ClinVar Miner

List of variants reported as uncertain significance for Muscular dystrophy-dystroglycanopathy type B6

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 297
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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.-480C>T rs886057469 0.00148
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.-481G>T rs537756491 0.00109
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.*998A>G rs886057455 0.00033
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.*798G>A rs778063005 0.00024
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.1892C>T (p.Thr631Met) rs368043810 0.00016
NM_133642.5(LARGE1):c.-277T>G rs886057464 0.00014
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.-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.*580C>T rs776235903 0.00004
NM_133642.5(LARGE1):c.-242C>T rs886057462 0.00004
NM_133642.5(LARGE1):c.-247T>G rs886057463 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.923G>A (p.Arg308Gln) rs773959791 0.00004
NM_133642.5(LARGE1):c.*969G>A rs892305427 0.00003
NM_133642.5(LARGE1):c.-287A>G rs886057465 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.*833A>G rs748248240 0.00002
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_017739.4(POMGNT1):c.1100G>A (p.Arg367His) rs762972459 0.00001
NM_133642.5(LARGE1):c.*1229G>A rs918504034 0.00001
NM_133642.5(LARGE1):c.-359C>G rs886057468 0.00001
NM_133642.5(LARGE1):c.-500T>C rs968923312 0.00001
NM_133642.5(LARGE1):c.-527C>T rs956387343 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.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.(?_32232938)_(34157463_?)dup
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+1218_106+5708del
NM_133642.5(LARGE1):c.106+3A>T
NM_133642.5(LARGE1):c.1093C>T (p.Arg365Cys) rs1361308052
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.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.1406C>T (p.Ala469Val)
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.151A>G (p.Ser51Gly)
NM_133642.5(LARGE1):c.152G>A (p.Ser51Asn) rs758152995
NM_133642.5(LARGE1):c.1549G>A (p.Ala517Thr)
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.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.2074G>T (p.Glu692Ter)
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.2099A>G (p.Asn700Ser)
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.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.284G>C (p.Arg95Pro)
NM_133642.5(LARGE1):c.287G>A (p.Gly96Asp) rs1569341949
NM_133642.5(LARGE1):c.322A>G (p.Thr108Ala)
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.508T>G (p.Phe170Val)
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

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