721
NM_031471.6(FERMT3):c.1670+19C>A rs1418937922
NM_031471.6(FERMT3):c.1671-15C>G rs78324705
NM_031471.6(FERMT3):c.1671-17C>G
NM_031471.6(FERMT3):c.1671-4_1671del rs2496049730
NM_031471.6(FERMT3):c.1688A>G (p.Lys563Arg) rs754239815
NM_031471.6(FERMT3):c.1701G>A (p.Leu567=) rs2134903886
NM_031471.6(FERMT3):c.1712A>T (p.Asn571Ile) rs1946752193
NM_031471.6(FERMT3):c.1715A>G (p.Asn572Ser) rs867920578
NM_031471.6(FERMT3):c.1725C>A (p.Ile575=) rs1946752742
NM_031471.6(FERMT3):c.1735T>C (p.Leu579=)
NM_031471.6(FERMT3):c.1743G>T (p.Val581=) rs1565299087
NM_031471.6(FERMT3):c.1749C>A (p.Asp583Glu)
NM_031471.6(FERMT3):c.1766G>T (p.Arg589Leu) rs996875102
NM_031471.6(FERMT3):c.1790del (p.Asn597fs) rs2496050786
NM_031471.6(FERMT3):c.1812+13C>A rs2496051060
NM_031471.6(FERMT3):c.1812+18G>A rs756907795
NM_031471.6(FERMT3):c.1812+8C>T rs1946755465
NM_031471.6(FERMT3):c.1813-15_1813-14del rs528684268
NM_031471.6(FERMT3):c.1813-17C>T rs1419820066
NM_031471.6(FERMT3):c.1839C>T (p.Ile613=) rs1405688126
NM_031471.6(FERMT3):c.1866C>T (p.Ala622=) rs772395750
NM_031471.6(FERMT3):c.1867A>G (p.Ser623Gly) rs2134906064
NM_031471.6(FERMT3):c.1887G>C (p.Glu629Asp) rs202127659
NM_031471.6(FERMT3):c.1895G>T (p.Gly632Val) rs1565299599
NM_031471.6(FERMT3):c.1904T>A (p.Ile635Asn) rs2134906387
NM_031471.6(FERMT3):c.1905T>A (p.Ile635=)
NM_031471.6(FERMT3):c.1907T>A (p.Phe636Tyr) rs763346603
NM_031471.6(FERMT3):c.1908C>T (p.Phe636=) rs767132849
NM_031471.6(FERMT3):c.1909C>T (p.Leu637=)
NM_031471.6(FERMT3):c.1910T>G (p.Leu637Arg)
NM_031471.6(FERMT3):c.1911G>A (p.Leu637=) rs2496054424
NM_031471.6(FERMT3):c.1913C>A (p.Ser638Ter) rs1305088399
NM_031471.6(FERMT3):c.1914G>A (p.Ser638=) rs192928228
NM_031471.6(FERMT3):c.1914G>C (p.Ser638=) rs192928228
NM_031471.6(FERMT3):c.1917_1918delinsAG (p.Arg640Gly) rs2496054607
NM_031471.6(FERMT3):c.1918C>A (p.Arg640=) rs886043481
NM_031471.6(FERMT3):c.1931G>A (p.Arg644His) rs368565732
NM_031471.6(FERMT3):c.1954C>T (p.Leu652Phe) rs1457484861
NM_031471.6(FERMT3):c.219G>A (p.Leu73=) rs2134841789
NM_031471.6(FERMT3):c.228C>T (p.Thr76=) rs761577529
NM_031471.6(FERMT3):c.24C>T (p.Ser8=) rs1258498079
NM_031471.6(FERMT3):c.258G>A (p.Leu86=) rs1410429439
NM_031471.6(FERMT3):c.258G>C (p.Leu86=)
NM_031471.6(FERMT3):c.262G>A (p.Asp88Asn) rs370418382
NM_031471.6(FERMT3):c.273C>T (p.Leu91=) rs2495968488
NM_031471.6(FERMT3):c.275T>G (p.Phe92Cys) rs1946416404
NM_031471.6(FERMT3):c.27G>T (p.Gly9=) rs147987989
NM_031471.6(FERMT3):c.294G>A (p.Arg98=) rs2495968661
NM_031471.6(FERMT3):c.351C>G (p.Ser117=) rs1946418377
NM_031471.6(FERMT3):c.357C>T (p.Pro119=) rs1446232659
NM_031471.6(FERMT3):c.394+20C>G
NM_031471.6(FERMT3):c.399C>T (p.Ile133=)
NM_031471.6(FERMT3):c.408C>T (p.Pro136=)
NM_031471.6(FERMT3):c.419C>T (p.Ser140Phe) rs1946424644
NM_031471.6(FERMT3):c.41C>G (p.Ser14Trp) rs778799174
NM_031471.6(FERMT3):c.420C>T (p.Ser140=) rs946464170
NM_031471.6(FERMT3):c.429G>C (p.Arg143=) rs2134843708
NM_031471.6(FERMT3):c.431C>G (p.Ala144Gly) rs778511386
NM_031471.6(FERMT3):c.435T>C (p.Pro145=) rs2134843748
NM_031471.6(FERMT3):c.439AAG[1] (p.Lys148del) rs776324976
NM_031471.6(FERMT3):c.444G>C (p.Lys148Asn) rs2495971683
NM_031471.6(FERMT3):c.445G>A (p.Glu149Lys) rs1189533527
NM_031471.6(FERMT3):c.447GAA[3] (p.Lys153del) rs759155629
NM_031471.6(FERMT3):c.450G>A (p.Lys150=)
NM_031471.6(FERMT3):c.468G>A (p.Glu156=)
NM_031471.6(FERMT3):c.46T>C (p.Trp16Arg) rs2495948800
NM_031471.6(FERMT3):c.479A>T (p.Glu160Val) rs2134843975
NM_031471.6(FERMT3):c.500T>C (p.Val167Ala) rs2134844071
NM_031471.6(FERMT3):c.507G>C (p.Leu169Phe) rs1946427260
NM_031471.6(FERMT3):c.510T>C (p.Ala170=)
NM_031471.6(FERMT3):c.511G>A (p.Gly171Arg) rs2495972336
NM_031471.6(FERMT3):c.514+13G>T rs749484815
NM_031471.6(FERMT3):c.514+15G>A rs768949257
NM_031471.6(FERMT3):c.514+17G>A rs774240509
NM_031471.6(FERMT3):c.515-11C>G
NM_031471.6(FERMT3):c.515-8C>A
NM_031471.6(FERMT3):c.521C>T (p.Ala174Val) rs2134845189
NM_031471.6(FERMT3):c.531G>C (p.Leu177=) rs1397774460
NM_031471.6(FERMT3):c.534C>T (p.Phe178=) rs753685222
NM_031471.6(FERMT3):c.536G>T (p.Arg179Leu) rs778967874
NM_031471.6(FERMT3):c.540del (p.Met181fs) rs2134845306
NM_031471.6(FERMT3):c.544C>T (p.Pro182Ser) rs772203611
NM_031471.6(FERMT3):c.552C>T (p.His184=) rs2134845391
NM_031471.6(FERMT3):c.56G>T (p.Arg19Leu) rs150500299
NM_031471.6(FERMT3):c.613C>A (p.Pro205Thr) rs2134845949
NM_031471.6(FERMT3):c.619C>G (p.Pro207Ala) rs2495974623
NM_031471.6(FERMT3):c.634C>T (p.Arg212Cys) rs369072342
NM_031471.6(FERMT3):c.644G>T (p.Arg215Leu) rs542357552
NM_031471.6(FERMT3):c.657G>A (p.Leu219=) rs2134846219
NM_031471.6(FERMT3):c.664_665del (p.Lys222fs) rs1591028090
NM_031471.6(FERMT3):c.683+17C>T
NM_031471.6(FERMT3):c.683+19C>G rs759456987
NM_031471.6(FERMT3):c.683+5A>C rs1946435926
NM_031471.6(FERMT3):c.683+8C>G
NM_031471.6(FERMT3):c.684-10C>G rs201247420
NM_031471.6(FERMT3):c.684-10C>T rs201247420
NM_031471.6(FERMT3):c.684-1G>A rs2495977429
NM_031471.6(FERMT3):c.684-6G>T rs2495977389
NM_031471.6(FERMT3):c.684-9G>A rs765206442
NM_031471.6(FERMT3):c.699G>A (p.Ser233=)
NM_031471.6(FERMT3):c.699G>T (p.Ser233=) rs750515226
NM_031471.6(FERMT3):c.700C>A (p.Arg234=) rs1260750258
NM_031471.6(FERMT3):c.700C>T (p.Arg234Trp) rs1260750258
NM_031471.6(FERMT3):c.702G>A (p.Arg234=) rs780592693
NM_031471.6(FERMT3):c.706C>T (p.Leu236Phe) rs1946443415
NM_031471.6(FERMT3):c.719G>A (p.Gly240Asp) rs2134847767
NM_031471.6(FERMT3):c.724A>G (p.Lys242Glu) rs1408986056
NM_031471.6(FERMT3):c.728C>G (p.Ala243Gly) rs1402606308
NM_031471.6(FERMT3):c.733G>C (p.Asp245His)
NM_031471.6(FERMT3):c.749G>A (p.Arg250His) rs764034289
NM_031471.6(FERMT3):c.749G>T (p.Arg250Leu) rs764034289
NM_031471.6(FERMT3):c.74A>G (p.Glu25Gly) rs2134828037
NM_031471.6(FERMT3):c.756G>A (p.Lys252=) rs2134847985
NM_031471.6(FERMT3):c.765C>A (p.Ser255Arg) rs1359134455
NM_031471.6(FERMT3):c.771C>T (p.Phe257=) rs368973559
NM_031471.6(FERMT3):c.786+1G>T rs1946445537
NM_031471.6(FERMT3):c.787-10C>T rs11603538
NM_031471.6(FERMT3):c.787-13C>T
NM_031471.6(FERMT3):c.787-14_788del
NM_031471.6(FERMT3):c.787-8C>A rs202116077
NM_031471.6(FERMT3):c.787-8C>G rs202116077
NM_031471.6(FERMT3):c.787-8C>T rs202116077
NM_031471.6(FERMT3):c.787-8del rs748191376
NM_031471.6(FERMT3):c.787-8dup rs748191376
NM_031471.6(FERMT3):c.787-9C>T rs1399195192
NM_031471.6(FERMT3):c.790G>C (p.Asp264His) rs1303226802
NM_031471.6(FERMT3):c.814dup (p.Tyr272fs) rs1591037806
NM_031471.6(FERMT3):c.832G>C (p.Asp278His)
NM_031471.6(FERMT3):c.834C>T (p.Asp278=) rs1946620496
NM_031471.6(FERMT3):c.847_853del (p.Glu283fs) rs2496016889
NM_031471.6(FERMT3):c.849G>T (p.Glu283Asp) rs568602034
NM_031471.6(FERMT3):c.84G>A (p.Glu28=)
NM_031471.6(FERMT3):c.862G>A (p.Glu288Lys) rs1294902127
NM_031471.6(FERMT3):c.891G>A (p.Leu297=) rs2134879914
NM_031471.6(FERMT3):c.894+9C>A rs377003245
NM_031471.6(FERMT3):c.894+9C>T rs377003245
NM_031471.6(FERMT3):c.895-19T>C rs1946625797
NM_031471.6(FERMT3):c.90G>A (p.Glu30=) rs2495949192
NM_031471.6(FERMT3):c.912G>T (p.Leu304=) rs1946626509
NM_031471.6(FERMT3):c.930G>A (p.Val310=) rs199508330
NM_031471.6(FERMT3):c.930G>T (p.Val310=) rs199508330
NM_031471.6(FERMT3):c.941C>T (p.Ala314Val) rs566565776
NM_031471.6(FERMT3):c.967C>G (p.Leu323Val) rs1177180183
NM_031471.6(FERMT3):c.981G>C (p.Leu327=)
NM_031471.6(FERMT3):c.987C>T (p.Asn329=) rs1217783244
NM_031471.6(FERMT3):c.992A>C (p.Glu331Ala) rs1591038431

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