ClinVar Miner

List of variants in gene LARGE1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 256
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HGVS dbSNP gnomAD frequency
NM_133642.5(LARGE1):c.-82-269A>G rs238859 0.90462
NM_133642.5(LARGE1):c.-83+62952T>C rs1009383 0.81885
NM_133642.5(LARGE1):c.-83+63438C>T rs2277840 0.81847
NM_133642.5(LARGE1):c.615+191A>G rs695504 0.59717
NM_133642.5(LARGE1):c.787+158T>C rs713795 0.39970
NM_133642.5(LARGE1):c.435C>T (p.Ala145=) rs86487 0.39804
NM_133642.5(LARGE1):c.1288-214G>A rs2285105 0.29048
NM_133642.5(LARGE1):c.1132-208G>A rs2285106 0.28141
NM_133642.5(LARGE1):c.615+246A>G rs2239746 0.26150
NM_133642.5(LARGE1):c.615+139G>C rs695258 0.26121
NM_133642.5(LARGE1):c.788-330A>C rs2280978 0.14711
NM_133642.5(LARGE1):c.1132-153C>T rs2157198 0.13774
NM_133642.5(LARGE1):c.1132-175A>G rs2157199 0.13762
NM_133642.5(LARGE1):c.1132-190G>T rs2157200 0.13752
NM_133642.5(LARGE1):c.893-235T>G rs76972817 0.11531
NM_133642.5(LARGE1):c.408+144G>A rs5994783 0.11500
NM_133642.5(LARGE1):c.787+286G>T rs5999013 0.11071
NM_133642.5(LARGE1):c.1287+105G>C rs16992166 0.10729
NM_133642.5(LARGE1):c.1006-195G>A rs16992223 0.09734
NM_133642.5(LARGE1):c.1131+258C>G rs11912366 0.09699
NM_133642.5(LARGE1):c.1731-91C>G rs1018365 0.09684
NM_133642.5(LARGE1):c.408+247G>A rs9621740 0.09675
NM_133642.5(LARGE1):c.1877+183C>T rs17795326 0.08458
NM_133642.5(LARGE1):c.409-65del rs68171942 0.07537
NM_133642.5(LARGE1):c.1730+67A>G rs78116727 0.06015
NM_133642.5(LARGE1):c.787+120G>C rs3213513 0.05608
NM_133642.5(LARGE1):c.1730+286A>G rs73166234 0.05185
NM_133642.5(LARGE1):c.788-181G>A rs73166278 0.04905
NM_133642.5(LARGE1):c.2074-69C>T rs41282597 0.04735
NM_133642.5(LARGE1):c.2073+152G>A rs2075921 0.04155
NM_133642.5(LARGE1):c.892+79T>G rs16992336 0.04142
NM_133642.5(LARGE1):c.1452-225C>G rs79665582 0.04130
NM_133642.5(LARGE1):c.1132-318A>G rs11913784 0.04109
NM_133642.5(LARGE1):c.1452-254A>C rs75528068 0.03710
NM_133642.5(LARGE1):c.1731-24T>C rs73399532 0.03540
NM_133642.5(LARGE1):c.*154C>A rs73399512 0.03456
NM_133642.5(LARGE1):c.*207G>A rs16992036 0.03294
NM_133642.5(LARGE1):c.1452-209T>C rs79121173 0.02741
NM_133642.5(LARGE1):c.1730+118G>A rs80188851 0.02730
NM_133642.5(LARGE1):c.1730+239G>A rs75729506 0.02621
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) rs34292743 0.02604
NM_133642.5(LARGE1):c.1452-293A>G rs1555007 0.02310
NM_133642.5(LARGE1):c.1451+197T>C rs151150001 0.02220
NM_133642.5(LARGE1):c.1731-87G>T rs11913298 0.02191
NM_133642.5(LARGE1):c.1006-280A>G rs75119296 0.02053
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln) rs73399520 0.01853
NM_133642.5(LARGE1):c.408+269G>A rs16992701 0.01756
NM_133642.5(LARGE1):c.788-65A>G rs80069366 0.01526
NM_133642.5(LARGE1):c.1131+221C>T rs16992221 0.01412
NM_133642.5(LARGE1):c.1288-125G>A rs117098200 0.01356
NM_133642.5(LARGE1):c.2074-265G>A rs16992044 0.01297
NM_133642.5(LARGE1):c.491+204G>A rs117818422 0.01119
NM_133642.5(LARGE1):c.2074-98G>C rs41282599 0.01097
NM_133642.5(LARGE1):c.1005+282G>A rs116177817 0.01071
NM_133642.5(LARGE1):c.1131+110G>T rs78374444 0.01046
NM_133642.5(LARGE1):c.1287+146C>T rs138816517 0.00980
NM_133642.5(LARGE1):c.1452-226_1452-225insGATATCA rs1569034184 0.00933
NM_133642.5(LARGE1):c.1877+99C>T rs79668268 0.00826
NM_133642.5(LARGE1):c.1451+38C>T rs80016718 0.00792
NM_133642.5(LARGE1):c.1287+56A>G rs112252346 0.00774
NM_133642.5(LARGE1):c.1131+58C>T rs144087511 0.00746
NM_133642.5(LARGE1):c.-31G>A rs117199378 0.00694
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_133642.5(LARGE1):c.-83+187C>T rs77908284 0.00605
NM_133642.5(LARGE1):c.1005+176C>T rs73882212 0.00597
NM_133642.5(LARGE1):c.788-29A>G rs147579402 0.00569
NM_133642.5(LARGE1):c.1005+98G>A rs2235151 0.00503
NM_133642.5(LARGE1):c.892+50C>T rs62225294 0.00471
NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala) rs34642406 0.00430
NM_133642.5(LARGE1):c.-83+63134A>G rs148432069 0.00374
NM_133642.5(LARGE1):c.1451+273A>G rs190325661 0.00354
NM_133642.5(LARGE1):c.408+42C>T rs183384695 0.00330
NM_133642.5(LARGE1):c.616-304T>G rs182874546 0.00227
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=) rs74550830 0.00224
NM_133642.5(LARGE1):c.210C>T (p.Arg70=) rs145048151 0.00220
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=) rs113253213 0.00174
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile) rs150861748 0.00119
NM_133642.5(LARGE1):c.408+8G>A rs141818070 0.00103
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=) rs144216539 0.00100
NM_133642.5(LARGE1):c.1071T>C (p.Asn357=) rs146552975 0.00092
NM_133642.5(LARGE1):c.2001C>T (p.Cys667=) rs116734942 0.00081
NM_133642.5(LARGE1):c.1962G>A (p.Glu654=) rs141089495 0.00070
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys) rs116164106 0.00057
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile) rs56239539 0.00027
NM_133642.5(LARGE1):c.535G>A (p.Glu179Lys) rs370128137 0.00026
NM_133642.5(LARGE1):c.178C>T (p.Arg60Trp) rs142135345 0.00025
NM_133642.5(LARGE1):c.1878-11G>T rs200819807 0.00025
NM_133642.5(LARGE1):c.584G>A (p.Arg195His) rs147597912 0.00017
NM_133642.5(LARGE1):c.1892C>T (p.Thr631Met) rs368043810 0.00016
NM_133642.5(LARGE1):c.179G>A (p.Arg60Gln) rs147620818 0.00014
NM_133642.5(LARGE1):c.1154A>G (p.Lys385Arg) rs767519400 0.00013
NM_133642.5(LARGE1):c.1577G>A (p.Arg526His) rs536420427 0.00013
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=) rs12627793 0.00012
NM_133642.5(LARGE1):c.1645G>A (p.Val549Met) rs149646216 0.00011
NM_133642.5(LARGE1):c.2256C>T (p.Ala752=) rs114246562 0.00011
NM_133642.5(LARGE1):c.460G>A (p.Val154Ile) rs138938225 0.00011
NM_133642.5(LARGE1):c.1791C>T (p.Phe597=) rs369773678 0.00010
NM_133642.5(LARGE1):c.334G>A (p.Glu112Lys) rs146078928 0.00010
NM_133642.5(LARGE1):c.478G>A (p.Val160Ile) rs775539988 0.00010
NM_133642.5(LARGE1):c.796G>C (p.Val266Leu) rs145594612 0.00010
NM_133642.5(LARGE1):c.432C>T (p.Cys144=) rs201977889 0.00009
NM_133642.5(LARGE1):c.857G>A (p.Arg286His) rs200035534 0.00007
NM_133642.5(LARGE1):c.118G>A (p.Val40Met) rs188675457 0.00006
NM_133642.5(LARGE1):c.131C>T (p.Pro44Leu) rs143437080 0.00006
NM_133642.5(LARGE1):c.1584C>T (p.Asn528=) rs113492643 0.00006
NM_133642.5(LARGE1):c.2255C>G (p.Ala752Gly) rs200024875 0.00006
NM_133642.5(LARGE1):c.252C>T (p.Ser84=) rs56202589 0.00006
NM_133642.5(LARGE1):c.941A>T (p.Gln314Leu) rs149747266 0.00006
NM_133642.5(LARGE1):c.2213T>C (p.Met738Thr) rs776954687 0.00005
NM_133642.5(LARGE1):c.1116C>T (p.Asp372=) rs398124182 0.00004
NM_133642.5(LARGE1):c.1287+11C>T rs398124183 0.00004
NM_133642.5(LARGE1):c.1287C>T (p.Asn429=) rs561439887 0.00004
NM_133642.5(LARGE1):c.1349G>A (p.Arg450His) rs371071263 0.00004
NM_133642.5(LARGE1):c.1413C>A (p.Ser471Arg) rs376160270 0.00004
NM_133642.5(LARGE1):c.2257G>A (p.Glu753Lys) rs139853494 0.00004
NM_133642.5(LARGE1):c.259C>A (p.Gln87Lys) rs373853930 0.00004
NM_133642.5(LARGE1):c.26G>A (p.Arg9Gln) rs763697782 0.00004
NM_133642.5(LARGE1):c.266G>A (p.Arg89Gln) rs142272515 0.00003
NM_133642.5(LARGE1):c.417C>T (p.His139=) rs115575249 0.00003
NM_133642.5(LARGE1):c.551C>T (p.Thr184Met) rs138676820 0.00003
NM_133642.5(LARGE1):c.607G>A (p.Glu203Lys) rs776803926 0.00003
NM_133642.5(LARGE1):c.1132-8C>T rs748964975 0.00002
NM_133642.5(LARGE1):c.1320C>T (p.Asp440=) rs772615481 0.00002
NM_133642.5(LARGE1):c.1785C>T (p.Pro595=) rs751341620 0.00002
NM_133642.5(LARGE1):c.1792G>A (p.Glu598Lys) rs144045461 0.00002
NM_133642.5(LARGE1):c.1878-24A>G rs375863881 0.00002
NM_133642.5(LARGE1):c.1993C>T (p.Arg665Cys) rs749437299 0.00002
NM_133642.5(LARGE1):c.424A>G (p.Ile142Val) rs199906790 0.00002
NM_133642.5(LARGE1):c.615+8C>T rs587783731 0.00002
NM_133642.5(LARGE1):c.1056C>A (p.Leu352=) rs369877399 0.00001
NM_133642.5(LARGE1):c.1094G>A (p.Arg365His) rs749284964 0.00001
NM_133642.5(LARGE1):c.1102C>T (p.Gln368Ter) rs398124181 0.00001
NM_133642.5(LARGE1):c.1229A>G (p.Asn410Ser) rs199912424 0.00001
NM_133642.5(LARGE1):c.1234C>T (p.Leu412=) rs748508322 0.00001
NM_133642.5(LARGE1):c.1416G>A (p.Thr472=) rs755991003 0.00001
NM_133642.5(LARGE1):c.1432G>A (p.Ala478Thr) rs778360056 0.00001
NM_133642.5(LARGE1):c.1611G>A (p.Glu537=) rs372629986 0.00001
NM_133642.5(LARGE1):c.1663A>G (p.Ser555Gly) rs760507626 0.00001
NM_133642.5(LARGE1):c.1705A>G (p.Met569Val) rs1208818239 0.00001
NM_133642.5(LARGE1):c.1902C>T (p.His634=) rs754149838 0.00001
NM_133642.5(LARGE1):c.2228G>A (p.Gly743Asp) rs746916767 0.00001
NM_133642.5(LARGE1):c.227A>C (p.Asn76Thr) rs752854659 0.00001
NM_133642.5(LARGE1):c.245A>G (p.Gln82Arg) rs774035009 0.00001
NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr) rs398124184 0.00001
NM_133642.5(LARGE1):c.284G>A (p.Arg95Gln) rs773482355 0.00001
NM_133642.5(LARGE1):c.298A>G (p.Lys100Glu) rs985654114 0.00001
NM_133642.5(LARGE1):c.755C>T (p.Ala252Val) rs764632554 0.00001
GRCh37/hg19 22q12.3(chr22:33528709-33839217)x3
GRCh37/hg19 22q12.3(chr22:33655596-34004153)x1
GRCh37/hg19 22q12.3(chr22:33660717-33940002)x4
GRCh37/hg19 22q12.3(chr22:33698972-33706824)x1
GRCh37/hg19 22q12.3(chr22:33716946-34230190)x1
GRCh37/hg19 22q12.3(chr22:33718485-34386473)x1
GRCh37/hg19 22q12.3(chr22:33736087-33736744)x1
GRCh37/hg19 22q12.3(chr22:33736087-33743341)x0
GRCh37/hg19 22q12.3(chr22:33755901-33760604)x1
GRCh37/hg19 22q12.3(chr22:33760603-33893824)x1
GRCh37/hg19 22q12.3(chr22:33763247-33771672)x1
GRCh37/hg19 22q12.3(chr22:33766524-33947402)x3
GRCh37/hg19 22q12.3(chr22:33779182-33782594)x1
GRCh37/hg19 22q12.3(chr22:33780897-33782594)x0
GRCh37/hg19 22q12.3(chr22:33781011-33782594)x1
GRCh37/hg19 22q12.3(chr22:33786251-33872846)x1
GRCh37/hg19 22q12.3(chr22:33789711-34054580)x1
GRCh37/hg19 22q12.3(chr22:33810569-33838701)x3
GRCh37/hg19 22q12.3(chr22:33816856-33909777)x1
GRCh37/hg19 22q12.3(chr22:33904676-33915455)x3
GRCh37/hg19 22q12.3(chr22:33907005-33978458)x1
GRCh37/hg19 22q12.3(chr22:33909775-34583176)x3
GRCh37/hg19 22q12.3(chr22:33914823-34110028)x1
GRCh37/hg19 22q12.3(chr22:33923345-33983594)x1
GRCh37/hg19 22q12.3(chr22:33960834-34046791)x1
GRCh37/hg19 22q12.3(chr22:33960834-34046791)x3
GRCh37/hg19 22q12.3(chr22:33963790-33981599)x1
GRCh37/hg19 22q12.3(chr22:33983040-34200588)x1
GRCh37/hg19 22q12.3(chr22:34015991-34259378)x1
GRCh37/hg19 22q12.3(chr22:34047444-34050747)x1
GRCh37/hg19 22q12.3(chr22:34087695-34148622)x1
GRCh37/hg19 22q12.3(chr22:34098416-34197367)x1
GRCh37/hg19 22q12.3(chr22:34109005-34225482)x1
GRCh37/hg19 22q12.3(chr22:34130912-34188220)x1
GRCh37/hg19 22q12.3(chr22:34192190-34281098)x1
GRCh37/hg19 22q12.3(chr22:34210930-34463313)x3
GRCh37/hg19 22q12.3(chr22:34220795-34281098)x1
GRCh37/hg19 22q12.3(chr22:34287350-34315294)x3
GRCh37/hg19 22q12.3(chr22:34307510-34723028)x3
NM_133642.5(LARGE1):c.-82-194_-82-192del rs71667420
NM_133642.5(LARGE1):c.1060T>G (p.Cys354Gly)
NM_133642.5(LARGE1):c.107-184G>C rs9621741
NM_133642.5(LARGE1):c.1159C>G (p.Leu387Val) rs2146571978
NM_133642.5(LARGE1):c.1162C>T (p.Arg388Trp) rs767127452
NM_133642.5(LARGE1):c.1169A>G (p.Lys390Arg)
NM_133642.5(LARGE1):c.117C>A (p.Pro39=) rs140622529
NM_133642.5(LARGE1):c.118G>C (p.Val40Leu) rs188675457
NM_133642.5(LARGE1):c.118G>T (p.Val40Leu) rs188675457
NM_133642.5(LARGE1):c.1288C>G (p.Leu430Val) rs775051738
NM_133642.5(LARGE1):c.1314C>T (p.Asp438=)
NM_133642.5(LARGE1):c.1343G>A (p.Arg448Gln) rs1064796524
NM_133642.5(LARGE1):c.1452-1058A>T
NM_133642.5(LARGE1):c.1452-28C>T rs76647066
NM_133642.5(LARGE1):c.1452-7C>T rs760909985
NM_133642.5(LARGE1):c.1453C>A (p.Leu485Ile)
NM_133642.5(LARGE1):c.1570A>C (p.Met524Leu) rs2146165030
NM_133642.5(LARGE1):c.161A>C (p.Tyr54Ser) rs1555984077
NM_133642.5(LARGE1):c.164C>A (p.Thr55Lys)
NM_133642.5(LARGE1):c.1656G>C (p.Lys552Asn) rs138573955
NM_133642.5(LARGE1):c.1711G>A (p.Gly571Arg)
NM_133642.5(LARGE1):c.1731-10C>T rs772579469
NM_133642.5(LARGE1):c.1731-88G>T rs11913299
NM_133642.5(LARGE1):c.1733A>T (p.Lys578Met)
NM_133642.5(LARGE1):c.1750G>A (p.Asp584Asn)
NM_133642.5(LARGE1):c.1775T>C (p.Met592Thr) rs1602229851
NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile) rs576967464
NM_133642.5(LARGE1):c.1802G>A (p.Arg601His) rs771376144
NM_133642.5(LARGE1):c.1877+89G>A rs5998842
NM_133642.5(LARGE1):c.1976C>T (p.Pro659Leu) rs778669044
NM_133642.5(LARGE1):c.1977G>A (p.Pro659=) rs768565081
NM_133642.5(LARGE1):c.1980TGT[2] (p.Val663del)
NM_133642.5(LARGE1):c.2019G>T (p.Arg673Ser)
NM_133642.5(LARGE1):c.2074-109G>A rs59957248
NM_133642.5(LARGE1):c.2105A>T (p.Tyr702Phe)
NM_133642.5(LARGE1):c.2116A>G (p.Met706Val)
NM_133642.5(LARGE1):c.2120C>T (p.Pro707Leu)
NM_133642.5(LARGE1):c.2162A>G (p.Lys721Arg)
NM_133642.5(LARGE1):c.216G>C (p.Val72=) rs567998643
NM_133642.5(LARGE1):c.220G>A (p.Glu74Lys) rs757062605
NM_133642.5(LARGE1):c.2217C>G (p.Ser739=) rs1406330296
NM_133642.5(LARGE1):c.246G>T (p.Gln82His) rs768234422
NM_133642.5(LARGE1):c.272C>A (p.Pro91Gln)
NM_133642.5(LARGE1):c.293A>G (p.His98Arg)
NM_133642.5(LARGE1):c.409-39G>C rs145859359
NM_133642.5(LARGE1):c.445G>T (p.Ala149Ser)
NM_133642.5(LARGE1):c.493C>T (p.Arg165Trp) rs765312193
NM_133642.5(LARGE1):c.500C>G (p.Pro167Arg)
NM_133642.5(LARGE1):c.549C>T (p.Ala183=) rs1602669837
NM_133642.5(LARGE1):c.550A>G (p.Thr184Ala)
NM_133642.5(LARGE1):c.611T>C (p.Leu204Pro)
NM_133642.5(LARGE1):c.616-39del rs201800550
NM_133642.5(LARGE1):c.665T>C (p.Leu222Pro)
NM_133642.5(LARGE1):c.690T>C (p.Thr230=) rs753562472
NM_133642.5(LARGE1):c.728C>G (p.Thr243Arg) rs1267359140
NM_133642.5(LARGE1):c.72C>T (p.Ile24=) rs727503994
NM_133642.5(LARGE1):c.746C>A (p.Thr249Asn) rs1256101536
NM_133642.5(LARGE1):c.754G>A (p.Ala252Thr)
NM_133642.5(LARGE1):c.788-331_788-330insATGCATGA rs146169927
NM_133642.5(LARGE1):c.788-331_788-330insATGCATGAATGA rs146169927
NM_133642.5(LARGE1):c.788-331_788-330insATGCATGCATGA rs146169927
NM_133642.5(LARGE1):c.788-331_788-330insATGCGTGA rs146169927
NM_133642.5(LARGE1):c.788-333ATGA[10] rs10626676
NM_133642.5(LARGE1):c.788-333ATGA[11] rs10626676
NM_133642.5(LARGE1):c.788-333ATGA[8] rs10626676
NM_133642.5(LARGE1):c.788-346CATG[5] rs1555916106
NM_133642.5(LARGE1):c.862T>C (p.Trp288Arg)
NM_133642.5(LARGE1):c.893-64_893-55del rs150907937
NM_133642.5(LARGE1):c.909T>G (p.Leu303=) rs563144239
NM_133642.5(LARGE1):c.929T>A (p.Met310Lys) rs1555908091

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