ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease, dominant intermediate B

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 377
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HGVS dbSNP
DNM2, 9-BP DEL, NT1652
NC_000019.10:g.(?_10718233)_(10759821_?)dup
NC_000019.10:g.(?_10718233)_(10786716_?)dup
NC_000019.10:g.(?_10819960)_(10823919_?)dup
NC_000019.10:g.(?_10819970)_(10823909_?)dup
NC_000019.10:g.(?_10819970)_(10831057_?)dup
NC_000019.9:g.(?_10828899)_(10870507_?)dup
NC_000019.9:g.(?_10828899)_(10897402_?)dup
NC_000019.9:g.(?_10828909)_(10829089_?)dup
NM_001005360.2(DNM2):c.*106T>C rs886054144
NM_001005360.2(DNM2):c.*10G>A rs200188660
NM_001005360.2(DNM2):c.*14C>T rs369529119
NM_001005360.2(DNM2):c.*166G>A rs886054145
NM_001005360.2(DNM2):c.*22C>T rs531170486
NM_001005360.2(DNM2):c.*268A>T rs12461992
NM_001005360.2(DNM2):c.*35C>G rs199700849
NM_001005360.2(DNM2):c.*385C>T rs78160240
NM_001005360.2(DNM2):c.*386G>C rs74952080
NM_001005360.2(DNM2):c.*391C>T rs886054147
NM_001005360.2(DNM2):c.*453C>T rs200104482
NM_001005360.2(DNM2):c.*47G>A rs367938944
NM_001005360.2(DNM2):c.*550G>A rs886054148
NM_001005360.2(DNM2):c.*601C>T rs185820576
NM_001005360.2(DNM2):c.*607G>A rs117954916
NM_001005360.2(DNM2):c.*711T>C rs886054149
NM_001005360.2(DNM2):c.*79G>A rs550692861
NM_001005360.2(DNM2):c.*82C>T rs569502521
NM_001005360.2(DNM2):c.*88C>G rs886054143
NM_001005360.2(DNM2):c.-122G>A rs886054139
NM_001005360.2(DNM2):c.-153G>T rs886054138
NM_001005360.2(DNM2):c.-19G>T rs753599004
NM_001005360.2(DNM2):c.1010G>T (p.Gly337Val) rs767838513
NM_001005360.2(DNM2):c.1051G>A (p.Val351Met) rs876661176
NM_001005360.2(DNM2):c.1071C>T (p.Ser357=) rs779241319
NM_001005360.2(DNM2):c.1077C>T (p.Gly359=) rs112238216
NM_001005360.2(DNM2):c.1095C>A (p.Ile365=) rs746959606
NM_001005360.2(DNM2):c.1101C>T (p.His367=) rs768651920
NM_001005360.2(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp) rs121909090
NM_001005360.2(DNM2):c.1106G>A (p.Arg369Gln) rs121909089
NM_001005360.2(DNM2):c.1218C>T (p.Asp406=) rs563985581
NM_001005360.2(DNM2):c.1273C>A (p.Leu425Met) rs879253980
NM_001005360.2(DNM2):c.1286A>T (p.Asp429Val) rs186762327
NM_001005360.2(DNM2):c.1304T>G (p.Leu435Arg) rs1555710681
NM_001005360.2(DNM2):c.1322A>G (p.Gln441Arg) rs1280243348
NM_001005360.2(DNM2):c.1335+13C>T rs150975494
NM_001005360.2(DNM2):c.1335+1G>A rs1431565635
NM_001005360.2(DNM2):c.1354T>G (p.Leu452Val) rs770599060
NM_001005360.2(DNM2):c.1358G>A (p.Arg453Gln) rs140043676
NM_001005360.2(DNM2):c.1372C>G (p.Arg458Gly) rs745748213
NM_001005360.2(DNM2):c.1377C>T (p.Ile459=) rs369345296
NM_001005360.2(DNM2):c.1384A>G (p.Thr462Ala) rs201575500
NM_001005360.2(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001005360.2(DNM2):c.1418A>T (p.Asp473Val) rs766613900
NM_001005360.2(DNM2):c.1422+9C>T rs199952853
NM_001005360.2(DNM2):c.1423-12G>A rs376753915
NM_001005360.2(DNM2):c.1423-9C>G rs371006369
NM_001005360.2(DNM2):c.1437C>T (p.Ile479=) rs146506201
NM_001005360.2(DNM2):c.1456A>G (p.Ile486Val) rs758246840
NM_001005360.2(DNM2):c.1463C>G (p.Thr488Arg) rs746903992
NM_001005360.2(DNM2):c.1493A>G (p.Asn498Ser) rs886054140
NM_001005360.2(DNM2):c.1512G>A (p.Thr504=) rs767407905
NM_001005360.2(DNM2):c.1552A>G (p.Ile518Val) rs753402698
NM_001005360.2(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001005360.2(DNM2):c.1594A>G (p.Ser532Gly) rs368752035
NM_001005360.2(DNM2):c.161+3G>A rs1555696272
NM_001005360.2(DNM2):c.1616A>T (p.Lys539Met) rs1568314284
NM_001005360.2(DNM2):c.162-7C>A rs148318860
NM_001005360.2(DNM2):c.162-7C>T rs148318860
NM_001005360.2(DNM2):c.162-9C>A rs200736669
NM_001005360.2(DNM2):c.1645T>A (p.Ser549Thr) rs144763522
NM_001005360.2(DNM2):c.1671+3G>C rs942932745
NM_001005360.2(DNM2):c.1718G>A (p.Arg573His) rs1555715216
NM_001005360.2(DNM2):c.1731G>C (p.Lys577Asn) rs35365412
NM_001005360.2(DNM2):c.1747A>G (p.Lys583Glu) rs1568318798
NM_001005360.2(DNM2):c.1772C>T (p.Thr591Met) rs372876881
NM_001005360.2(DNM2):c.1773G>A (p.Thr591=) rs201604679
NM_001005360.2(DNM2):c.177C>T (p.Arg59=) rs762795230
NM_001005360.2(DNM2):c.1781+6G>T rs1568318838
NM_001005360.2(DNM2):c.1782-11C>T rs78580529
NM_001005360.2(DNM2):c.1782-4G>A rs767424969
NM_001005360.2(DNM2):c.1782-4G>C rs767424969
NM_001005360.2(DNM2):c.1782-5C>T rs200103145
NM_001005360.2(DNM2):c.1782-7C>A rs200843089
NM_001005360.2(DNM2):c.1837G>A (p.Val613Met) rs748286191
NM_001005360.2(DNM2):c.1852G>T (p.Ala618Ser) rs773598203
NM_001005360.2(DNM2):c.1853C>A (p.Ala618Asp) rs1555715869
NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001005360.2(DNM2):c.1858T>C (p.Phe620Leu) rs1274228418
NM_001005360.2(DNM2):c.1902C>T (p.Asn634=) rs2229919
NM_001005360.2(DNM2):c.1903G>A (p.Glu635Lys) rs761198315
NM_001005360.2(DNM2):c.190G>A (p.Val64Ile) rs144250390
NM_001005360.2(DNM2):c.1912G>A (p.Ala638Thr) rs587778236
NM_001005360.2(DNM2):c.1952G>A (p.Arg651Gln) rs1568321851
NM_001005360.2(DNM2):c.1969C>T (p.Arg657Cys) rs772920450
NM_001005360.2(DNM2):c.200G>A (p.Arg67Gln) rs752080566
NM_001005360.2(DNM2):c.2011A>G (p.Ile671Val) rs1568321953
NM_001005360.2(DNM2):c.2023A>G (p.Met675Val) rs1555716140
NM_001005360.2(DNM2):c.2031G>A (p.Lys677=) rs768285660
NM_001005360.2(DNM2):c.2041C>A (p.His681Asn) rs1437296623
NM_001005360.2(DNM2):c.2059-5C>T rs377150057
NM_001005360.2(DNM2):c.2061G>A (p.Thr687=) rs149164657
NM_001005360.2(DNM2):c.2136G>T (p.Ser712=) rs1555716924
NM_001005360.2(DNM2):c.2144A>G (p.Gln715Arg) rs374041367
NM_001005360.2(DNM2):c.2160C>T (p.Asp720=) rs117598326
NM_001005360.2(DNM2):c.2179C>T (p.His727Tyr) rs142963320
NM_001005360.2(DNM2):c.2197C>T (p.Leu733Phe) rs1568324227
NM_001005360.2(DNM2):c.2201A>G (p.Asn734Ser) rs577767034
NM_001005360.2(DNM2):c.2231T>C (p.Val744Ala) rs777609224
NM_001005360.2(DNM2):c.2233T>A (p.Ser745Thr) rs1568324267
NM_001005360.2(DNM2):c.2253T>C (p.Pro751=) rs200155565
NM_001005360.2(DNM2):c.2264C>A (p.Thr755Asn) rs754691182
NM_001005360.2(DNM2):c.2276G>A (p.Ser759Asn) rs879254300
NM_001005360.2(DNM2):c.2286C>A (p.Ser762Arg) rs1568324385
NM_001005360.2(DNM2):c.2291+4C>T rs200408852
NM_001005360.2(DNM2):c.2292C>T (p.Ser764=) rs779394836
NM_001005360.2(DNM2):c.2305C>T (p.Arg769Cys) rs374864354
NM_001005360.2(DNM2):c.2308C>T (p.Arg770Ter) rs1599641077
NM_001005360.2(DNM2):c.2313G>A (p.Pro771=) rs147463138
NM_001005360.2(DNM2):c.235+12C>A rs147026993
NM_001005360.2(DNM2):c.235+6A>G rs113192269
NM_001005360.2(DNM2):c.2356G>T (p.Gly786Cys) rs1555717200
NM_001005360.2(DNM2):c.236-8C>G rs143084059
NM_001005360.2(DNM2):c.238C>T (p.His80Tyr) rs148790687
NM_001005360.2(DNM2):c.2418G>A (p.Ala806=) rs200968756
NM_001005360.2(DNM2):c.2435G>A (p.Arg812Gln) rs1285468865
NM_001005360.2(DNM2):c.2443C>T (p.Pro815Ser) rs1438459794
NM_001005360.2(DNM2):c.2451C>T (p.Ser817=) rs751961437
NM_001005360.2(DNM2):c.2484G>A (p.Pro828=) rs114682382
NM_001005360.2(DNM2):c.2497T>C (p.Ser833Pro) rs1253864930
NM_001005360.2(DNM2):c.2511G>A (p.Arg837=) rs200100669
NM_001005360.2(DNM2):c.2531C>T (p.Pro844Leu) rs1398139585
NM_001005360.2(DNM2):c.2543+7C>G rs201979143
NM_001005360.2(DNM2):c.2544_2546delCAG
NM_001005360.2(DNM2):c.2560G>T (p.Ala854Ser) rs886054141
NM_001005360.2(DNM2):c.2561C>T (p.Ala854Val) rs776073354
NM_001005360.2(DNM2):c.2562G>A (p.Ala854=) rs761141093
NM_001005360.2(DNM2):c.2567G>A (p.Ser856Asn) rs149825590
NM_001005360.2(DNM2):c.2592C>T (p.Ala864=) rs373161548
NM_001005360.2(DNM2):c.2593G>A (p.Glu865Lys) rs746818628
NM_001005360.2(DNM2):c.266A>G (p.Lys89Arg) rs1340636700
NM_001005360.2(DNM2):c.292C>T (p.Arg98Trp) rs200408053
NM_001005360.2(DNM2):c.316G>A (p.Asp106Asn) rs375151459
NM_001005360.2(DNM2):c.33G>A (p.Pro11=) rs779502758
NM_001005360.2(DNM2):c.345C>G (p.Ile115Met) rs753176358
NM_001005360.2(DNM2):c.384C>T (p.His128=) rs201089328
NM_001005360.2(DNM2):c.386-6T>A rs114623441
NM_001005360.2(DNM2):c.450A>G (p.Pro150=) rs766121627
NM_001005360.2(DNM2):c.480C>T (p.Ile160=) rs140036663
NM_001005360.2(DNM2):c.481C>A (p.Leu161Met) rs1060503547
NM_001005360.2(DNM2):c.497G>A (p.Arg166Gln) rs200002469
NM_001005360.2(DNM2):c.519T>C (p.Ala173=) rs77702567
NM_001005360.2(DNM2):c.528C>T (p.Pro176=) rs147579870
NM_001005360.2(DNM2):c.555C>T (p.Asp185=) rs140788791
NM_001005360.2(DNM2):c.596G>A (p.Arg199Gln) rs1568294706
NM_001005360.2(DNM2):c.633C>T (p.Asp211=) rs200191870
NM_001005360.2(DNM2):c.643G>A (p.Asp215Asn) rs145478270
NM_001005360.2(DNM2):c.645C>A (p.Asp215Glu) rs148900299
NM_001005360.2(DNM2):c.645C>T (p.Asp215=) rs148900299
NM_001005360.2(DNM2):c.666C>T (p.Asn222=) rs2229921
NM_001005360.2(DNM2):c.689-3C>T rs373330742
NM_001005360.2(DNM2):c.695T>C (p.Ile232Thr) rs749672066
NM_001005360.2(DNM2):c.699C>T (p.Gly233=) rs751844947
NM_001005360.2(DNM2):c.750A>G (p.Ala250=) rs202214529
NM_001005360.2(DNM2):c.758C>T (p.Ala253Val) rs752195631
NM_001005360.2(DNM2):c.788C>T (p.Pro263Leu) rs3745674
NM_001005360.2(DNM2):c.789G>A (p.Pro263=) rs199976453
NM_001005360.2(DNM2):c.797G>A (p.Arg266Gln) rs754507545
NM_001005360.2(DNM2):c.800A>G (p.His267Arg) rs1412618988
NM_001005360.2(DNM2):c.819C>T (p.Gly273=) rs1464745378
NM_001005360.2(DNM2):c.81C>T (p.Cys27=) rs534605878
NM_001005360.2(DNM2):c.821C>T (p.Thr274Met) rs746387165
NM_001005360.2(DNM2):c.822G>A (p.Thr274=) rs201763720
NM_001005360.2(DNM2):c.839C>T (p.Thr280Met) rs202155679
NM_001005360.2(DNM2):c.83A>T (p.His28Leu) rs774962668
NM_001005360.2(DNM2):c.850-7C>G rs778548382
NM_001005360.2(DNM2):c.868C>G (p.Arg290Gly) rs587778235
NM_001005360.2(DNM2):c.868C>T (p.Arg290Trp) rs587778235
NM_001005360.2(DNM2):c.876G>A (p.Ser292=) rs749140605
NM_001005360.2(DNM2):c.882G>A (p.Pro294=) rs144790170
NM_001005360.2(DNM2):c.890G>A (p.Arg297His) rs763894364
NM_001005360.2(DNM2):c.8A>G (p.Asn3Ser) rs890297188
NM_001005360.2(DNM2):c.90C>T (p.Asp30=) rs759919549
NM_001005360.2(DNM2):c.934G>A (p.Glu312Lys) rs370636702
NM_001005360.2(DNM2):c.958G>A (p.Asp320Asn) rs150613209
NM_001005360.2(DNM2):c.992+4T>C rs1225723240
NM_001005361.3(DNM2):c.*185A>C
NM_001005361.3(DNM2):c.*214C>T
NM_001005361.3(DNM2):c.*321A>G
NM_001005361.3(DNM2):c.*373G>A
NM_001005361.3(DNM2):c.*379C>T
NM_001005361.3(DNM2):c.*671T>C
NM_001005361.3(DNM2):c.*716C>T
NM_001005361.3(DNM2):c.*751T>A
NM_001005361.3(DNM2):c.-116C>T
NM_001005361.3(DNM2):c.1012G>A (p.Val338Met)
NM_001005361.3(DNM2):c.1040C>T (p.Ser347Leu)
NM_001005361.3(DNM2):c.1088A>G (p.Asn363Ser)
NM_001005361.3(DNM2):c.1090C>G (p.Arg364Gly)
NM_001005361.3(DNM2):c.1091G>A (p.Arg364His)
NM_001005361.3(DNM2):c.10C>T (p.Arg4Cys)
NM_001005361.3(DNM2):c.1134G>C (p.Glu378Asp)
NM_001005361.3(DNM2):c.1141G>A (p.Glu381Lys)
NM_001005361.3(DNM2):c.1161G>T (p.Glu387Asp)
NM_001005361.3(DNM2):c.1178A>C (p.Lys393Thr)
NM_001005361.3(DNM2):c.1188T>C (p.His396=) rs1039592560
NM_001005361.3(DNM2):c.1196+625C>T rs542089703
NM_001005361.3(DNM2):c.1196+626G>A
NM_001005361.3(DNM2):c.1196+628G>C rs374376619
NM_001005361.3(DNM2):c.1196+640G>A
NM_001005361.3(DNM2):c.1196+652C>T rs377319162
NM_001005361.3(DNM2):c.1196+680A>G
NM_001005361.3(DNM2):c.1196+707G>C
NM_001005361.3(DNM2):c.1196+710G>A
NM_001005361.3(DNM2):c.1196+715G>A
NM_001005361.3(DNM2):c.1196+735A>G
NM_001005361.3(DNM2):c.1351C>T (p.Arg451Trp)
NM_001005361.3(DNM2):c.1352G>T (p.Arg451Leu)
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=)
NM_001005361.3(DNM2):c.1373G>A (p.Arg458Gln)
NM_001005361.3(DNM2):c.1378G>A (p.Val460Ile)
NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln)
NM_001005361.3(DNM2):c.1423-1G>T
NM_001005361.3(DNM2):c.1423-8T>C rs1599583116
NM_001005361.3(DNM2):c.1438G>A (p.Asp480Asn)
NM_001005361.3(DNM2):c.1493+5G>A
NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met)
NM_001005361.3(DNM2):c.1541A>G (p.Asn514Ser)
NM_001005361.3(DNM2):c.1558-7C>A rs184310103
NM_001005361.3(DNM2):c.1558-9T>G rs748026953
NM_001005361.3(DNM2):c.1586A>G (p.Asn529Ser)
NM_001005361.3(DNM2):c.1606G>A (p.Gly536Ser)
NM_001005361.3(DNM2):c.1608C>T (p.Gly536=) rs774973372
NM_001005361.3(DNM2):c.160C>G (p.Arg54Gly)
NM_001005361.3(DNM2):c.161+12_161+29dup rs750378486
NM_001005361.3(DNM2):c.162G>C (p.Arg54=)
NM_001005361.3(DNM2):c.1671+14G>A
NM_001005361.3(DNM2):c.1708C>T (p.Leu570Phe)
NM_001005361.3(DNM2):c.1721A>C (p.Asp574Ala)
NM_001005361.3(DNM2):c.1735_1737dup (p.Phe579dup)
NM_001005361.3(DNM2):c.1782-6C>T rs963604980
NM_001005361.3(DNM2):c.1782-7C>G
NM_001005361.3(DNM2):c.1806G>C (p.Gln602His)
NM_001005361.3(DNM2):c.1873G>A (p.Val625Ile)
NM_001005361.3(DNM2):c.1907A>G (p.Asp636Gly)
NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys)
NM_001005361.3(DNM2):c.1962G>A (p.Glu654=)
NM_001005361.3(DNM2):c.1965C>T (p.Thr655=) rs201972896
NM_001005361.3(DNM2):c.1966A>T (p.Ile656Phe)
NM_001005361.3(DNM2):c.1990G>A (p.Val664Met)
NM_001005361.3(DNM2):c.1998C>G (p.Ile666Met)
NM_001005361.3(DNM2):c.19G>C (p.Glu7Gln)
NM_001005361.3(DNM2):c.2017G>A (p.Asp673Asn)
NM_001005361.3(DNM2):c.2035A>G (p.Ile679Val) rs1381561772
NM_001005361.3(DNM2):c.2058+3G>A
NM_001005361.3(DNM2):c.2074C>T (p.His692Tyr)
NM_001005361.3(DNM2):c.20A>G (p.Glu7Gly)
NM_001005361.3(DNM2):c.2106G>A (p.Ser702=)
NM_001005361.3(DNM2):c.2107G>A (p.Ala703Thr)
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920
NM_001005361.3(DNM2):c.2152C>T (p.Arg718Trp)
NM_001005361.3(DNM2):c.2153G>A (p.Arg718Gln)
NM_001005361.3(DNM2):c.2161G>A (p.Asp721Asn)
NM_001005361.3(DNM2):c.2171G>A (p.Arg724His)
NM_001005361.3(DNM2):c.2173A>G (p.Met725Val)
NM_001005361.3(DNM2):c.2194G>A (p.Ala732Thr)
NM_001005361.3(DNM2):c.2195C>T (p.Ala732Val)
NM_001005361.3(DNM2):c.2215A>G (p.Ile739Val)
NM_001005361.3(DNM2):c.2237C>T (p.Thr746Met) rs202136528
NM_001005361.3(DNM2):c.2245C>T (p.Pro749Ser)
NM_001005361.3(DNM2):c.2249C>T (p.Pro750Leu)
NM_001005361.3(DNM2):c.2264C>T (p.Thr755Ile)
NM_001005361.3(DNM2):c.2291+5G>A
NM_001005361.3(DNM2):c.2292-7C>G
NM_001005361.3(DNM2):c.2297C>T (p.Thr766Ile)
NM_001005361.3(DNM2):c.2311C>A (p.Pro771Thr)
NM_001005361.3(DNM2):c.2312C>T (p.Pro771Leu) rs202060910
NM_001005361.3(DNM2):c.2328C>A (p.His776Gln)
NM_001005361.3(DNM2):c.2330C>T (p.Pro777Leu)
NM_001005361.3(DNM2):c.2338C>T (p.Arg780Trp)
NM_001005361.3(DNM2):c.2358C>A (p.Gly786=)
NM_001005361.3(DNM2):c.2359C>G (p.Pro787Ala)
NM_001005361.3(DNM2):c.2372C>T (p.Pro791Leu)
NM_001005361.3(DNM2):c.2374C>A (p.Pro792Thr)
NM_001005361.3(DNM2):c.2377del (p.Pro792_Leu793insTer)
NM_001005361.3(DNM2):c.2395G>A (p.Gly799Arg)
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu)
NM_001005361.3(DNM2):c.2417C>T (p.Ala806Val)
NM_001005361.3(DNM2):c.2425A>G (p.Ile809Val)
NM_001005361.3(DNM2):c.2432C>T (p.Ser811Phe)
NM_001005361.3(DNM2):c.2437C>T (p.Pro813Ser)
NM_001005361.3(DNM2):c.2438C>T (p.Pro813Leu)
NM_001005361.3(DNM2):c.2451C>G (p.Ser817Arg)
NM_001005361.3(DNM2):c.2495C>T (p.Pro832Leu)
NM_001005361.3(DNM2):c.2514C>T (p.Ile838=) rs200782592
NM_001005361.3(DNM2):c.2523G>T (p.Gly841=)
NM_001005361.3(DNM2):c.2543+5G>C
NM_001005361.3(DNM2):c.2544-3C>T
NM_001005361.3(DNM2):c.2584C>T (p.Arg862Cys)
NM_001005361.3(DNM2):c.2593G>C (p.Glu865Gln)
NM_001005361.3(DNM2):c.2596C>T (p.Pro866Ser)
NM_001005361.3(DNM2):c.2606T>C (p.Leu869Pro)
NM_001005361.3(DNM2):c.2607C>T (p.Leu869=) rs144472798
NM_001005361.3(DNM2):c.315C>T (p.Thr105=) rs111837150
NM_001005361.3(DNM2):c.335A>G (p.Asn112Ser)
NM_001005361.3(DNM2):c.376T>G (p.Ser126Ala)
NM_001005361.3(DNM2):c.385+6C>T
NM_001005361.3(DNM2):c.386-6T>C rs114623441
NM_001005361.3(DNM2):c.414G>A (p.Pro138=)
NM_001005361.3(DNM2):c.448C>T (p.Pro150Ser)
NM_001005361.3(DNM2):c.453C>T (p.Asp151=) rs201681441
NM_001005361.3(DNM2):c.471G>T (p.Lys157Asn) rs757708760
NM_001005361.3(DNM2):c.496C>T (p.Arg166Trp)
NM_001005361.3(DNM2):c.514C>T (p.Leu172=) rs1599530007
NM_001005361.3(DNM2):c.533A>G (p.Asn178Ser)
NM_001005361.3(DNM2):c.543G>A (p.Leu181=)
NM_001005361.3(DNM2):c.54C>A (p.Asp18Glu)
NM_001005361.3(DNM2):c.589+5C>A
NM_001005361.3(DNM2):c.591C>T (p.Gly197=)
NM_001005361.3(DNM2):c.5G>A (p.Gly2Asp)
NM_001005361.3(DNM2):c.625C>T (p.Leu209=) rs927749691
NM_001005361.3(DNM2):c.642C>G (p.Thr214=) rs752944817
NM_001005361.3(DNM2):c.646G>T (p.Ala216Ser)
NM_001005361.3(DNM2):c.65C>G (p.Ser22Cys)
NM_001005361.3(DNM2):c.695T>G (p.Ile232Ser)
NM_001005361.3(DNM2):c.700G>A (p.Val234Met)
NM_001005361.3(DNM2):c.72C>T (p.Gly24=)
NM_001005361.3(DNM2):c.733A>G (p.Lys245Glu)
NM_001005361.3(DNM2):c.782C>G (p.Ser261Cys)
NM_001005361.3(DNM2):c.796C>T (p.Arg266Trp)
NM_001005361.3(DNM2):c.806C>T (p.Ala269Val)
NM_001005361.3(DNM2):c.807C>T (p.Ala269=) rs752361306
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn)
NM_001005361.3(DNM2):c.812G>T (p.Arg271Leu)
NM_001005361.3(DNM2):c.823C>A (p.Pro275Thr)
NM_001005361.3(DNM2):c.838A>G (p.Thr280Ala)
NM_001005361.3(DNM2):c.849+7C>T
NM_001005361.3(DNM2):c.857C>T (p.Thr286Ile)
NM_001005361.3(DNM2):c.869G>A (p.Arg290Gln) rs117398902
NM_001005361.3(DNM2):c.890G>T (p.Arg297Leu)
NM_001005361.3(DNM2):c.900A>G (p.Leu300=) rs1599552753
NM_001005361.3(DNM2):c.90C>G (p.Asp30Glu)
NM_001005361.3(DNM2):c.919C>G (p.Leu307Val)
NM_001005361.3(DNM2):c.936G>A (p.Glu312=) rs949106319
NM_001005361.3(DNM2):c.943A>C (p.Lys315Gln)
NM_001005361.3(DNM2):c.992+3A>G
NM_001190716.2(DNM2):c.1021G>A (p.Glu341Lys) rs864309705
NM_001190716.2(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_004945.3(DNM2):c.149A>G (p.Asn50Ser) rs757121012
NM_004945.3(DNM2):c.1526A>G (p.Lys509Arg) rs1555712608
NM_004945.3(DNM2):c.1597G>A (p.Gly533Ser) rs121909093
NM_004945.3(DNM2):c.162-6del rs766449694
NM_004945.3(DNM2):c.1629C>A (p.Ala543=) rs538253489
NM_004945.3(DNM2):c.1652_1659+1del rs1568314339
NM_004945.3(DNM2):c.1664A>G (p.Lys555Arg) rs886043756
NM_004945.3(DNM2):c.177C>A (p.Arg59=) rs762795230
NM_004945.3(DNM2):c.2088_2090CTC[1] (p.Ser698del) rs1324559612
NM_004945.3(DNM2):c.2093C>T (p.Ser698Leu) rs745382488
NM_004945.3(DNM2):c.2360C>A (p.Pro787His) rs780738840
NM_004945.3(DNM2):c.2399_2401del (p.Phe800del) rs752014734
NM_004945.3(DNM2):c.2440G>A (p.Val814Met) rs755608537
NM_004945.3(DNM2):c.2467G>A (p.Ala823Thr) rs1599641452
NM_004945.3(DNM2):c.2561_2563CCA[1] (p.Thr855del) rs1599643472
NM_004945.3(DNM2):c.2564_2569del (p.Thr855_Ile856del) rs876661117
NM_004945.3(DNM2):c.2595C>A (p.Leu865=) rs144472798
NM_004945.3(DNM2):c.31C>T (p.Pro11Ser) rs1014814501
NM_004945.3(DNM2):c.439G>A (p.Asp147Asn) rs370086632
NM_004945.3(DNM2):c.535A>G (p.Met179Val) rs748887276
NM_004945.3(DNM2):c.636G>T (p.Glu212Asp) rs542515194
NM_004945.3(DNM2):c.637G>T (p.Gly213Cys) rs767908123
NM_004945.3(DNM2):c.655G>A (p.Val219Ile) rs111845811
NM_004945.3(DNM2):c.695T>A (p.Ile232Asn) rs749672066
NM_004945.3(DNM2):c.700G>C (p.Val234Leu) rs377159042
NM_004945.3(DNM2):c.778C>G (p.Leu260Val) rs145607989
NM_004945.3(DNM2):c.811C>T (p.Arg271Cys) rs138128705
NM_004945.3(DNM2):c.812G>A (p.Arg271His) rs781546006
NM_004945.3(DNM2):c.889C>T (p.Arg297Cys) rs760254039

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