ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease dominant intermediate B by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 542
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HGVS dbSNP gnomAD frequency
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr) rs148790687 0.00121
NM_001005361.3(DNM2):c.645C>T (p.Asp215=) rs148900299 0.00028
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr) rs142963320 0.00024
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn) rs150613209 0.00023
NM_001005361.3(DNM2):c.1546-16C>T rs375554484 0.00022
NM_001005361.3(DNM2):c.1893+18G>A rs368748557 0.00020
NM_001005361.3(DNM2):c.480C>T (p.Ile160=) rs140036663 0.00017
NM_001005361.3(DNM2):c.882G>A (p.Pro294=) rs144790170 0.00017
NM_001005361.3(DNM2):c.528C>T (p.Pro176=) rs147579870 0.00015
NM_001005361.3(DNM2):c.2592C>T (p.Ala864=) rs373161548 0.00014
NM_001005361.3(DNM2):c.839C>T (p.Thr280Met) rs202155679 0.00014
NM_001005361.3(DNM2):c.957C>T (p.Pro319=) rs141911457 0.00014
NM_001005361.3(DNM2):c.1423-12G>A rs376753915 0.00013
NM_001005361.3(DNM2):c.1645T>A (p.Ser549Thr) rs144763522 0.00013
NM_001005361.3(DNM2):c.1827C>T (p.Ser609=) rs371412466 0.00013
NM_001005361.3(DNM2):c.2514C>T (p.Ile838=) rs200782592 0.00013
NM_001005361.3(DNM2):c.822G>A (p.Thr274=) rs201763720 0.00013
NM_001005361.3(DNM2):c.1422+9C>T rs199952853 0.00012
NM_001005361.3(DNM2):c.1384A>G (p.Thr462Ala) rs201575500 0.00011
NM_001005361.3(DNM2):c.315C>T (p.Thr105=) rs111837150 0.00011
NM_001005361.3(DNM2):c.316G>A (p.Asp106Asn) rs375151459 0.00011
NM_001005361.3(DNM2):c.1659C>T (p.Tyr553=) rs1399189951 0.00010
NM_001005361.3(DNM2):c.1196+18A>G rs375880464 0.00009
NM_001005361.3(DNM2):c.2253T>C (p.Pro751=) rs200155565 0.00009
NM_001005361.3(DNM2):c.2313G>A (p.Pro771=) rs147463138 0.00009
NM_001005361.3(DNM2):c.555C>T (p.Asp185=) rs140788791 0.00009
NM_001005361.3(DNM2):c.633C>T (p.Asp211=) rs200191870 0.00009
NM_001005361.3(DNM2):c.1196+652C>T rs377319162 0.00008
NM_001005361.3(DNM2):c.876G>A (p.Ser292=) rs749140605 0.00008
NM_001005361.3(DNM2):c.1377C>T (p.Ile459=) rs369345296 0.00007
NM_001005361.3(DNM2):c.1671+13C>T rs374047080 0.00007
NM_001005361.3(DNM2):c.2425A>G (p.Ile809Val) rs144133111 0.00007
NM_001005361.3(DNM2):c.385+14G>T rs768651962 0.00007
NM_001005361.3(DNM2):c.102C>A (p.Ile34=) rs552741402 0.00006
NM_001005361.3(DNM2):c.1196+628G>C rs374376619 0.00006
NM_001005361.3(DNM2):c.1196+778G>C rs763908447 0.00006
NM_001005361.3(DNM2):c.1437C>T (p.Ile479=) rs146506201 0.00006
NM_001005361.3(DNM2):c.1782-4G>A rs767424969 0.00006
NM_001005361.3(DNM2):c.2106G>C (p.Ser702=) rs554971107 0.00006
NM_001005361.3(DNM2):c.213G>A (p.Leu71=) rs375324714 0.00006
NM_001005361.3(DNM2):c.2151G>A (p.Gln717=) rs543921898 0.00006
NM_001005361.3(DNM2):c.2176T>C (p.Tyr726His) rs370459176 0.00006
NM_001005361.3(DNM2):c.312G>A (p.Glu104=) rs144970326 0.00006
NM_001005361.3(DNM2):c.90C>T (p.Asp30=) rs759919549 0.00006
NM_001005361.3(DNM2):c.1449G>A (p.Gln483=) rs750299400 0.00005
NM_001005361.3(DNM2):c.1518G>C (p.Leu506=) rs201426481 0.00005
NM_001005361.3(DNM2):c.1881C>G (p.Pro627=) rs767496363 0.00005
NM_001005361.3(DNM2):c.2074C>T (p.His692Tyr) rs752473055 0.00005
NM_001005361.3(DNM2):c.2231T>C (p.Val744Ala) rs777609224 0.00005
NM_001005361.3(DNM2):c.2312C>T (p.Pro771Leu) rs202060910 0.00005
NM_001005361.3(DNM2):c.235+10G>A rs769906659 0.00005
NM_001005361.3(DNM2):c.2500C>A (p.Arg834=) rs367898095 0.00005
NM_001005361.3(DNM2):c.384C>T (p.His128=) rs201089328 0.00005
NM_001005361.3(DNM2):c.591C>T (p.Gly197=) rs372235062 0.00005
NM_001005361.3(DNM2):c.1196+603C>T rs745481476 0.00004
NM_001005361.3(DNM2):c.1336-13C>T rs369058231 0.00004
NM_001005361.3(DNM2):c.1456A>G (p.Ile486Val) rs758246840 0.00004
NM_001005361.3(DNM2):c.162-16T>C rs573469750 0.00004
NM_001005361.3(DNM2):c.1893+17C>T rs45585238 0.00004
NM_001005361.3(DNM2):c.189C>T (p.Ile63=) rs371493258 0.00004
NM_001005361.3(DNM2):c.1965C>T (p.Thr655=) rs201972896 0.00004
NM_001005361.3(DNM2):c.2016C>T (p.Arg672=) rs368131004 0.00004
NM_001005361.3(DNM2):c.2276G>A (p.Ser759Asn) rs879254300 0.00004
NM_001005361.3(DNM2):c.2291+4C>T rs200408852 0.00004
NM_001005361.3(DNM2):c.2292-15T>A rs534518685 0.00004
NM_001005361.3(DNM2):c.2418G>A (p.Ala806=) rs200968756 0.00004
NM_001005361.3(DNM2):c.327G>A (p.Thr109=) rs369843334 0.00004
NM_001005361.3(DNM2):c.453C>T (p.Asp151=) rs201681441 0.00004
NM_001005361.3(DNM2):c.1032C>T (p.Ile344=) rs747050783 0.00003
NM_001005361.3(DNM2):c.1196+11C>T rs773099792 0.00003
NM_001005361.3(DNM2):c.1196+625C>T rs542089703 0.00003
NM_001005361.3(DNM2):c.1196+640G>A rs774748942 0.00003
NM_001005361.3(DNM2):c.1358G>A (p.Arg453Gln) rs140043676 0.00003
NM_001005361.3(DNM2):c.1423-9C>G rs371006369 0.00003
NM_001005361.3(DNM2):c.1461C>T (p.Asn487=) rs780182969 0.00003
NM_001005361.3(DNM2):c.1552A>C (p.Ile518Leu) rs753402698 0.00003
NM_001005361.3(DNM2):c.1558-13C>T rs755260650 0.00003
NM_001005361.3(DNM2):c.1558-15C>T rs946792072 0.00003
NM_001005361.3(DNM2):c.161+15C>G rs778544871 0.00003
NM_001005361.3(DNM2):c.162-9C>A rs200736669 0.00003
NM_001005361.3(DNM2):c.177C>A (p.Arg59=) rs762795230 0.00003
NM_001005361.3(DNM2):c.1837G>A (p.Val613Met) rs748286191 0.00003
NM_001005361.3(DNM2):c.1839G>T (p.Val613=) rs200146468 0.00003
NM_001005361.3(DNM2):c.1922A>G (p.Asn641Ser) rs767924770 0.00003
NM_001005361.3(DNM2):c.2031G>A (p.Lys677=) rs768285660 0.00003
NM_001005361.3(DNM2):c.2295C>T (p.Pro765=) rs1040102521 0.00003
NM_001005361.3(DNM2):c.235+9G>T rs369596325 0.00003
NM_001005361.3(DNM2):c.2376C>A (p.Pro792=) rs781478890 0.00003
NM_001005361.3(DNM2):c.2523G>T (p.Gly841=) rs1028907663 0.00003
NM_001005361.3(DNM2):c.497G>A (p.Arg166Gln) rs200002469 0.00003
NM_001005361.3(DNM2):c.750A>G (p.Ala250=) rs202214529 0.00003
NM_001005361.3(DNM2):c.792C>A (p.Ala264=) rs530978513 0.00003
NM_001005361.3(DNM2):c.850-7C>G rs778548382 0.00003
NM_001005361.3(DNM2):c.992+11C>T rs761511769 0.00003
NM_001005361.3(DNM2):c.993-14C>T rs761380478 0.00003
NM_001005361.3(DNM2):c.1041A>C (p.Ser347=) rs764163643 0.00002
NM_001005361.3(DNM2):c.1128+12C>T rs537132157 0.00002
NM_001005361.3(DNM2):c.1196+677G>A rs763986985 0.00002
NM_001005361.3(DNM2):c.1423-13C>T rs771343870 0.00002
NM_001005361.3(DNM2):c.1434G>A (p.Leu478=) rs901295320 0.00002
NM_001005361.3(DNM2):c.1494-20T>C rs1422154859 0.00002
NM_001005361.3(DNM2):c.1536C>T (p.Ile512=) rs753490566 0.00002
NM_001005361.3(DNM2):c.1558-12G>A rs200691041 0.00002
NM_001005361.3(DNM2):c.1641C>A (p.Ala547=) rs538253489 0.00002
NM_001005361.3(DNM2):c.1671+14G>A rs767768534 0.00002
NM_001005361.3(DNM2):c.1836C>T (p.Asp612=) rs767061986 0.00002
NM_001005361.3(DNM2):c.1873G>A (p.Val625Ile) rs759242886 0.00002
NM_001005361.3(DNM2):c.1893+19C>A rs1327397775 0.00002
NM_001005361.3(DNM2):c.2208C>T (p.Ile736=) rs755163979 0.00002
NM_001005361.3(DNM2):c.2337C>A (p.Gly779=) rs759073717 0.00002
NM_001005361.3(DNM2):c.2562G>A (p.Ala854=) rs761141093 0.00002
NM_001005361.3(DNM2):c.525G>A (p.Thr175=) rs748120401 0.00002
NM_001005361.3(DNM2):c.552C>T (p.Ser184=) rs769028557 0.00002
NM_001005361.3(DNM2):c.654C>T (p.Asp218=) rs763948283 0.00002
NM_001005361.3(DNM2):c.678G>A (p.Pro226=) rs746637292 0.00002
NM_001005361.3(DNM2):c.747T>C (p.Arg249=) rs144331982 0.00002
NM_001005361.3(DNM2):c.801C>T (p.His267=) rs780755800 0.00002
NM_001005361.3(DNM2):c.849+20G>A rs995166192 0.00002
NM_001005361.3(DNM2):c.992+12G>A rs374572993 0.00002
NM_001005361.3(DNM2):c.1062G>A (p.Leu354=) rs1294460166 0.00001
NM_001005361.3(DNM2):c.1071C>T (p.Ser357=) rs779241319 0.00001
NM_001005361.3(DNM2):c.1095C>A (p.Ile365=) rs746959606 0.00001
NM_001005361.3(DNM2):c.1101C>T (p.His367=) rs768651920 0.00001
NM_001005361.3(DNM2):c.1110C>T (p.Phe370=) rs201700534 0.00001
NM_001005361.3(DNM2):c.1128+13G>A rs772437963 0.00001
NM_001005361.3(DNM2):c.1128+7C>G rs772959277 0.00001
NM_001005361.3(DNM2):c.1129-6T>C rs1190685421 0.00001
NM_001005361.3(DNM2):c.1146G>A (p.Lys382=) rs1568305184 0.00001
NM_001005361.3(DNM2):c.1196+606G>C rs1166607845 0.00001
NM_001005361.3(DNM2):c.1196+613C>T rs530195152 0.00001
NM_001005361.3(DNM2):c.1196+676C>T rs115439545 0.00001
NM_001005361.3(DNM2):c.1196+703A>G rs1460963465 0.00001
NM_001005361.3(DNM2):c.1196+709C>T rs1459325416 0.00001
NM_001005361.3(DNM2):c.1196+754C>T rs2071926755 0.00001
NM_001005361.3(DNM2):c.1196+771C>T rs775754391 0.00001
NM_001005361.3(DNM2):c.1196+774G>A rs1466821447 0.00001
NM_001005361.3(DNM2):c.126C>T (p.Ala42=) rs1425173670 0.00001
NM_001005361.3(DNM2):c.1336-20C>T rs376646009 0.00001
NM_001005361.3(DNM2):c.1380C>T (p.Val460=) rs2072021814 0.00001
NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln) rs776126973 0.00001
NM_001005361.3(DNM2):c.1413G>A (p.Thr471=) rs2072022940 0.00001
NM_001005361.3(DNM2):c.1423-4C>T rs552776205 0.00001
NM_001005361.3(DNM2):c.1440C>T (p.Asp480=) rs374655671 0.00001
NM_001005361.3(DNM2):c.1464G>A (p.Thr488=) rs780514532 0.00001
NM_001005361.3(DNM2):c.1482C>T (p.Ile494=) rs377458236 0.00001
NM_001005361.3(DNM2):c.1494-14T>C rs763211821 0.00001
NM_001005361.3(DNM2):c.1494-16_1494-13del rs1007553660 0.00001
NM_001005361.3(DNM2):c.1494-18T>A rs1165508486 0.00001
NM_001005361.3(DNM2):c.1512G>A (p.Thr504=) rs767407905 0.00001
NM_001005361.3(DNM2):c.1530A>G (p.Arg510=) rs755640122 0.00001
NM_001005361.3(DNM2):c.1533C>T (p.Ala511=) rs368598401 0.00001
NM_001005361.3(DNM2):c.1545+17C>T rs943090537 0.00001
NM_001005361.3(DNM2):c.1545+9C>A rs1457554222 0.00001
NM_001005361.3(DNM2):c.1554C>T (p.Ile518=) rs1392112344 0.00001
NM_001005361.3(DNM2):c.1555C>T (p.Leu519=) rs756735960 0.00001
NM_001005361.3(DNM2):c.1558-5C>A rs777800520 0.00001
NM_001005361.3(DNM2):c.1558-9T>G rs748026953 0.00001
NM_001005361.3(DNM2):c.1578G>T (p.Leu526=) rs774068020 0.00001
NM_001005361.3(DNM2):c.1608C>T (p.Gly536=) rs774973372 0.00001
NM_001005361.3(DNM2):c.162-13C>T rs779337610 0.00001
NM_001005361.3(DNM2):c.162-6del rs766449694 0.00001
NM_001005361.3(DNM2):c.1676A>G (p.Lys559Arg) rs886043756 0.00001
NM_001005361.3(DNM2):c.1716C>A (p.Ile572=) rs776999450 0.00001
NM_001005361.3(DNM2):c.1752C>T (p.His584=) rs552850014 0.00001
NM_001005361.3(DNM2):c.1758C>T (p.Phe586=) rs766274376 0.00001
NM_001005361.3(DNM2):c.1773G>A (p.Thr591=) rs201604679 0.00001
NM_001005361.3(DNM2):c.1781+12del rs1377722258 0.00001
NM_001005361.3(DNM2):c.1781+16G>T rs752355749 0.00001
NM_001005361.3(DNM2):c.1781+7G>A rs780683090 0.00001
NM_001005361.3(DNM2):c.1782-6C>T rs963604980 0.00001
NM_001005361.3(DNM2):c.1785C>T (p.Asn595=) rs755603323 0.00001
NM_001005361.3(DNM2):c.1798C>T (p.Leu600=) rs753491707 0.00001
NM_001005361.3(DNM2):c.1809C>T (p.Ile603=) rs780409124 0.00001
NM_001005361.3(DNM2):c.183A>G (p.Ser61=) rs149555942 0.00001
NM_001005361.3(DNM2):c.1851G>A (p.Lys617=) rs2073060033 0.00001
NM_001005361.3(DNM2):c.1857G>A (p.Ser619=) rs377009386 0.00001
NM_001005361.3(DNM2):c.1872C>T (p.Gly624=) rs774256221 0.00001
NM_001005361.3(DNM2):c.1893+10C>T rs147321173 0.00001
NM_001005361.3(DNM2):c.1893+11G>A rs763530224 0.00001
NM_001005361.3(DNM2):c.1893+14C>A rs2073062600 0.00001
NM_001005361.3(DNM2):c.1894-8G>A rs558330407 0.00001
NM_001005361.3(DNM2):c.1894-9C>T rs377410182 0.00001
NM_001005361.3(DNM2):c.1905G>A (p.Glu635=) rs764989412 0.00001
NM_001005361.3(DNM2):c.1907A>G (p.Asp636Gly) rs749994173 0.00001
NM_001005361.3(DNM2):c.1944A>G (p.Gln648=) rs541331101 0.00001
NM_001005361.3(DNM2):c.1989C>T (p.Tyr663=) rs754264521 0.00001
NM_001005361.3(DNM2):c.2059-4G>A rs755212019 0.00001
NM_001005361.3(DNM2):c.2097A>G (p.Leu699=) rs572608190 0.00001
NM_001005361.3(DNM2):c.2100C>T (p.Tyr700=) rs756845145 0.00001
NM_001005361.3(DNM2):c.2105C>T (p.Ser702Leu) rs745382488 0.00001
NM_001005361.3(DNM2):c.2107G>A (p.Ala703Thr) rs1299975305 0.00001
NM_001005361.3(DNM2):c.216G>A (p.Gln72=) rs368075301 0.00001
NM_001005361.3(DNM2):c.2178C>T (p.Tyr726=) rs1022616200 0.00001
NM_001005361.3(DNM2):c.2196G>A (p.Ala732=) rs778166280 0.00001
NM_001005361.3(DNM2):c.219C>A (p.Leu73=) rs372012614 0.00001
NM_001005361.3(DNM2):c.2223C>T (p.Thr741=) rs1417413636 0.00001
NM_001005361.3(DNM2):c.2229T>C (p.Thr743=) rs201162827 0.00001
NM_001005361.3(DNM2):c.2238G>A (p.Thr746=) rs370550750 0.00001
NM_001005361.3(DNM2):c.2256C>T (p.Val752=) rs751020224 0.00001
NM_001005361.3(DNM2):c.2271C>T (p.Leu757=) rs749699725 0.00001
NM_001005361.3(DNM2):c.2277C>T (p.Ser759=) rs757565933 0.00001
NM_001005361.3(DNM2):c.235+13G>A rs201274056 0.00001
NM_001005361.3(DNM2):c.236-18T>C rs1471986058 0.00001
NM_001005361.3(DNM2):c.236-20C>T rs920150388 0.00001
NM_001005361.3(DNM2):c.2363C>T (p.Thr788Ile) rs763624831 0.00001
NM_001005361.3(DNM2):c.2370G>C (p.Gly790=) rs750852426 0.00001
NM_001005361.3(DNM2):c.2391C>T (p.Pro797=) rs777834732 0.00001
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu) rs779081943 0.00001
NM_001005361.3(DNM2):c.2430A>G (p.Pro810=) rs1234478593 0.00001
NM_001005361.3(DNM2):c.243C>T (p.Ala81=) rs755366581 0.00001
NM_001005361.3(DNM2):c.246G>A (p.Glu82=) rs781609353 0.00001
NM_001005361.3(DNM2):c.2526T>C (p.Ile842=) rs1173105671 0.00001
NM_001005361.3(DNM2):c.2544-17C>G rs945329439 0.00001
NM_001005361.3(DNM2):c.2544-19G>A rs769617279 0.00001
NM_001005361.3(DNM2):c.2553C>T (p.Pro851=) rs767922836 0.00001
NM_001005361.3(DNM2):c.2602C>T (p.Leu868=) rs754910531 0.00001
NM_001005361.3(DNM2):c.267A>G (p.Lys89=) rs748666756 0.00001
NM_001005361.3(DNM2):c.270G>A (p.Lys90=) rs2071015900 0.00001
NM_001005361.3(DNM2):c.297G>A (p.Gln99=) rs896254945 0.00001
NM_001005361.3(DNM2):c.30C>T (p.Ile10=) rs1249596675 0.00001
NM_001005361.3(DNM2):c.33G>A (p.Pro11=) rs779502758 0.00001
NM_001005361.3(DNM2):c.360C>T (p.Ile120=) rs1057329372 0.00001
NM_001005361.3(DNM2):c.385+13G>C rs377633348 0.00001
NM_001005361.3(DNM2):c.402C>T (p.Leu134=) rs748069348 0.00001
NM_001005361.3(DNM2):c.417T>A (p.Gly139=) rs1251651902 0.00001
NM_001005361.3(DNM2):c.456C>T (p.Ile152=) rs763409114 0.00001
NM_001005361.3(DNM2):c.471G>A (p.Lys157=) rs757708760 0.00001
NM_001005361.3(DNM2):c.579C>T (p.Val193=) rs201924777 0.00001
NM_001005361.3(DNM2):c.57C>T (p.Ala19=) rs1599402522 0.00001
NM_001005361.3(DNM2):c.589+19C>A rs767859111 0.00001
NM_001005361.3(DNM2):c.592C>T (p.Leu198=) rs770036756 0.00001
NM_001005361.3(DNM2):c.594A>G (p.Leu198=) rs773813749 0.00001
NM_001005361.3(DNM2):c.625C>T (p.Leu209=) rs927749691 0.00001
NM_001005361.3(DNM2):c.637G>T (p.Gly213Cys) rs767908123 0.00001
NM_001005361.3(DNM2):c.639C>T (p.Gly213=) rs1314677389 0.00001
NM_001005361.3(DNM2):c.63C>T (p.Ser21=) rs763443182 0.00001
NM_001005361.3(DNM2):c.642C>T (p.Thr214=) rs752944817 0.00001
NM_001005361.3(DNM2):c.681G>A (p.Leu227=) rs770225926 0.00001
NM_001005361.3(DNM2):c.688+14G>T rs367743010 0.00001
NM_001005361.3(DNM2):c.688+7C>T rs1031505173 0.00001
NM_001005361.3(DNM2):c.689-12C>T rs764555297 0.00001
NM_001005361.3(DNM2):c.699C>T (p.Gly233=) rs751844947 0.00001
NM_001005361.3(DNM2):c.807C>T (p.Ala269=) rs752361306 0.00001
NM_001005361.3(DNM2):c.819C>T (p.Gly273=) rs1464745378 0.00001
NM_001005361.3(DNM2):c.81C>T (p.Cys27=) rs534605878 0.00001
NM_001005361.3(DNM2):c.849+9A>G rs776761320 0.00001
NM_001005361.3(DNM2):c.858C>G (p.Thr286=) rs542637338 0.00001
NM_001005361.3(DNM2):c.884C>T (p.Ala295Val) rs766950025 0.00001
NM_001005361.3(DNM2):c.891T>G (p.Arg297=) rs1447417104 0.00001
NM_001005361.3(DNM2):c.900A>G (p.Leu300=) rs1599552753 0.00001
NM_001005361.3(DNM2):c.906C>T (p.Ser302=) rs1314241405 0.00001
NM_001005361.3(DNM2):c.915G>A (p.Leu305=) rs773624569 0.00001
NM_001005361.3(DNM2):c.960C>T (p.Asp320=) rs774137901 0.00001
NM_001005361.3(DNM2):c.990G>A (p.Leu330=) rs1386181817 0.00001
NM_001005361.3(DNM2):c.992+13G>A rs751885259 0.00001
NM_001005361.3(DNM2):c.992+8C>T rs776457890 0.00001
NM_001005361.3(DNM2):c.993-5C>T rs1465269872 0.00001
NM_001005361.3(DNM2):c.105T>A (p.Ala35=) rs760980172
NM_001005361.3(DNM2):c.1074G>T (p.Gly358=) rs750577663
NM_001005361.3(DNM2):c.1086C>T (p.Ile362=) rs2146014183
NM_001005361.3(DNM2):c.1092C>T (p.Arg364=) rs2146014258
NM_001005361.3(DNM2):c.1095C>T (p.Ile365=) rs746959606
NM_001005361.3(DNM2):c.1128+10C>A rs1010041153
NM_001005361.3(DNM2):c.1128+10C>T
NM_001005361.3(DNM2):c.1128+11_1128+12del
NM_001005361.3(DNM2):c.1128+12C>G rs537132157
NM_001005361.3(DNM2):c.1128+13_1128+14insA rs1353252279
NM_001005361.3(DNM2):c.1128+15G>T rs2146014756
NM_001005361.3(DNM2):c.1128+16G>T rs775764080
NM_001005361.3(DNM2):c.1131G>A (p.Met377Ile) rs2146022673
NM_001005361.3(DNM2):c.1140C>T (p.Asp380=)
NM_001005361.3(DNM2):c.114C>A (p.Gly38=) rs1266406781
NM_001005361.3(DNM2):c.1167C>T (p.Ser389=) rs2146022764
NM_001005361.3(DNM2):c.1170T>C (p.Tyr390=) rs765373844
NM_001005361.3(DNM2):c.1188T>C (p.His396=) rs1039592560
NM_001005361.3(DNM2):c.1191A>C (p.Gly397=) rs2071897478
NM_001005361.3(DNM2):c.1196+13A>G rs2513232157
NM_001005361.3(DNM2):c.1196+615G>A rs2513236179
NM_001005361.3(DNM2):c.1196+628G>T rs374376619
NM_001005361.3(DNM2):c.1196+634C>T rs2146025884
NM_001005361.3(DNM2):c.1196+646G>A rs2513236289
NM_001005361.3(DNM2):c.1196+655G>A rs752497841
NM_001005361.3(DNM2):c.1196+658C>T rs1599569966
NM_001005361.3(DNM2):c.1196+661T>C
NM_001005361.3(DNM2):c.1196+670G>A
NM_001005361.3(DNM2):c.1196+676C>G rs115439545
NM_001005361.3(DNM2):c.1196+698C>T rs879253980
NM_001005361.3(DNM2):c.1196+700G>A rs1162156222
NM_001005361.3(DNM2):c.1196+715G>A rs1338938129
NM_001005361.3(DNM2):c.1196+730A>G rs1599570127
NM_001005361.3(DNM2):c.1196+751T>C rs2513236771
NM_001005361.3(DNM2):c.1196+770C>T rs2513236836
NM_001005361.3(DNM2):c.1196+775G>A rs2071927275
NM_001005361.3(DNM2):c.1196+775G>T
NM_001005361.3(DNM2):c.1196+7del rs768397600
NM_001005361.3(DNM2):c.1336-10G>T rs2146038714
NM_001005361.3(DNM2):c.1336-19A>G
NM_001005361.3(DNM2):c.1336-5C>T rs2513247807
NM_001005361.3(DNM2):c.1344C>T (p.Ser448=) rs752934029
NM_001005361.3(DNM2):c.1350C>T (p.Pro450=)
NM_001005361.3(DNM2):c.1354T>C (p.Leu452=) rs770599060
NM_001005361.3(DNM2):c.1356G>A (p.Leu452=) rs2072021007
NM_001005361.3(DNM2):c.1365G>A (p.Glu455=) rs2146038840
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=) rs745748213
NM_001005361.3(DNM2):c.1389C>T (p.Tyr463=) rs1173436457
NM_001005361.3(DNM2):c.1392C>A (p.Ile464=) rs2146038976
NM_001005361.3(DNM2):c.1401G>A (p.Arg467=)
NM_001005361.3(DNM2):c.1422+17T>C rs371841391
NM_001005361.3(DNM2):c.1422+8_1422+14del rs2146039160
NM_001005361.3(DNM2):c.1423-8T>C rs1599583116
NM_001005361.3(DNM2):c.1425T>C (p.Ile475=) rs375483999
NM_001005361.3(DNM2):c.142C>T (p.Leu48=) rs753989925
NM_001005361.3(DNM2):c.1455C>T (p.Tyr485=) rs2513267308
NM_001005361.3(DNM2):c.1464G>C (p.Thr488=)
NM_001005361.3(DNM2):c.1482C>A (p.Ile494=) rs377458236
NM_001005361.3(DNM2):c.1485G>T (p.Gly495=) rs1272308250
NM_001005361.3(DNM2):c.1493+14G>A rs2513267495
NM_001005361.3(DNM2):c.1493+18C>T rs1210171530
NM_001005361.3(DNM2):c.1493+7A>G rs2072182650
NM_001005361.3(DNM2):c.1494-15G>T rs2513281112
NM_001005361.3(DNM2):c.1494-6T>C rs2146080287
NM_001005361.3(DNM2):c.1506G>A (p.Arg502=) rs2513281171
NM_001005361.3(DNM2):c.1512G>C (p.Thr504=)
NM_001005361.3(DNM2):c.1542T>C (p.Asn514=)
NM_001005361.3(DNM2):c.1545+11C>T rs1555712626
NM_001005361.3(DNM2):c.1545+14C>T rs114713494
NM_001005361.3(DNM2):c.1545+17C>A rs943090537
NM_001005361.3(DNM2):c.1545+18del rs2146080581
NM_001005361.3(DNM2):c.1545+7C>A rs1201489640
NM_001005361.3(DNM2):c.1546-18A>C rs1426762153
NM_001005361.3(DNM2):c.1548G>A (p.Gly516=)
NM_001005361.3(DNM2):c.1557+10_1557+15dup rs2146093632
NM_001005361.3(DNM2):c.1557+20G>A rs2072435211
NM_001005361.3(DNM2):c.1557+9A>T rs778469445
NM_001005361.3(DNM2):c.1558-11C>A rs2513304142
NM_001005361.3(DNM2):c.1558-14G>A
NM_001005361.3(DNM2):c.1558-16G>A rs751784829
NM_001005361.3(DNM2):c.1558-16G>T rs751784829
NM_001005361.3(DNM2):c.1558-5C>T rs777800520
NM_001005361.3(DNM2):c.1584C>T (p.Ile528=) rs935512495
NM_001005361.3(DNM2):c.161+11G>A
NM_001005361.3(DNM2):c.161+12_161+29dup rs750378486
NM_001005361.3(DNM2):c.161+14G>A rs2512931917
NM_001005361.3(DNM2):c.161+7G>T rs2145638077
NM_001005361.3(DNM2):c.162-15C>T rs902418908
NM_001005361.3(DNM2):c.162-7C>G rs148318860
NM_001005361.3(DNM2):c.162-7C>T rs148318860
NM_001005361.3(DNM2):c.162-8C>A rs747484495
NM_001005361.3(DNM2):c.162-8C>G rs747484495
NM_001005361.3(DNM2):c.162-8C>T rs747484495
NM_001005361.3(DNM2):c.162-9C>G rs200736669
NM_001005361.3(DNM2):c.162-9C>T rs200736669
NM_001005361.3(DNM2):c.1641C>T (p.Ala547=) rs538253489
NM_001005361.3(DNM2):c.1671+16G>T rs752824768
NM_001005361.3(DNM2):c.1671+18G>T rs2146112377
NM_001005361.3(DNM2):c.1672-13C>T rs2513333186
NM_001005361.3(DNM2):c.1672-16T>C rs368815502
NM_001005361.3(DNM2):c.1672-16_1672-15del rs2513333153
NM_001005361.3(DNM2):c.1672-19_1672-16del rs771706714
NM_001005361.3(DNM2):c.1686G>A (p.Lys562=) rs2513333309
NM_001005361.3(DNM2):c.168C>T (p.Phe56=) rs2513091746
NM_001005361.3(DNM2):c.1699C>T (p.Leu567=) rs1477679266
NM_001005361.3(DNM2):c.1725G>A (p.Val575=) rs1322970848
NM_001005361.3(DNM2):c.1731G>A (p.Lys577=) rs35365412
NM_001005361.3(DNM2):c.1734C>T (p.Gly578=) rs765544231
NM_001005361.3(DNM2):c.174C>T (p.Pro58=) rs773480707
NM_001005361.3(DNM2):c.177C>T (p.Arg59=) rs762795230
NM_001005361.3(DNM2):c.1781+10C>G rs2513333656
NM_001005361.3(DNM2):c.1781+13G>A rs1316933028
NM_001005361.3(DNM2):c.1781+14G>A rs2513333702
NM_001005361.3(DNM2):c.1781+19T>C
NM_001005361.3(DNM2):c.1782-10C>A rs1568321025
NM_001005361.3(DNM2):c.1782-11C>A rs78580529
NM_001005361.3(DNM2):c.1782-16C>T rs2073057242
NM_001005361.3(DNM2):c.1782-4G>C rs767424969
NM_001005361.3(DNM2):c.1782-5C>G
NM_001005361.3(DNM2):c.1782-7C>A rs200843089
NM_001005361.3(DNM2):c.1782-7C>G rs200843089
NM_001005361.3(DNM2):c.1782-7C>T rs200843089
NM_001005361.3(DNM2):c.1881C>T (p.Pro627=) rs767496363
NM_001005361.3(DNM2):c.1893+10C>A rs147321173
NM_001005361.3(DNM2):c.1893+9C>T rs2513349133
NM_001005361.3(DNM2):c.1894-11C>A rs2146187647
NM_001005361.3(DNM2):c.1894-12T>G rs2073097418
NM_001005361.3(DNM2):c.1894-13C>T
NM_001005361.3(DNM2):c.1894-13_1894-12insA rs2513354427
NM_001005361.3(DNM2):c.1923C>T (p.Asn641=) rs753267618
NM_001005361.3(DNM2):c.1971C>T (p.Arg657=) rs559056873
NM_001005361.3(DNM2):c.1977G>A (p.Leu659=) rs2513354937
NM_001005361.3(DNM2):c.1977G>T (p.Leu659=)
NM_001005361.3(DNM2):c.1992G>C (p.Val664=) rs2513354984
NM_001005361.3(DNM2):c.1995C>T (p.Ala665=) rs2073100795
NM_001005361.3(DNM2):c.2034C>G (p.Thr678=) rs2513355200
NM_001005361.3(DNM2):c.2058+20T>C
NM_001005361.3(DNM2):c.2059-13C>A rs2073244936
NM_001005361.3(DNM2):c.2059-8G>A rs1217572149
NM_001005361.3(DNM2):c.2061G>T (p.Thr687=) rs149164657
NM_001005361.3(DNM2):c.2064G>A (p.Lys688=) rs930737609
NM_001005361.3(DNM2):c.2079C>T (p.His693=) rs777872270
NM_001005361.3(DNM2):c.2095C>T (p.Leu699=) rs2513371520
NM_001005361.3(DNM2):c.2106G>A (p.Ser702=) rs554971107
NM_001005361.3(DNM2):c.2106G>T (p.Ser702=) rs554971107
NM_001005361.3(DNM2):c.210T>C (p.Ile70=) rs878854149
NM_001005361.3(DNM2):c.2121C>T (p.Ser707=) rs2513371686
NM_001005361.3(DNM2):c.2133G>A (p.Glu711=) rs773712386
NM_001005361.3(DNM2):c.2136G>A (p.Ser712=) rs1555716924
NM_001005361.3(DNM2):c.2136G>T (p.Ser712=) rs1555716924
NM_001005361.3(DNM2):c.2139T>G (p.Ala713=) rs2229920
NM_001005361.3(DNM2):c.213G>T (p.Leu71=)
NM_001005361.3(DNM2):c.2157G>A (p.Arg719=) rs2073248283
NM_001005361.3(DNM2):c.2163C>T (p.Asp721=) rs770491381
NM_001005361.3(DNM2):c.222C>A (p.Ile74=)
NM_001005361.3(DNM2):c.2235C>T (p.Ser745=) rs2146205946
NM_001005361.3(DNM2):c.2238G>T (p.Thr746=) rs370550750
NM_001005361.3(DNM2):c.2250G>A (p.Pro750=) rs1446564477
NM_001005361.3(DNM2):c.2253T>G (p.Pro751=) rs200155565
NM_001005361.3(DNM2):c.2259T>C (p.Asp753=) rs2513372293
NM_001005361.3(DNM2):c.2291+16T>G rs2146206194
NM_001005361.3(DNM2):c.2291+19C>T rs1397590460
NM_001005361.3(DNM2):c.2292-12C>T rs752304369
NM_001005361.3(DNM2):c.2292-16C>G rs2073285352
NM_001005361.3(DNM2):c.2292-18C>A rs2513376422
NM_001005361.3(DNM2):c.2292-7C>G rs2073285852
NM_001005361.3(DNM2):c.2292-7C>T rs2073285852
NM_001005361.3(DNM2):c.2316G>A (p.Val772=)
NM_001005361.3(DNM2):c.2328C>T (p.His776=) rs766387630
NM_001005361.3(DNM2):c.2334T>C (p.Pro778=) rs2146209802
NM_001005361.3(DNM2):c.2340G>T (p.Arg780=) rs766944681
NM_001005361.3(DNM2):c.2349A>T (p.Ala783=) rs2073288189
NM_001005361.3(DNM2):c.235+12C>G rs147026993
NM_001005361.3(DNM2):c.235+12C>T rs147026993
NM_001005361.3(DNM2):c.235+13G>T rs201274056
NM_001005361.3(DNM2):c.235+14G>A rs2145855889
NM_001005361.3(DNM2):c.2352G>A (p.Val784=) rs2146209880
NM_001005361.3(DNM2):c.2358C>T (p.Gly786=) rs2073288383
NM_001005361.3(DNM2):c.236-10C>A rs1478094557
NM_001005361.3(DNM2):c.236-19A>G
NM_001005361.3(DNM2):c.2364T>C (p.Thr788=) rs2513376994
NM_001005361.3(DNM2):c.2397G>T (p.Gly799=) rs759407101
NM_001005361.3(DNM2):c.2406C>T (p.Ala802=) rs2146210111
NM_001005361.3(DNM2):c.2415G>A (p.Ser805=)
NM_001005361.3(DNM2):c.243C>G (p.Ala81=) rs755366581
NM_001005361.3(DNM2):c.2443C>T (p.Pro815Ser) rs1438459794
NM_001005361.3(DNM2):c.2448G>A (p.Gln816=) rs1325496934
NM_001005361.3(DNM2):c.2451C>T (p.Ser817=) rs751961437
NM_001005361.3(DNM2):c.2466T>C (p.Ser822=) rs781754305
NM_001005361.3(DNM2):c.2472C>G (p.Leu824=) rs2146210362
NM_001005361.3(DNM2):c.2496A>T (p.Pro832=)
NM_001005361.3(DNM2):c.2499T>C (p.Ser833=) rs2513377731
NM_001005361.3(DNM2):c.2526T>A (p.Ile842=) rs1173105671
NM_001005361.3(DNM2):c.2543+17G>A
NM_001005361.3(DNM2):c.2543+18C>T
NM_001005361.3(DNM2):c.2543+20C>G
NM_001005361.3(DNM2):c.2544-12T>C rs2513382826
NM_001005361.3(DNM2):c.2544-15T>C rs2513382794
NM_001005361.3(DNM2):c.2544-20T>C
NM_001005361.3(DNM2):c.2571G>A (p.Arg857=) rs2073331497
NM_001005361.3(DNM2):c.2577C>T (p.Thr859=) rs2146214089
NM_001005361.3(DNM2):c.2583C>A (p.Ile861=) rs1303085497
NM_001005361.3(DNM2):c.2589A>C (p.Pro863=) rs1555717448
NM_001005361.3(DNM2):c.2592C>A (p.Ala864=) rs373161548
NM_001005361.3(DNM2):c.25C>T (p.Leu9=)
NM_001005361.3(DNM2):c.2607C>A (p.Leu869=) rs144472798
NM_001005361.3(DNM2):c.2607C>G (p.Leu869=) rs144472798
NM_001005361.3(DNM2):c.2607C>T (p.Leu869=) rs144472798
NM_001005361.3(DNM2):c.282T>C (p.Phe94=) rs1294440413
NM_001005361.3(DNM2):c.294G>A (p.Arg98=) rs2145911472
NM_001005361.3(DNM2):c.33G>T (p.Pro11=) rs779502758
NM_001005361.3(DNM2):c.354G>A (p.Val118=) rs2513139993
NM_001005361.3(DNM2):c.369A>C (p.Arg123=)
NM_001005361.3(DNM2):c.385+11C>T
NM_001005361.3(DNM2):c.394T>C (p.Leu132=) rs2145924405
NM_001005361.3(DNM2):c.399C>T (p.Thr133=)
NM_001005361.3(DNM2):c.429G>A (p.Val143=) rs769461123
NM_001005361.3(DNM2):c.429G>T (p.Val143=) rs769461123
NM_001005361.3(DNM2):c.438C>T (p.Gly146=) rs772730983
NM_001005361.3(DNM2):c.45A>G (p.Lys15=) rs2145637652
NM_001005361.3(DNM2):c.46C>T (p.Leu16=) rs2145637657
NM_001005361.3(DNM2):c.486G>A (p.Gln162=) rs1271034791
NM_001005361.3(DNM2):c.48G>A (p.Leu16=) rs746688611
NM_001005361.3(DNM2):c.501G>A (p.Glu167=) rs751712223
NM_001005361.3(DNM2):c.507C>T (p.Ser169=) rs754861829
NM_001005361.3(DNM2):c.514C>T (p.Leu172=) rs1599530007
NM_001005361.3(DNM2):c.561C>T (p.Leu187=) rs1599530095
NM_001005361.3(DNM2):c.570C>A (p.Ala190=) rs762315864
NM_001005361.3(DNM2):c.573G>A (p.Lys191=) rs2071136034
NM_001005361.3(DNM2):c.579C>G (p.Val193=) rs201924777
NM_001005361.3(DNM2):c.589+10A>G rs2145924891
NM_001005361.3(DNM2):c.589+13C>T rs2145924904
NM_001005361.3(DNM2):c.589+17G>A rs374377836
NM_001005361.3(DNM2):c.590-14C>T rs2071181078
NM_001005361.3(DNM2):c.603C>A (p.Ile201=) rs980931289
NM_001005361.3(DNM2):c.642C>G (p.Thr214=) rs752944817
NM_001005361.3(DNM2):c.648C>T (p.Ala216=) rs1060504950
NM_001005361.3(DNM2):c.66C>T (p.Ser22=) rs906211174
NM_001005361.3(DNM2):c.688+11G>A rs2071183855
NM_001005361.3(DNM2):c.688+12G>A rs557057188
NM_001005361.3(DNM2):c.688+12G>C
NM_001005361.3(DNM2):c.688+12G>T rs557057188
NM_001005361.3(DNM2):c.688+17G>C
NM_001005361.3(DNM2):c.689-19T>C rs746698179
NM_001005361.3(DNM2):c.695T>A (p.Ile232Asn) rs749672066
NM_001005361.3(DNM2):c.69C>A (p.Ile23=) rs1213386129
NM_001005361.3(DNM2):c.717G>A (p.Gln239=) rs2513182904
NM_001005361.3(DNM2):c.72C>T (p.Gly24=) rs2068819928
NM_001005361.3(DNM2):c.732C>G (p.Gly244=) rs2513182923
NM_001005361.3(DNM2):c.744C>A (p.Ile248=) rs572493411
NM_001005361.3(DNM2):c.744C>T (p.Ile248=) rs572493411
NM_001005361.3(DNM2):c.756G>A (p.Leu252=) rs1422139221
NM_001005361.3(DNM2):c.759A>C (p.Ala253=)
NM_001005361.3(DNM2):c.771G>A (p.Lys257=) rs2145960350
NM_001005361.3(DNM2):c.778C>A (p.Leu260Ile) rs145607989
NM_001005361.3(DNM2):c.789G>C (p.Pro263=) rs199976453
NM_001005361.3(DNM2):c.795C>T (p.Tyr265=)
NM_001005361.3(DNM2):c.837G>A (p.Lys279=) rs2145960645
NM_001005361.3(DNM2):c.849+19C>T rs558595804
NM_001005361.3(DNM2):c.849+7C>T rs2071433383
NM_001005361.3(DNM2):c.849+8A>C rs2145960743
NM_001005361.3(DNM2):c.850-13CT[2] rs1404422473
NM_001005361.3(DNM2):c.850-3C>T rs747522254
NM_001005361.3(DNM2):c.850-6C>T
NM_001005361.3(DNM2):c.876G>T (p.Ser292=) rs749140605
NM_001005361.3(DNM2):c.879G>C (p.Leu293=)
NM_001005361.3(DNM2):c.885C>G (p.Ala295=)
NM_001005361.3(DNM2):c.888A>G (p.Leu296=)
NM_001005361.3(DNM2):c.91C>T (p.Leu31=) rs2512931576
NM_001005361.3(DNM2):c.930G>A (p.Glu310=) rs1599552792
NM_001005361.3(DNM2):c.936G>A (p.Glu312=) rs949106319
NM_001005361.3(DNM2):c.96G>T (p.Pro32=) rs767726067
NM_001005361.3(DNM2):c.987G>C (p.Leu329=) rs761023896
NM_001005361.3(DNM2):c.988C>T (p.Leu330=) rs2145978278
NM_001005361.3(DNM2):c.992+13del rs1417439819
NM_001005361.3(DNM2):c.992+14C>T rs755293939
NM_001005361.3(DNM2):c.992+17CCA[4] rs758857697
NM_001005361.3(DNM2):c.992+17CCA[6] rs758857697
NM_001005361.3(DNM2):c.992+19A>T rs2145978561
NM_001005361.3(DNM2):c.992+20C>G rs1264296316
NM_001005361.3(DNM2):c.993-16T>A rs776227722
NM_001005361.3(DNM2):c.993-16T>C rs776227722
NM_001005361.3(DNM2):c.993-20C>T rs1239150270
NM_001005361.3(DNM2):c.993-7C>G rs2071833224
NM_001005361.3(DNM2):c.99G>A (p.Gln33=) rs2512931610

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