ClinVar Miner

List of variants in gene DNM2 reported as uncertain significance for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 476
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HGVS dbSNP gnomAD frequency
NM_001005361.3(DNM2):c.*185A>C rs570774479 0.00135
NM_001005361.3(DNM2):c.*88C>G rs886054143 0.00038
NM_001005361.3(DNM2):c.*82C>T rs569502521 0.00036
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr) rs142963320 0.00024
NM_001005361.3(DNM2):c.*79G>A rs550692861 0.00020
NM_001005361.3(DNM2):c.*391C>T rs886054147 0.00009
NM_001005361.3(DNM2):c.2543+6G>T rs531145240 0.00009
NM_001005361.3(DNM2):c.633C>T (p.Asp211=) rs200191870 0.00009
NM_001005361.3(DNM2):c.234A>G (p.Thr78=) rs747545894 0.00007
NM_001005361.3(DNM2):c.*373G>A rs906210543 0.00006
NM_001005361.3(DNM2):c.2074C>T (p.His692Tyr) rs752473055 0.00006
NM_001005361.3(DNM2):c.535A>G (p.Met179Val) rs748887276 0.00006
NM_001005361.3(DNM2):c.601A>G (p.Ile201Val) rs969140793 0.00006
NM_001005361.3(DNM2):c.1969C>T (p.Arg657Cys) rs772920450 0.00005
NM_001005361.3(DNM2):c.2305C>T (p.Arg769Cys) rs374864354 0.00005
NM_001005361.3(DNM2):c.868C>T (p.Arg290Trp) rs587778235 0.00005
NM_001005361.3(DNM2):c.1373G>A (p.Arg458Gln) rs375653221 0.00004
NM_001005361.3(DNM2):c.1456A>G (p.Ile486Val) rs758246840 0.00004
NM_001005361.3(DNM2):c.1990G>A (p.Val664Met) rs757366208 0.00004
NM_001005361.3(DNM2):c.2237C>T (p.Thr746Met) rs202136528 0.00004
NM_001005361.3(DNM2):c.2276G>A (p.Ser759Asn) rs879254300 0.00004
NM_001005361.3(DNM2):c.2418G>A (p.Ala806=) rs200968756 0.00004
NM_001005361.3(DNM2):c.497G>A (p.Arg166Gln) rs200002469 0.00004
NM_001005361.3(DNM2):c.869G>A (p.Arg290Gln) rs117398902 0.00004
NM_001005361.3(DNM2):c.1358G>A (p.Arg453Gln) rs140043676 0.00003
NM_001005361.3(DNM2):c.1372C>G (p.Arg458Gly) rs745748213 0.00003
NM_001005361.3(DNM2):c.1378G>A (p.Val460Ile) rs143992936 0.00003
NM_001005361.3(DNM2):c.1423-9C>G rs371006369 0.00003
NM_001005361.3(DNM2):c.162-9C>A rs200736669 0.00003
NM_001005361.3(DNM2):c.1858T>C (p.Phe620Leu) rs1274228418 0.00003
NM_001005361.3(DNM2):c.2452G>A (p.Val818Met) rs755608537 0.00003
NM_001005361.3(DNM2):c.2560G>T (p.Ala854Ser) rs886054141 0.00003
NM_001005361.3(DNM2):c.677C>T (p.Pro226Leu) rs779734638 0.00003
NM_001005361.3(DNM2):c.700G>C (p.Val234Leu) rs377159042 0.00003
NM_001005361.3(DNM2):c.890G>A (p.Arg297His) rs763894364 0.00003
NM_001005361.3(DNM2):c.1196+710G>A rs140208362 0.00002
NM_001005361.3(DNM2):c.1641C>A (p.Ala547=) rs538253489 0.00002
NM_001005361.3(DNM2):c.1786G>A (p.Val596Ile) rs763762422 0.00002
NM_001005361.3(DNM2):c.1912G>A (p.Ala638Thr) rs587778236 0.00002
NM_001005361.3(DNM2):c.2195C>T (p.Ala732Val) rs375577182 0.00002
NM_001005361.3(DNM2):c.2291+5G>A rs747057769 0.00002
NM_001005361.3(DNM2):c.2309G>A (p.Arg770Gln) rs768817257 0.00002
NM_001005361.3(DNM2):c.2327A>C (p.His776Pro) rs1277774683 0.00002
NM_001005361.3(DNM2):c.2328C>G (p.His776Gln) rs766387630 0.00002
NM_001005361.3(DNM2):c.414G>A (p.Pro138=) rs1222869455 0.00002
NM_001005361.3(DNM2):c.676C>T (p.Pro226Ser) rs757892950 0.00002
NM_001005361.3(DNM2):c.797G>A (p.Arg266Gln) rs754507545 0.00002
NM_001005361.3(DNM2):c.812G>A (p.Arg271His) rs781546006 0.00002
NM_001005361.3(DNM2):c.889C>T (p.Arg297Cys) rs760254039 0.00002
NM_001005361.3(DNM2):c.919C>G (p.Leu307Val) rs755458594 0.00002
NM_001005361.3(DNM2):c.*106T>C rs886054144 0.00001
NM_001005361.3(DNM2):c.*214C>T rs1271831719 0.00001
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp) rs121909090 0.00001
NM_001005361.3(DNM2):c.1128+5T>G rs2071835923 0.00001
NM_001005361.3(DNM2):c.1196+626G>A rs773756665 0.00001
NM_001005361.3(DNM2):c.1196+698C>A rs879253980 0.00001
NM_001005361.3(DNM2):c.1196+735A>G rs778187114 0.00001
NM_001005361.3(DNM2):c.1196+747A>G rs1280243348 0.00001
NM_001005361.3(DNM2):c.1351C>T (p.Arg451Trp) rs372593558 0.00001
NM_001005361.3(DNM2):c.1352G>A (p.Arg451Gln) rs749154067 0.00001
NM_001005361.3(DNM2):c.1418A>T (p.Asp473Val) rs766613900 0.00001
NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met) rs759366882 0.00001
NM_001005361.3(DNM2):c.1541A>G (p.Asn514Ser) rs141132980 0.00001
NM_001005361.3(DNM2):c.1586A>G (p.Asn529Ser) rs1406718069 0.00001
NM_001005361.3(DNM2):c.1676A>G (p.Lys559Arg) rs886043756 0.00001
NM_001005361.3(DNM2):c.1772C>T (p.Thr591Met) rs372876881 0.00001
NM_001005361.3(DNM2):c.1782-6C>T rs963604980 0.00001
NM_001005361.3(DNM2):c.1962G>A (p.Glu654=) rs746025991 0.00001
NM_001005361.3(DNM2):c.1973A>G (p.Asn658Ser) rs753175954 0.00001
NM_001005361.3(DNM2):c.2017G>A (p.Asp673Asn) rs1423993325 0.00001
NM_001005361.3(DNM2):c.2035A>G (p.Ile679Val) rs1381561772 0.00001
NM_001005361.3(DNM2):c.2105C>T (p.Ser702Leu) rs745382488 0.00001
NM_001005361.3(DNM2):c.2135C>T (p.Ser712Leu) rs763393555 0.00001
NM_001005361.3(DNM2):c.2152C>T (p.Arg718Trp) rs763927287 0.00001
NM_001005361.3(DNM2):c.2153G>A (p.Arg718Gln) rs753677038 0.00001
NM_001005361.3(DNM2):c.2158G>A (p.Asp720Asn) rs1253996634 0.00001
NM_001005361.3(DNM2):c.2173A>G (p.Met725Val) rs757876109 0.00001
NM_001005361.3(DNM2):c.2209G>A (p.Gly737Ser) rs774897265 0.00001
NM_001005361.3(DNM2):c.2264C>T (p.Thr755Ile) rs754691182 0.00001
NM_001005361.3(DNM2):c.2269C>T (p.Leu757Phe) rs375820696 0.00001
NM_001005361.3(DNM2):c.2292C>T (p.Ser764=) rs779394836 0.00001
NM_001005361.3(DNM2):c.2326C>T (p.His776Tyr) rs762624510 0.00001
NM_001005361.3(DNM2):c.2330C>T (p.Pro777Leu) rs1282571887 0.00001
NM_001005361.3(DNM2):c.2363C>T (p.Thr788Ile) rs763624831 0.00001
NM_001005361.3(DNM2):c.2371C>T (p.Pro791Ser) rs758644162 0.00001
NM_001005361.3(DNM2):c.2374C>A (p.Pro792Thr) rs1443504332 0.00001
NM_001005361.3(DNM2):c.2411T>C (p.Phe804Ser) rs1237677745 0.00001
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu) rs779081943 0.00001
NM_001005361.3(DNM2):c.2417C>T (p.Ala806Val) rs138527500 0.00001
NM_001005361.3(DNM2):c.2434C>T (p.Arg812Trp) rs2073292486 0.00001
NM_001005361.3(DNM2):c.2497T>C (p.Ser833Pro) rs1253864930 0.00001
NM_001005361.3(DNM2):c.2584C>T (p.Arg862Cys) rs774180125 0.00001
NM_001005361.3(DNM2):c.2593G>A (p.Glu865Lys) rs746818628 0.00001
NM_001005361.3(DNM2):c.266A>G (p.Lys89Arg) rs1340636700 0.00001
NM_001005361.3(DNM2):c.292C>T (p.Arg98Trp) rs200408053 0.00001
NM_001005361.3(DNM2):c.320G>A (p.Arg107Lys) rs761564812 0.00001
NM_001005361.3(DNM2):c.335A>G (p.Asn112Ser) rs1220312465 0.00001
NM_001005361.3(DNM2):c.439G>A (p.Asp147Asn) rs370086632 0.00001
NM_001005361.3(DNM2):c.496C>T (p.Arg166Trp) rs1366377441 0.00001
NM_001005361.3(DNM2):c.636G>T (p.Glu212Asp) rs542515194 0.00001
NM_001005361.3(DNM2):c.688G>C (p.Gly230Arg) rs1245632083 0.00001
NM_001005361.3(DNM2):c.689-3C>T rs373330742 0.00001
NM_001005361.3(DNM2):c.800A>G (p.His267Arg) rs1412618988 0.00001
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn) rs1217925152 0.00001
NM_001005361.3(DNM2):c.811C>T (p.Arg271Cys) rs138128705 0.00001
NM_001005361.3(DNM2):c.821C>T (p.Thr274Met) rs746387165 0.00001
NM_001005361.3(DNM2):c.881C>T (p.Pro294Leu) rs774185418 0.00001
NM_001005361.3(DNM2):c.934G>A (p.Glu312Lys) rs370636702 0.00001
NM_001005361.3(DNM2):c.944A>G (p.Lys315Arg) rs148105340 0.00001
NM_001005361.3(DNM2):c.952C>T (p.Arg318Trp) rs778020908 0.00001
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.(?_10828909)_(10829089_?)dup
NC_000019.9:g.(?_10828919)_(10829099_?)dup
NC_000019.9:g.(?_10870394)_(10870507_?)del
NC_000019.9:g.(?_10939692)_(10941723_?)dup
NC_000019.9:g.(?_10940783)_(10941723_?)dup
NM_001005361.3(DNM2):c.*166G>A rs886054145
NM_001005361.3(DNM2):c.*379C>T rs953057550
NM_001005361.3(DNM2):c.*550G>A rs886054148
NM_001005361.3(DNM2):c.*711T>C rs886054149
NM_001005361.3(DNM2):c.*716C>T rs2073353055
NM_001005361.3(DNM2):c.*751T>A rs2073354083
NM_001005361.3(DNM2):c.1010G>T (p.Gly337Val) rs767838513
NM_001005361.3(DNM2):c.1012G>A (p.Val338Met) rs753224039
NM_001005361.3(DNM2):c.1016A>G (p.Asp339Gly) rs1568304280
NM_001005361.3(DNM2):c.1033G>A (p.Glu345Lys)
NM_001005361.3(DNM2):c.1040C>T (p.Ser347Leu) rs2071834284
NM_001005361.3(DNM2):c.1048C>G (p.Gln350Glu) rs2071834543
NM_001005361.3(DNM2):c.1051G>A (p.Val351Met) rs876661176
NM_001005361.3(DNM2):c.1058C>A (p.Thr353Asn)
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001005361.3(DNM2):c.1078G>A (p.Ala360Thr)
NM_001005361.3(DNM2):c.1088A>G (p.Asn363Ser) rs2146014211
NM_001005361.3(DNM2):c.1090C>G (p.Arg364Gly) rs1568304333
NM_001005361.3(DNM2):c.1091G>A (p.Arg364His) rs2071835414
NM_001005361.3(DNM2):c.1091G>T (p.Arg364Leu)
NM_001005361.3(DNM2):c.1093A>G (p.Ile365Val)
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
NM_001005361.3(DNM2):c.1102G>C (p.Glu368Gln)
NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln) rs121909089
NM_001005361.3(DNM2):c.1124T>C (p.Val375Ala) rs587783594
NM_001005361.3(DNM2):c.1124T>G (p.Val375Gly)
NM_001005361.3(DNM2):c.1134G>C (p.Glu378Asp) rs1223342362
NM_001005361.3(DNM2):c.1135T>G (p.Phe379Val) rs397514735
NM_001005361.3(DNM2):c.1141G>A (p.Glu381Lys) rs2071896749
NM_001005361.3(DNM2):c.1147G>T (p.Asp383Tyr) rs1568305190
NM_001005361.3(DNM2):c.1156C>T (p.Arg386Trp)
NM_001005361.3(DNM2):c.1161G>T (p.Glu387Asp) rs2071897159
NM_001005361.3(DNM2):c.1178A>C (p.Lys393Thr) rs2071897365
NM_001005361.3(DNM2):c.1187A>G (p.His396Arg)
NM_001005361.3(DNM2):c.1196+4A>G
NM_001005361.3(DNM2):c.1196+613C>G
NM_001005361.3(DNM2):c.1196+619C>T rs748695148
NM_001005361.3(DNM2):c.1196+660T>C rs2146025971
NM_001005361.3(DNM2):c.1196+666A>G
NM_001005361.3(DNM2):c.1196+680A>G rs2071923540
NM_001005361.3(DNM2):c.1196+681A>C rs931176769
NM_001005361.3(DNM2):c.1196+681A>G rs931176769
NM_001005361.3(DNM2):c.1196+686A>G
NM_001005361.3(DNM2):c.1196+701A>T
NM_001005361.3(DNM2):c.1196+704T>C rs1409309807
NM_001005361.3(DNM2):c.1196+707G>C rs2071924630
NM_001005361.3(DNM2):c.1196+708T>C
NM_001005361.3(DNM2):c.1196+715G>A rs1338938129
NM_001005361.3(DNM2):c.1196+723A>G
NM_001005361.3(DNM2):c.1196+729T>G rs1555710681
NM_001005361.3(DNM2):c.1196+740G>T rs2146026442
NM_001005361.3(DNM2):c.1196+745G>T
NM_001005361.3(DNM2):c.1196+761G>A rs1431565635
NM_001005361.3(DNM2):c.1336-3C>A rs2146038756
NM_001005361.3(DNM2):c.1336-5C>G
NM_001005361.3(DNM2):c.1343C>A (p.Ser448Tyr) rs2072020474
NM_001005361.3(DNM2):c.1352G>T (p.Arg451Leu) rs749154067
NM_001005361.3(DNM2):c.1354T>G (p.Leu452Val) rs770599060
NM_001005361.3(DNM2):c.1356G>T (p.Leu452Phe)
NM_001005361.3(DNM2):c.1370A>G (p.Glu457Gly) rs1555711301
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=) rs745748213
NM_001005361.3(DNM2):c.1385C>T (p.Thr462Ile)
NM_001005361.3(DNM2):c.1388A>G (p.Tyr463Cys)
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001005361.3(DNM2):c.1400G>T (p.Arg467Leu)
NM_001005361.3(DNM2):c.1422+6G>A rs2146039132
NM_001005361.3(DNM2):c.1423-1G>T rs2072180672
NM_001005361.3(DNM2):c.1426C>A (p.Leu476Ile) rs1568309121
NM_001005361.3(DNM2):c.1438G>A (p.Asp480Asn) rs764027808
NM_001005361.3(DNM2):c.1438G>C (p.Asp480His)
NM_001005361.3(DNM2):c.1442T>C (p.Ile481Thr)
NM_001005361.3(DNM2):c.1451C>G (p.Ser484Cys) rs2146061357
NM_001005361.3(DNM2):c.1463C>T (p.Thr488Met) rs746903992
NM_001005361.3(DNM2):c.1480A>G (p.Ile494Val) rs2146061452
NM_001005361.3(DNM2):c.1483G>A (p.Gly495Arg)
NM_001005361.3(DNM2):c.1493+5G>A rs2072182574
NM_001005361.3(DNM2):c.1493A>C (p.Asn498Thr)
NM_001005361.3(DNM2):c.1493A>G (p.Asn498Ser) rs886054140
NM_001005361.3(DNM2):c.1514del (p.Gln505fs) rs2146080349
NM_001005361.3(DNM2):c.1521C>A (p.Asn507Lys)
NM_001005361.3(DNM2):c.1523A>G (p.Lys508Arg)
NM_001005361.3(DNM2):c.1523AGA[1] (p.Lys509del) rs752875857
NM_001005361.3(DNM2):c.1524G>C (p.Lys508Asn)
NM_001005361.3(DNM2):c.1526A>G (p.Lys509Arg) rs1555712608
NM_001005361.3(DNM2):c.1552A>G (p.Ile518Val) rs753402698
NM_001005361.3(DNM2):c.1558G>C (p.Val520Leu) rs2072577212
NM_001005361.3(DNM2):c.1564C>T (p.Arg522Cys) rs2072577342
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001005361.3(DNM2):c.1567A>G (p.Arg523Gly) rs587783596
NM_001005361.3(DNM2):c.1570G>C (p.Gly524Arg)
NM_001005361.3(DNM2):c.1586ACA[1] (p.Asn530del) rs1342132509
NM_001005361.3(DNM2):c.1594A>G (p.Ser532Gly) rs368752035
NM_001005361.3(DNM2):c.1601T>G (p.Met534Arg)
NM_001005361.3(DNM2):c.1606G>A (p.Gly536Ser) rs2072578382
NM_001005361.3(DNM2):c.1609G>T (p.Gly537Cys) rs121909093
NM_001005361.3(DNM2):c.1616A>T (p.Lys539Met) rs1568314284
NM_001005361.3(DNM2):c.1618G>A (p.Glu540Lys)
NM_001005361.3(DNM2):c.162G>A (p.Arg54=)
NM_001005361.3(DNM2):c.162G>C (p.Arg54=) rs762111033
NM_001005361.3(DNM2):c.1663G>A (p.Asp555Asn)
NM_001005361.3(DNM2):c.1664_1671+1del rs1568314339
NM_001005361.3(DNM2):c.1671+3G>A
NM_001005361.3(DNM2):c.1671+3G>C rs942932745
NM_001005361.3(DNM2):c.1675_1677del (p.Lys559del) rs1599620398
NM_001005361.3(DNM2):c.1678G>A (p.Glu560Lys) rs879254086
NM_001005361.3(DNM2):c.1681AAG[1] (p.Lys562del) rs1599620408
NM_001005361.3(DNM2):c.1684A>G (p.Lys562Glu) rs121909088
NM_001005361.3(DNM2):c.1696C>A (p.Pro566Thr)
NM_001005361.3(DNM2):c.1697C>T (p.Pro566Leu)
NM_001005361.3(DNM2):c.1705A>C (p.Asn569His)
NM_001005361.3(DNM2):c.1708C>T (p.Leu570Phe) rs2072921679
NM_001005361.3(DNM2):c.1709T>A (p.Leu570His) rs121909094
NM_001005361.3(DNM2):c.170_192del (p.Leu57fs) rs2145855560
NM_001005361.3(DNM2):c.1712A>G (p.Lys571Arg)
NM_001005361.3(DNM2):c.1713G>T (p.Lys571Asn)
NM_001005361.3(DNM2):c.1717C>T (p.Arg573Cys)
NM_001005361.3(DNM2):c.1718G>A (p.Arg573His) rs1555715216
NM_001005361.3(DNM2):c.1721A>C (p.Asp574Ala) rs1300578677
NM_001005361.3(DNM2):c.1723G>A (p.Val575Met)
NM_001005361.3(DNM2):c.1726G>A (p.Glu576Lys)
NM_001005361.3(DNM2):c.1731G>C (p.Lys577Asn) rs35365412
NM_001005361.3(DNM2):c.1732G>A (p.Gly578Ser)
NM_001005361.3(DNM2):c.1735_1737dup (p.Phe579dup) rs2072922521
NM_001005361.3(DNM2):c.1739T>C (p.Met580Thr) rs1269225724
NM_001005361.3(DNM2):c.1747A>G (p.Lys583Glu) rs1568318798
NM_001005361.3(DNM2):c.1753G>A (p.Val585Ile) rs762777422
NM_001005361.3(DNM2):c.175C>T (p.Arg59Cys)
NM_001005361.3(DNM2):c.1781+6G>C
NM_001005361.3(DNM2):c.1781+6G>T rs1568318838
NM_001005361.3(DNM2):c.1801C>T (p.Arg601Trp)
NM_001005361.3(DNM2):c.1806G>C (p.Gln602His) rs2073058875
NM_001005361.3(DNM2):c.1809C>G (p.Ile603Met) rs780409124
NM_001005361.3(DNM2):c.1816G>T (p.Ala606Ser) rs2146181196
NM_001005361.3(DNM2):c.1840G>A (p.Asp614Asn)
NM_001005361.3(DNM2):c.1847G>A (p.Trp616Ter)
NM_001005361.3(DNM2):c.1852G>A (p.Ala618Thr) rs773598203
NM_001005361.3(DNM2):c.1852G>T (p.Ala618Ser) rs773598203
NM_001005361.3(DNM2):c.1853C>A (p.Ala618Asp) rs1555715869
NM_001005361.3(DNM2):c.1856C>G (p.Ser619Trp) rs121909095
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001005361.3(DNM2):c.1862T>C (p.Leu621Pro) rs587783597
NM_001005361.3(DNM2):c.1871G>T (p.Gly624Val)
NM_001005361.3(DNM2):c.1873_1875del (p.Val625del)
NM_001005361.3(DNM2):c.187A>G (p.Ile63Val)
NM_001005361.3(DNM2):c.1880C>A (p.Pro627His)
NM_001005361.3(DNM2):c.1880C>G (p.Pro627Arg) rs587783598
NM_001005361.3(DNM2):c.1882G>A (p.Glu628Lys) rs775361247
NM_001005361.3(DNM2):c.1885_1893+8del
NM_001005361.3(DNM2):c.1893+1G>A rs2073061878
NM_001005361.3(DNM2):c.1903G>A (p.Glu635Lys) rs761198315
NM_001005361.3(DNM2):c.1906G>A (p.Asp636Asn)
NM_001005361.3(DNM2):c.1906G>C (p.Asp636His)
NM_001005361.3(DNM2):c.1938C>A (p.Asp646Glu)
NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys) rs2073098775
NM_001005361.3(DNM2):c.1952G>A (p.Arg651Gln) rs1568321851
NM_001005361.3(DNM2):c.1966A>T (p.Ile656Phe) rs776410455
NM_001005361.3(DNM2):c.1967T>C (p.Ile656Thr)
NM_001005361.3(DNM2):c.196C>T (p.Arg66Trp)
NM_001005361.3(DNM2):c.1970G>A (p.Arg657His) rs2146188021
NM_001005361.3(DNM2):c.197G>A (p.Arg66Gln) rs1568283807
NM_001005361.3(DNM2):c.1998C>G (p.Ile666Met) rs2073100886
NM_001005361.3(DNM2):c.200G>A (p.Arg67Gln) rs752080566
NM_001005361.3(DNM2):c.2011A>G (p.Ile671Val) rs1568321953
NM_001005361.3(DNM2):c.2014C>T (p.Arg672Cys)
NM_001005361.3(DNM2):c.2023A>G (p.Met675Val) rs1555716140
NM_001005361.3(DNM2):c.2041C>A (p.His681Asn) rs1437296623
NM_001005361.3(DNM2):c.2047A>G (p.Met683Val)
NM_001005361.3(DNM2):c.2057A>G (p.Asn686Ser) rs2073102227
NM_001005361.3(DNM2):c.2058+3G>A rs747966753
NM_001005361.3(DNM2):c.2058T>G (p.Asn686Lys) rs1368089327
NM_001005361.3(DNM2):c.205C>T (p.Leu69Phe) rs2145855703
NM_001005361.3(DNM2):c.2060C>T (p.Thr687Met)
NM_001005361.3(DNM2):c.208A>G (p.Ile70Val)
NM_001005361.3(DNM2):c.2100CTC[1] (p.Ser702del) rs1324559612
NM_001005361.3(DNM2):c.2102C>T (p.Ser701Phe)
NM_001005361.3(DNM2):c.2110G>A (p.Asp704Asn)
NM_001005361.3(DNM2):c.2116A>T (p.Ser706Cys) rs2146205490
NM_001005361.3(DNM2):c.2144A>G (p.Gln715Arg) rs374041367
NM_001005361.3(DNM2):c.2144A>T (p.Gln715Leu)
NM_001005361.3(DNM2):c.2146G>C (p.Ala716Pro)
NM_001005361.3(DNM2):c.2147C>T (p.Ala716Val)
NM_001005361.3(DNM2):c.2156G>A (p.Arg719Gln)
NM_001005361.3(DNM2):c.2159del (p.Asp720fs)
NM_001005361.3(DNM2):c.2161G>A (p.Asp721Asn) rs1012446714
NM_001005361.3(DNM2):c.2168T>A (p.Leu723Gln)
NM_001005361.3(DNM2):c.2170C>T (p.Arg724Cys)
NM_001005361.3(DNM2):c.2171G>A (p.Arg724His) rs1160341992
NM_001005361.3(DNM2):c.2174T>C (p.Met725Thr)
NM_001005361.3(DNM2):c.2180A>G (p.His727Arg)
NM_001005361.3(DNM2):c.2185C>G (p.Leu729Val)
NM_001005361.3(DNM2):c.2194G>A (p.Ala732Thr) rs1360529572
NM_001005361.3(DNM2):c.2197C>T (p.Leu733Phe) rs1568324227
NM_001005361.3(DNM2):c.2215A>G (p.Ile739Val) rs2073249809
NM_001005361.3(DNM2):c.2233T>A (p.Ser745Thr) rs1568324267
NM_001005361.3(DNM2):c.2245C>T (p.Pro749Ser) rs773884005
NM_001005361.3(DNM2):c.2246C>A (p.Pro749His) rs765111629
NM_001005361.3(DNM2):c.2248C>A (p.Pro750Thr) rs1173091380
NM_001005361.3(DNM2):c.2249C>T (p.Pro750Leu) rs375350902
NM_001005361.3(DNM2):c.2252C>A (p.Pro751His)
NM_001005361.3(DNM2):c.2257G>T (p.Asp753Tyr) rs368325934
NM_001005361.3(DNM2):c.2264C>A (p.Thr755Asn) rs754691182
NM_001005361.3(DNM2):c.2274G>T (p.Gln758His) rs2146206095
NM_001005361.3(DNM2):c.2278G>A (p.Ala760Thr) rs779315825
NM_001005361.3(DNM2):c.2286C>A (p.Ser762Arg) rs1568324385
NM_001005361.3(DNM2):c.2292-3C>T
NM_001005361.3(DNM2):c.2292-7C>G rs2073285852
NM_001005361.3(DNM2):c.2292-8C>A rs757620658
NM_001005361.3(DNM2):c.2297C>T (p.Thr766Ile) rs2073286326
NM_001005361.3(DNM2):c.2306G>A (p.Arg769His)
NM_001005361.3(DNM2):c.2308C>T (p.Arg770Ter) rs1599641077
NM_001005361.3(DNM2):c.2311C>A (p.Pro771Thr) rs1862203120
NM_001005361.3(DNM2):c.231A>C (p.Lys77Asn) rs2145855757
NM_001005361.3(DNM2):c.2323A>C (p.Ile775Leu) rs773124483
NM_001005361.3(DNM2):c.2328C>A (p.His776Gln) rs766387630
NM_001005361.3(DNM2):c.2332C>A (p.Pro778Thr) rs774220956
NM_001005361.3(DNM2):c.2335G>A (p.Gly779Ser)
NM_001005361.3(DNM2):c.2338C>T (p.Arg780Trp) rs1221582515
NM_001005361.3(DNM2):c.235+4A>G
NM_001005361.3(DNM2):c.2356G>T (p.Gly786Cys) rs1555717200
NM_001005361.3(DNM2):c.2357G>T (p.Gly786Val)
NM_001005361.3(DNM2):c.2358C>A (p.Gly786=) rs2073288383
NM_001005361.3(DNM2):c.2359C>G (p.Pro787Ala) rs752357434
NM_001005361.3(DNM2):c.2372C>A (p.Pro791His) rs780738840
NM_001005361.3(DNM2):c.2372C>T (p.Pro791Leu) rs780738840
NM_001005361.3(DNM2):c.2377_2378del (p.Leu793fs)
NM_001005361.3(DNM2):c.2377del (p.Pro792_Leu793insTer) rs764391392
NM_001005361.3(DNM2):c.2378T>C (p.Leu793Pro)
NM_001005361.3(DNM2):c.2378del (p.Leu793fs) rs2073289875
NM_001005361.3(DNM2):c.2383C>G (p.Pro795Ala)
NM_001005361.3(DNM2):c.2389C>A (p.Pro797Thr)
NM_001005361.3(DNM2):c.2390C>T (p.Pro797Leu)
NM_001005361.3(DNM2):c.2395G>A (p.Gly799Arg) rs2073290642
NM_001005361.3(DNM2):c.2399C>T (p.Ala800Val)
NM_001005361.3(DNM2):c.2411_2413del (p.Phe804del) rs752014734
NM_001005361.3(DNM2):c.2420C>T (p.Pro807Leu)
NM_001005361.3(DNM2):c.2432C>T (p.Ser811Phe) rs2073292307
NM_001005361.3(DNM2):c.2435G>A (p.Arg812Gln) rs1285468865
NM_001005361.3(DNM2):c.2437C>T (p.Pro813Ser) rs2073292666
NM_001005361.3(DNM2):c.2438C>T (p.Pro813Leu) rs1382688319
NM_001005361.3(DNM2):c.2443C>T (p.Pro815Ser) rs1438459794
NM_001005361.3(DNM2):c.244G>A (p.Glu82Lys)
NM_001005361.3(DNM2):c.2451C>G (p.Ser817Arg) rs751961437
NM_001005361.3(DNM2):c.2462A>G (p.Asn821Ser)
NM_001005361.3(DNM2):c.2465G>A (p.Ser822Asn) rs1301279979
NM_001005361.3(DNM2):c.2479G>A (p.Ala827Thr) rs1599641452
NM_001005361.3(DNM2):c.2495C>T (p.Pro832Leu) rs2073294248
NM_001005361.3(DNM2):c.2513T>G (p.Ile838Ser)
NM_001005361.3(DNM2):c.2526T>G (p.Ile842Met)
NM_001005361.3(DNM2):c.2527C>T (p.Pro843Ser) rs2146210571
NM_001005361.3(DNM2):c.2531C>T (p.Pro844Leu) rs1398139585
NM_001005361.3(DNM2):c.2534G>T (p.Gly845Val)
NM_001005361.3(DNM2):c.2543+1G>A rs2146210623
NM_001005361.3(DNM2):c.2543+5G>C rs2073295708
NM_001005361.3(DNM2):c.2544-3C>T rs2073330199
NM_001005361.3(DNM2):c.2555C>G (p.Pro852Arg)
NM_001005361.3(DNM2):c.2555C>T (p.Pro852Leu)
NM_001005361.3(DNM2):c.2561C>T (p.Ala854Val) rs776073354
NM_001005361.3(DNM2):c.2571_2593del (p.Pro858fs)
NM_001005361.3(DNM2):c.2571_2593dup (p.Glu865fs) rs2146213977
NM_001005361.3(DNM2):c.2572C>T (p.Pro858Ser)
NM_001005361.3(DNM2):c.2573C>A (p.Pro858His) rs2146214048
NM_001005361.3(DNM2):c.2573C>T (p.Pro858Leu) rs2146214048
NM_001005361.3(DNM2):c.2573CCA[1] (p.Thr859del) rs1599643472
NM_001005361.3(DNM2):c.2576_2581del (p.Thr859_Ile860del) rs876661117
NM_001005361.3(DNM2):c.2581A>T (p.Ile861Phe)
NM_001005361.3(DNM2):c.2585G>A (p.Arg862His)
NM_001005361.3(DNM2):c.2585G>C (p.Arg862Pro)
NM_001005361.3(DNM2):c.2593G>C (p.Glu865Gln) rs746818628
NM_001005361.3(DNM2):c.2593_2597del (p.Glu865fs)
NM_001005361.3(DNM2):c.2596C>T (p.Pro866Ser) rs1242764198
NM_001005361.3(DNM2):c.2600C>A (p.Ser867Tyr)
NM_001005361.3(DNM2):c.2603T>C (p.Leu868Pro)
NM_001005361.3(DNM2):c.2606T>C (p.Leu869Pro) rs1703984974
NM_001005361.3(DNM2):c.296A>G (p.Gln99Arg)
NM_001005361.3(DNM2):c.313A>T (p.Thr105Ser)
NM_001005361.3(DNM2):c.322G>C (p.Val108Leu)
NM_001005361.3(DNM2):c.323T>G (p.Val108Gly)
NM_001005361.3(DNM2):c.331A>G (p.Thr111Ala) rs2145911597
NM_001005361.3(DNM2):c.331A>T (p.Thr111Ser) rs2145911597
NM_001005361.3(DNM2):c.345C>G (p.Ile115Met) rs753176358
NM_001005361.3(DNM2):c.368G>A (p.Arg123Gln)
NM_001005361.3(DNM2):c.376T>G (p.Ser126Ala) rs2071018084
NM_001005361.3(DNM2):c.385+12G>A
NM_001005361.3(DNM2):c.385+6C>T rs746068458
NM_001005361.3(DNM2):c.385G>A (p.Val129Met)
NM_001005361.3(DNM2):c.427G>C (p.Val143Leu) rs1366173686
NM_001005361.3(DNM2):c.433G>A (p.Val145Met)
NM_001005361.3(DNM2):c.438C>T (p.Gly146=)
NM_001005361.3(DNM2):c.439G>C (p.Asp147His) rs370086632
NM_001005361.3(DNM2):c.448C>T (p.Pro150Ser) rs2071133001
NM_001005361.3(DNM2):c.451G>A (p.Asp151Asn) rs2145924541
NM_001005361.3(DNM2):c.454A>G (p.Ile152Val)
NM_001005361.3(DNM2):c.471G>T (p.Lys157Asn) rs757708760
NM_001005361.3(DNM2):c.481C>A (p.Leu161Met) rs1060503547
NM_001005361.3(DNM2):c.494G>A (p.Ser165Asn) rs1599529964
NM_001005361.3(DNM2):c.499G>A (p.Glu167Lys)
NM_001005361.3(DNM2):c.533A>G (p.Asn178Ser) rs777564981
NM_001005361.3(DNM2):c.556G>T (p.Ala186Ser)
NM_001005361.3(DNM2):c.565C>A (p.Leu189Met)
NM_001005361.3(DNM2):c.577G>A (p.Val193Ile) rs2145924827
NM_001005361.3(DNM2):c.589+5C>A rs1290724089
NM_001005361.3(DNM2):c.590G>A (p.Gly197Asp)
NM_001005361.3(DNM2):c.596G>A (p.Arg199Gln) rs1568294706
NM_001005361.3(DNM2):c.625C>T (p.Leu209=) rs927749691
NM_001005361.3(DNM2):c.645C>A (p.Asp215Glu) rs148900299
NM_001005361.3(DNM2):c.646G>T (p.Ala216Ser) rs2071182880
NM_001005361.3(DNM2):c.655G>A (p.Val219Ile) rs111845811
NM_001005361.3(DNM2):c.658T>G (p.Leu220Val)
NM_001005361.3(DNM2):c.661G>A (p.Glu221Lys)
NM_001005361.3(DNM2):c.670T>A (p.Leu224Met) rs2145929613
NM_001005361.3(DNM2):c.688G>A (p.Gly230Ser) rs1245632083
NM_001005361.3(DNM2):c.695T>C (p.Ile232Thr) rs749672066
NM_001005361.3(DNM2):c.695T>G (p.Ile232Ser) rs749672066
NM_001005361.3(DNM2):c.700G>A (p.Val234Met) rs377159042
NM_001005361.3(DNM2):c.700G>T (p.Val234Leu)
NM_001005361.3(DNM2):c.726T>G (p.Ile242Met)
NM_001005361.3(DNM2):c.733A>G (p.Lys245Glu) rs2071429703
NM_001005361.3(DNM2):c.739G>C (p.Asp247His)
NM_001005361.3(DNM2):c.742A>G (p.Ile248Val)
NM_001005361.3(DNM2):c.744C>G (p.Ile248Met)
NM_001005361.3(DNM2):c.746G>A (p.Arg249His)
NM_001005361.3(DNM2):c.758C>T (p.Ala253Val) rs752195631
NM_001005361.3(DNM2):c.767G>T (p.Arg256Met)
NM_001005361.3(DNM2):c.770A>G (p.Lys257Arg) rs1568298074
NM_001005361.3(DNM2):c.776T>C (p.Phe259Ser)
NM_001005361.3(DNM2):c.778C>G (p.Leu260Val) rs145607989
NM_001005361.3(DNM2):c.782C>G (p.Ser261Cys) rs2071430985
NM_001005361.3(DNM2):c.784C>T (p.His262Tyr)
NM_001005361.3(DNM2):c.787C>T (p.Pro263Ser)
NM_001005361.3(DNM2):c.788C>G (p.Pro263Arg)
NM_001005361.3(DNM2):c.796C>T (p.Arg266Trp) rs552366130
NM_001005361.3(DNM2):c.802A>G (p.Met268Val)
NM_001005361.3(DNM2):c.806C>T (p.Ala269Val) rs868210157
NM_001005361.3(DNM2):c.812G>T (p.Arg271Leu) rs781546006
NM_001005361.3(DNM2):c.823C>A (p.Pro275Thr) rs2071432774
NM_001005361.3(DNM2):c.838A>G (p.Thr280Ala) rs2071433079
NM_001005361.3(DNM2):c.848A>G (p.Gln283Arg)
NM_001005361.3(DNM2):c.852A>G (p.Gln284=)
NM_001005361.3(DNM2):c.857C>T (p.Thr286Ile) rs747798217
NM_001005361.3(DNM2):c.860A>G (p.Asn287Ser) rs1224102421
NM_001005361.3(DNM2):c.868C>G (p.Arg290Gly) rs587778235
NM_001005361.3(DNM2):c.884C>T (p.Ala295Val)
NM_001005361.3(DNM2):c.890G>T (p.Arg297Leu) rs763894364
NM_001005361.3(DNM2):c.892A>G (p.Ser298Gly)
NM_001005361.3(DNM2):c.896A>G (p.Lys299Arg)
NM_001005361.3(DNM2):c.931G>A (p.Val311Met) rs2145978014
NM_001005361.3(DNM2):c.949T>C (p.Phe317Leu) rs1057518858
NM_001005361.3(DNM2):c.953G>A (p.Arg318Gln) rs879254323
NM_001005361.3(DNM2):c.961G>A (p.Asp321Asn) rs745794161
NM_001005361.3(DNM2):c.982G>A (p.Ala328Thr) rs2145978260
NM_001005361.3(DNM2):c.992+20C>G
NM_001005361.3(DNM2):c.992+3A>G rs1053695479
NM_001005361.3(DNM2):c.992+4T>C rs1225723240
NM_001005361.3(DNM2):c.992+4T>G rs1225723240
NM_001005361.3(DNM2):c.997G>A (p.Val333Ile)
NM_001190716.2(DNM2):c.2544-3_2544-1del

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