ClinVar Miner

List of variants in gene LARGE1 reported as uncertain significance for congenital muscular dystrophy

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 292
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_133642.5(LARGE1):c.-399A>T rs535216289 0.00327
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=) rs74550830 0.00224
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=) rs113253213 0.00174
NM_133642.5(LARGE1):c.-455G>A rs532736408 0.00134
NM_133642.5(LARGE1):c.*100C>A rs567278765 0.00131
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile) rs150861748 0.00119
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=) rs144216539 0.00100
NM_133642.5(LARGE1):c.-271G>A rs185068235 0.00093
NM_133642.5(LARGE1):c.1962G>A (p.Glu654=) rs141089495 0.00070
NM_133642.5(LARGE1):c.-194G>A rs530725597 0.00059
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys) rs116164106 0.00057
NM_133642.5(LARGE1):c.*823_*824dup rs140177888 0.00039
NM_133642.5(LARGE1):c.*998A>G rs886057455 0.00033
NM_133642.5(LARGE1):c.*798G>A rs778063005 0.00029
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.*155C>T rs551266967 0.00023
NM_133642.5(LARGE1):c.*699G>A rs760092745 0.00021
NM_133642.5(LARGE1):c.-343C>A rs886057467 0.00019
NM_133642.5(LARGE1):c.1675A>G (p.Met559Val) rs191368661 0.00019
NM_133642.5(LARGE1):c.*455C>T rs886057460 0.00018
NM_133642.5(LARGE1):c.584G>A (p.Arg195His) rs147597912 0.00017
NM_133642.5(LARGE1):c.-247T>G rs886057463 0.00016
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.1577G>A (p.Arg526His) rs536420427 0.00013
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=) rs12627793 0.00012
NM_133642.5(LARGE1):c.*499G>A rs886057458 0.00011
NM_133642.5(LARGE1):c.1645G>A (p.Val549Met) rs149646216 0.00011
NM_133642.5(LARGE1):c.1664G>A (p.Ser555Asn) rs773148038 0.00011
NM_133642.5(LARGE1):c.2073+11C>T rs774384587 0.00011
NM_133642.5(LARGE1):c.460G>A (p.Val154Ile) rs138938225 0.00011
NM_133642.5(LARGE1):c.*849C>T rs149508241 0.00010
NM_133642.5(LARGE1):c.2015G>A (p.Arg672Gln) rs145736519 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.119T>C (p.Val40Ala) rs148383806 0.00007
NM_133642.5(LARGE1):c.1277A>C (p.Asn426Thr) rs369552267 0.00007
NM_133642.5(LARGE1):c.857G>A (p.Arg286His) rs200035534 0.00007
NM_133642.5(LARGE1):c.*186C>T rs780030367 0.00006
NM_133642.5(LARGE1):c.*770A>T rs886057456 0.00006
NM_133642.5(LARGE1):c.-242C>T rs886057462 0.00006
NM_133642.5(LARGE1):c.-277T>G rs886057464 0.00006
NM_133642.5(LARGE1):c.-287A>G rs886057465 0.00006
NM_133642.5(LARGE1):c.-83+63184A>C rs759992064 0.00006
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.1521C>A (p.Asp507Glu) rs1312649028 0.00006
NM_133642.5(LARGE1):c.1928G>A (p.Arg643Gln) rs151199006 0.00006
NM_133642.5(LARGE1):c.2255C>G (p.Ala752Gly) rs200024875 0.00006
NM_133642.5(LARGE1):c.941A>T (p.Gln314Leu) rs149747266 0.00006
NM_133642.5(LARGE1):c.99C>T (p.Ser33=) rs377353667 0.00006
NM_133642.5(LARGE1):c.1389C>T (p.Tyr463=) rs115686643 0.00005
NM_133642.5(LARGE1):c.2213T>C (p.Met738Thr) rs776954687 0.00005
NM_133642.5(LARGE1):c.*566G>A rs878945156 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.1597A>G (p.Ile533Val) rs566107119 0.00004
NM_133642.5(LARGE1):c.221A>C (p.Glu74Ala) rs751789128 0.00004
NM_133642.5(LARGE1):c.2222G>A (p.Arg741His) rs747003834 0.00004
NM_133642.5(LARGE1):c.2257G>A (p.Glu753Lys) rs139853494 0.00004
NM_133642.5(LARGE1):c.26G>A (p.Arg9Gln) rs763697782 0.00004
NM_133642.5(LARGE1):c.533C>T (p.Ala178Val) rs377460238 0.00004
NM_133642.5(LARGE1):c.*580C>T rs776235903 0.00003
NM_133642.5(LARGE1):c.*833A>G rs748248240 0.00003
NM_133642.5(LARGE1):c.*969G>A rs892305427 0.00003
NM_133642.5(LARGE1):c.-47C>T rs775356534 0.00003
NM_133642.5(LARGE1):c.1677G>A (p.Met559Ile) rs376455063 0.00003
NM_133642.5(LARGE1):c.2208G>A (p.Gln736=) rs759427879 0.00003
NM_133642.5(LARGE1):c.239G>T (p.Arg80Leu) rs761004017 0.00003
NM_133642.5(LARGE1):c.266G>A (p.Arg89Gln) rs142272515 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.923G>A (p.Arg308Gln) rs773959791 0.00003
NM_133642.5(LARGE1):c.1132-3C>G rs755662032 0.00002
NM_133642.5(LARGE1):c.1241G>A (p.Arg414Gln) rs200603479 0.00002
NM_133642.5(LARGE1):c.1320C>T (p.Asp440=) rs772615481 0.00002
NM_133642.5(LARGE1):c.1340G>A (p.Arg447Gln) rs139603473 0.00002
NM_133642.5(LARGE1):c.1544G>A (p.Arg515His) rs368030516 0.00002
NM_133642.5(LARGE1):c.1792G>A (p.Glu598Lys) rs144045461 0.00002
NM_133642.5(LARGE1):c.1839G>T (p.Leu613Phe) rs745392097 0.00002
NM_133642.5(LARGE1):c.1885G>A (p.Val629Ile) rs547202997 0.00002
NM_133642.5(LARGE1):c.2070G>A (p.Val690=) rs771631103 0.00002
NM_133642.5(LARGE1):c.2264A>G (p.Asn755Ser) rs755283207 0.00002
NM_133642.5(LARGE1):c.424A>G (p.Ile142Val) rs199906790 0.00002
NM_133642.5(LARGE1):c.590A>C (p.Asp197Ala) rs765069383 0.00002
NM_133642.5(LARGE1):c.*1229G>A rs918504034 0.00001
NM_133642.5(LARGE1):c.-34G>A rs759430272 0.00001
NM_133642.5(LARGE1):c.-359C>G rs886057468 0.00001
NM_133642.5(LARGE1):c.1005+15T>G rs1414312676 0.00001
NM_133642.5(LARGE1):c.106+6A>C rs746650831 0.00001
NM_133642.5(LARGE1):c.1229A>G (p.Asn410Ser) rs199912424 0.00001
NM_133642.5(LARGE1):c.1299G>T (p.Gln433His) rs1463323644 0.00001
NM_133642.5(LARGE1):c.1331A>G (p.Tyr444Cys) rs748074253 0.00001
NM_133642.5(LARGE1):c.1390G>A (p.Glu464Lys) rs772985451 0.00001
NM_133642.5(LARGE1):c.1415C>T (p.Thr472Met) rs779725828 0.00001
NM_133642.5(LARGE1):c.1432G>A (p.Ala478Thr) rs778360056 0.00001
NM_133642.5(LARGE1):c.1501C>G (p.Leu501Val) rs966974831 0.00001
NM_133642.5(LARGE1):c.1585G>A (p.Val529Met) rs146923365 0.00001
NM_133642.5(LARGE1):c.164C>T (p.Thr55Met) rs766363552 0.00001
NM_133642.5(LARGE1):c.1654A>G (p.Lys552Glu) rs764803042 0.00001
NM_133642.5(LARGE1):c.1663A>G (p.Ser555Gly) rs760507626 0.00001
NM_133642.5(LARGE1):c.1702C>G (p.Pro568Ala) rs1934563241 0.00001
NM_133642.5(LARGE1):c.1706T>C (p.Met569Thr) rs561951366 0.00001
NM_133642.5(LARGE1):c.173G>A (p.Ser58Asn) rs774240856 0.00001
NM_133642.5(LARGE1):c.1799T>C (p.Leu600Pro) rs1930821948 0.00001
NM_133642.5(LARGE1):c.1933G>A (p.Ala645Thr) rs759095312 0.00001
NM_133642.5(LARGE1):c.206T>C (p.Met69Thr) rs1602977812 0.00001
NM_133642.5(LARGE1):c.2087T>C (p.Ile696Thr) rs200212868 0.00001
NM_133642.5(LARGE1):c.2228G>A (p.Gly743Asp) rs746916767 0.00001
NM_133642.5(LARGE1):c.222G>T (p.Glu74Asp) rs373261094 0.00001
NM_133642.5(LARGE1):c.2234C>A (p.Ala745Asp) rs1254409268 0.00001
NM_133642.5(LARGE1):c.2243A>G (p.Lys748Arg) rs1185896635 0.00001
NM_133642.5(LARGE1):c.227A>C (p.Asn76Thr) rs752854659 0.00001
NM_133642.5(LARGE1):c.230G>A (p.Arg77His) rs1402888044 0.00001
NM_133642.5(LARGE1):c.245A>G (p.Gln82Arg) rs774035009 0.00001
NM_133642.5(LARGE1):c.265C>G (p.Arg89Gly) rs1359437833 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.418G>A (p.Val140Ile) rs780394465 0.00001
NM_133642.5(LARGE1):c.442A>C (p.Asn148His) rs753419341 0.00001
NM_133642.5(LARGE1):c.492-3C>T rs1222657512 0.00001
NM_133642.5(LARGE1):c.492-6C>G rs762612242 0.00001
NM_133642.5(LARGE1):c.494G>A (p.Arg165Gln) rs1343483735 0.00001
NM_133642.5(LARGE1):c.506A>G (p.His169Arg) rs886057461 0.00001
NM_133642.5(LARGE1):c.510C>G (p.Phe170Leu) rs770995323 0.00001
NM_133642.5(LARGE1):c.577G>A (p.Ala193Thr) rs1349882228 0.00001
NM_133642.5(LARGE1):c.583C>T (p.Arg195Cys) rs758364338 0.00001
NM_133642.5(LARGE1):c.74C>T (p.Thr25Ile) rs773210756 0.00001
NM_133642.5(LARGE1):c.755C>T (p.Ala252Val) rs764632554 0.00001
NM_133642.5(LARGE1):c.79A>G (p.Ile27Val) rs772137666 0.00001
NM_133642.5(LARGE1):c.8G>C (p.Gly3Ala) rs780682266 0.00001
NM_133642.5(LARGE1):c.958G>A (p.Ala320Thr) rs374774937 0.00001
NC_000022.10:g.(?_33670403)_(33679344_?)del
NC_000022.10:g.(?_33670403)_(33828261_?)dup
NC_000022.10:g.(?_33960824)_(34046664_?)del
NC_000022.10:g.(?_34157338)_(34157463_?)dup
NM_133642.5(LARGE1):c.*479A>T rs886057459
NM_133642.5(LARGE1):c.*501T>C rs886057457
NM_133642.5(LARGE1):c.*639T>G rs373361875
NM_133642.5(LARGE1):c.*995T>C rs1928531659
NM_133642.5(LARGE1):c.-202C>A rs946350081
NM_133642.5(LARGE1):c.-292G>C rs886057466
NM_133642.5(LARGE1):c.-377C>G rs1218154642
NM_133642.5(LARGE1):c.1002C>A (p.Asp334Glu) rs2147134497
NM_133642.5(LARGE1):c.1005+3G>A
NM_133642.5(LARGE1):c.1005+5G>A rs1204892970
NM_133642.5(LARGE1):c.1016A>G (p.Asn339Ser)
NM_133642.5(LARGE1):c.1019C>T (p.Ala340Val)
NM_133642.5(LARGE1):c.1021G>A (p.Val341Ile)
NM_133642.5(LARGE1):c.106+3A>T
NM_133642.5(LARGE1):c.1093C>T (p.Arg365Cys) rs1361308052
NM_133642.5(LARGE1):c.1131+12_1131+13insAACAGAGGGACATCCCTGGAGGTAGGGTG rs2147112788
NM_133642.5(LARGE1):c.1131+4G>A
NM_133642.5(LARGE1):c.1138C>G (p.His380Asp) rs1938648531
NM_133642.5(LARGE1):c.115C>T (p.Pro39Ser)
NM_133642.5(LARGE1):c.1162C>T (p.Arg388Trp) rs767127452
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.1192C>T (p.Arg398Cys) rs1376994263
NM_133642.5(LARGE1):c.1196A>C (p.Asn399Thr)
NM_133642.5(LARGE1):c.1201_1202delinsCT (p.Tyr401Leu) rs1938639225
NM_133642.5(LARGE1):c.1225G>A (p.Gly409Ser) rs1555898776
NM_133642.5(LARGE1):c.122C>T (p.Ser41Phe)
NM_133642.5(LARGE1):c.1250T>G (p.Phe417Cys)
NM_133642.5(LARGE1):c.1261A>G (p.Ser421Gly) rs905900345
NM_133642.5(LARGE1):c.1272T>A (p.Asp424Glu)
NM_133642.5(LARGE1):c.1279A>G (p.Ser427Gly) rs1938625368
NM_133642.5(LARGE1):c.1287+2dup rs2146570024
NM_133642.5(LARGE1):c.1288-7C>G
NM_133642.5(LARGE1):c.1288C>G (p.Leu430Val) rs775051738
NM_133642.5(LARGE1):c.1308G>C (p.Glu436Asp)
NM_133642.5(LARGE1):c.1321G>A (p.Asp441Asn) rs915849571
NM_133642.5(LARGE1):c.1339C>T (p.Arg447Trp)
NM_133642.5(LARGE1):c.1343G>A (p.Arg448Gln) rs1064796524
NM_133642.5(LARGE1):c.1348C>T (p.Arg450Cys) rs754744384
NM_133642.5(LARGE1):c.1357G>A (p.Val453Ile)
NM_133642.5(LARGE1):c.1385A>G (p.His462Arg) rs775726150
NM_133642.5(LARGE1):c.1396G>A (p.Glu466Lys) rs774223611
NM_133642.5(LARGE1):c.140C>T (p.Ser47Phe) rs1427588155
NM_133642.5(LARGE1):c.1411A>G (p.Ser471Gly) rs1936127827
NM_133642.5(LARGE1):c.1420G>T (p.Val474Phe) rs150861748
NM_133642.5(LARGE1):c.1426C>A (p.Leu476Met) rs369168322
NM_133642.5(LARGE1):c.1433C>T (p.Ala478Val)
NM_133642.5(LARGE1):c.1457A>G (p.Gln486Arg) rs925299001
NM_133642.5(LARGE1):c.1487A>G (p.Glu496Gly)
NM_133642.5(LARGE1):c.1497C>G (p.Ile499Met)
NM_133642.5(LARGE1):c.152G>A (p.Ser51Asn) rs758152995
NM_133642.5(LARGE1):c.1549G>A (p.Ala517Thr)
NM_133642.5(LARGE1):c.1553A>C (p.Gln518Pro) rs756533976
NM_133642.5(LARGE1):c.1570A>T (p.Met524Leu) rs2146165030
NM_133642.5(LARGE1):c.1586T>C (p.Val529Ala) rs2146164640
NM_133642.5(LARGE1):c.1600G>A (p.Val534Met) rs1428533575
NM_133642.5(LARGE1):c.1601T>C (p.Val534Ala)
NM_133642.5(LARGE1):c.1612G>A (p.Gly538Ser) rs768675700
NM_133642.5(LARGE1):c.1640G>A (p.Arg547His) rs1232298989
NM_133642.5(LARGE1):c.164C>A (p.Thr55Lys)
NM_133642.5(LARGE1):c.1656G>C (p.Lys552Asn) rs138573955
NM_133642.5(LARGE1):c.1676T>A (p.Met559Lys) rs2146163535
NM_133642.5(LARGE1):c.1685C>T (p.Ser562Phe) rs2146163397
NM_133642.5(LARGE1):c.1743C>G (p.Ile581Met) rs747357315
NM_133642.5(LARGE1):c.1750G>A (p.Asp584Asn)
NM_133642.5(LARGE1):c.1759A>G (p.Asn587Asp) rs749685972
NM_133642.5(LARGE1):c.1765A>G (p.Lys589Glu) rs1602229899
NM_133642.5(LARGE1):c.176A>T (p.Gln59Leu) rs2080769500
NM_133642.5(LARGE1):c.1772C>T (p.Ala591Val)
NM_133642.5(LARGE1):c.1802G>A (p.Arg601His) rs771376144
NM_133642.5(LARGE1):c.1808G>A (p.Arg603Gln)
NM_133642.5(LARGE1):c.1846A>T (p.Met616Leu) rs781142917
NM_133642.5(LARGE1):c.1849C>A (p.Leu617Met)
NM_133642.5(LARGE1):c.185G>A (p.Arg62His)
NM_133642.5(LARGE1):c.185G>T (p.Arg62Leu) rs777156706
NM_133642.5(LARGE1):c.1862C>T (p.Thr621Ile) rs1930806932
NM_133642.5(LARGE1):c.1864C>G (p.Leu622Val)
NM_133642.5(LARGE1):c.1880A>C (p.Tyr627Ser)
NM_133642.5(LARGE1):c.188A>G (p.Glu63Gly) rs539747006
NM_133642.5(LARGE1):c.1903G>A (p.Ala635Thr) rs150325234
NM_133642.5(LARGE1):c.1927C>T (p.Arg643Trp)
NM_133642.5(LARGE1):c.1940C>T (p.Thr647Met)
NM_133642.5(LARGE1):c.1948C>T (p.Arg650Trp)
NM_133642.5(LARGE1):c.1966G>A (p.Asp656Asn)
NM_133642.5(LARGE1):c.1976C>T (p.Pro659Leu) rs778669044
NM_133642.5(LARGE1):c.1978T>C (p.Tyr660His)
NM_133642.5(LARGE1):c.1991G>C (p.Arg664Thr) rs1929475941
NM_133642.5(LARGE1):c.1998C>G (p.Asp666Glu) rs144197077
NM_133642.5(LARGE1):c.2073+12G>A rs377566674
NM_133642.5(LARGE1):c.2078A>G (p.Tyr693Cys)
NM_133642.5(LARGE1):c.2082_2105del (p.Glu694_Tyr702delinsAsp) rs1928816149
NM_133642.5(LARGE1):c.2119C>G (p.Pro707Ala)
NM_133642.5(LARGE1):c.2152C>T (p.Arg718Cys)
NM_133642.5(LARGE1):c.2153G>C (p.Arg718Pro) rs1263627262
NM_133642.5(LARGE1):c.2171G>A (p.Arg724His) rs376907568
NM_133642.5(LARGE1):c.2175C>G (p.Ile725Met) rs1928785534
NM_133642.5(LARGE1):c.2206C>G (p.Gln736Glu) rs2145801430
NM_133642.5(LARGE1):c.220G>A (p.Glu74Lys) rs757062605
NM_133642.5(LARGE1):c.2212A>G (p.Met738Val) rs1928773545
NM_133642.5(LARGE1):c.2219G>A (p.Arg740His)
NM_133642.5(LARGE1):c.2221C>T (p.Arg741Cys)
NM_133642.5(LARGE1):c.2256C>A (p.Ala752=) rs114246562
NM_133642.5(LARGE1):c.2261ACA[1] (p.Asn755del)
NM_133642.5(LARGE1):c.229C>G (p.Arg77Gly)
NM_133642.5(LARGE1):c.246G>T (p.Gln82His) rs768234422
NM_133642.5(LARGE1):c.247C>T (p.Leu83Phe) rs748795300
NM_133642.5(LARGE1):c.251G>T (p.Ser84Ile) rs398124184
NM_133642.5(LARGE1):c.254_259dup (p.Leu85_Ala86dup) rs759978690
NM_133642.5(LARGE1):c.281G>A (p.Arg94His) rs754383742
NM_133642.5(LARGE1):c.287G>A (p.Gly96Asp) rs1569341949
NM_133642.5(LARGE1):c.326G>C (p.Gly109Ala) rs2149181937
NM_133642.5(LARGE1):c.336G>T (p.Glu112Asp) rs1555983855
NM_133642.5(LARGE1):c.344G>T (p.Arg115Leu) rs755087786
NM_133642.5(LARGE1):c.366C>A (p.Asn122Lys) rs2080759268
NM_133642.5(LARGE1):c.374A>T (p.Glu125Val)
NM_133642.5(LARGE1):c.392T>C (p.Val131Ala)
NM_133642.5(LARGE1):c.394G>A (p.Val132Met) rs913704656
NM_133642.5(LARGE1):c.408+5A>G
NM_133642.5(LARGE1):c.421G>A (p.Ala141Thr)
NM_133642.5(LARGE1):c.443A>G (p.Asn148Ser)
NM_133642.5(LARGE1):c.445G>T (p.Ala149Ser)
NM_133642.5(LARGE1):c.473A>C (p.Lys158Thr)
NM_133642.5(LARGE1):c.479T>G (p.Val160Gly) rs1372134080
NM_133642.5(LARGE1):c.47T>G (p.Leu16Trp) rs2145729155
NM_133642.5(LARGE1):c.488A>G (p.His163Arg) rs2149076676
NM_133642.5(LARGE1):c.493C>T (p.Arg165Trp) rs765312193
NM_133642.5(LARGE1):c.512A>G (p.His171Arg) rs2148979441
NM_133642.5(LARGE1):c.52C>T (p.Leu18Phe)
NM_133642.5(LARGE1):c.542T>A (p.Ile181Asn) rs2079198073
NM_133642.5(LARGE1):c.569T>A (p.Met190Lys) rs2079196838
NM_133642.5(LARGE1):c.592T>A (p.Phe198Ile) rs2148978976
NM_133642.5(LARGE1):c.594C>A (p.Phe198Leu)
NM_133642.5(LARGE1):c.599A>G (p.Asn200Ser) rs2148978936
NM_133642.5(LARGE1):c.606C>G (p.Asp202Glu) rs759394642
NM_133642.5(LARGE1):c.621A>C (p.Glu207Asp) rs926834717
NM_133642.5(LARGE1):c.691C>A (p.Leu231Ile)
NM_133642.5(LARGE1):c.728C>T (p.Thr243Met)
NM_133642.5(LARGE1):c.731A>G (p.Asp244Gly)
NM_133642.5(LARGE1):c.73A>G (p.Thr25Ala) rs1556032013
NM_133642.5(LARGE1):c.746C>A (p.Thr249Asn) rs1256101536
NM_133642.5(LARGE1):c.752T>A (p.Ile251Asn) rs2077976439
NM_133642.5(LARGE1):c.784A>G (p.Lys262Glu)
NM_133642.5(LARGE1):c.856C>T (p.Arg286Cys)
NM_133642.5(LARGE1):c.872T>A (p.Leu291His)
NM_133642.5(LARGE1):c.893-9_893-8insATCCTGTGCTGCTGCCCAGGGGTG
NM_133642.5(LARGE1):c.895G>A (p.Val299Met) rs1490201857
NM_133642.5(LARGE1):c.909T>G (p.Leu303=) rs563144239
NM_133642.5(LARGE1):c.922_923delinsAA (p.Arg308Lys) rs2147135450
NM_133642.5(LARGE1):c.940C>G (p.Gln314Glu) rs559892854
NM_133642.5(LARGE1):c.942G>T (p.Gln314His) rs776701293
NM_133642.5(LARGE1):c.958G>T (p.Ala320Ser) rs374774937
NM_133642.5(LARGE1):c.969G>T (p.Glu323Asp) rs2065251813
NM_133642.5(LARGE1):c.974T>C (p.Met325Thr) rs2065251491

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.