ClinVar Miner

List of variants in gene DNM1 studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 470
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004408.4(DNM1):c.1008C>T (p.Phe336=) rs3003609 0.41986
NM_004408.4(DNM1):c.1062C>T (p.Tyr354=) rs35048348 0.08186
NM_004408.4(DNM1):c.1905+17C>T rs115623280 0.00965
NM_004408.4(DNM1):c.1894-18G>T rs116335289 0.00963
NM_004408.4(DNM1):c.1197-7C>T rs41306488 0.00247
NM_004408.4(DNM1):c.1906-17T>C rs191460911 0.00225
NM_004408.4(DNM1):c.1764C>T (p.Leu588=) rs111534551 0.00186
NM_004408.4(DNM1):c.1782-9A>G rs201739236 0.00090
NM_004408.4(DNM1):c.747C>T (p.Thr249=) rs141651183 0.00086
NM_004408.4(DNM1):c.2540C>T (p.Ser847Leu) rs199498658 0.00076
NM_004408.4(DNM1):c.1707C>T (p.Asn569=) rs145318071 0.00039
NM_004408.4(DNM1):c.1437C>T (p.Ile479=) rs141788807 0.00036
NM_004408.4(DNM1):c.2582C>A (p.Pro861His) rs187315526 0.00022
NM_004408.4(DNM1):c.1386C>T (p.Thr462=) rs372666180 0.00020
NM_004408.4(DNM1):c.1586A>G (p.Asn529Ser) rs150040014 0.00019
NM_004408.4(DNM1):c.1335+8G>A rs374438127 0.00016
NM_004408.4(DNM1):c.849+6C>T rs527412689 0.00013
NM_004408.4(DNM1):c.1200G>A (p.Thr400=) rs373198034 0.00009
NM_004408.4(DNM1):c.1315G>A (p.Val439Ile) rs771062230 0.00009
NM_004408.4(DNM1):c.797G>A (p.Arg266His) rs200136679 0.00009
NM_004408.4(DNM1):c.1422+18C>T rs747813685 0.00007
NM_004408.4(DNM1):c.1772C>T (p.Thr591Met) rs772239774 0.00007
NM_004408.4(DNM1):c.2541G>A (p.Ser847=) rs545142847 0.00007
NM_004408.4(DNM1):c.1350G>T (p.Pro450=) rs147897973 0.00006
NM_004408.4(DNM1):c.725T>C (p.Ile242Thr) rs138357499 0.00006
NM_004408.4(DNM1):c.796C>T (p.Arg266Cys) rs138053929 0.00006
NM_004408.4(DNM1):c.849+7G>A rs779667787 0.00006
NM_004408.4(DNM1):c.992+13C>A rs762733307 0.00006
NM_004408.4(DNM1):c.1422+6C>T rs773817727 0.00005
NM_004408.4(DNM1):c.1422+7C>A rs761674210 0.00005
NM_004408.4(DNM1):c.1893+12G>A rs376700785 0.00005
NM_004408.4(DNM1):c.2226C>T (p.Ile742=) rs760982623 0.00005
NM_004408.4(DNM1):c.1128+11C>G rs761415279 0.00004
NM_004408.4(DNM1):c.1422+9C>T rs760832551 0.00004
NM_004408.4(DNM1):c.1493+16G>C rs746358072 0.00004
NM_004408.4(DNM1):c.2238C>T (p.Asn746=) rs1057521629 0.00004
NM_004408.4(DNM1):c.2535-20G>C rs753705712 0.00004
NM_004408.4(DNM1):c.850-18C>T rs763158060 0.00004
NM_004408.4(DNM1):c.850-8A>G rs750891102 0.00004
NM_004408.4(DNM1):c.1176C>T (p.Ile392=) rs760314213 0.00003
NM_004408.4(DNM1):c.1197-16C>T rs769415906 0.00003
NM_004408.4(DNM1):c.1261C>T (p.Arg421Ter) rs200535620 0.00003
NM_004408.4(DNM1):c.1335+16G>A rs768442528 0.00003
NM_004408.4(DNM1):c.1390A>G (p.Ile464Val) rs992608425 0.00003
NM_004408.4(DNM1):c.1558-16C>T rs768903530 0.00003
NM_004408.4(DNM1):c.1568A>G (p.Lys523Arg) rs760956595 0.00003
NM_004408.4(DNM1):c.1672-15T>C rs1184633809 0.00003
NM_004408.4(DNM1):c.1722C>T (p.Asp574=) rs1404706727 0.00003
NM_004408.4(DNM1):c.1893+9C>A rs769121301 0.00003
NM_004408.4(DNM1):c.1906-20C>T rs1284100485 0.00003
NM_004408.4(DNM1):c.1917C>T (p.Thr639=) rs528464319 0.00003
NM_004408.4(DNM1):c.678C>G (p.Pro226=) rs150094408 0.00003
NM_004408.4(DNM1):c.812G>A (p.Arg271His) rs201656136 0.00003
NM_004408.4(DNM1):c.1161G>A (p.Glu387=) rs998519750 0.00002
NM_004408.4(DNM1):c.1197-11C>T rs764285452 0.00002
NM_004408.4(DNM1):c.1197-15G>A rs534677463 0.00002
NM_004408.4(DNM1):c.1380G>C (p.Val460=) rs749564973 0.00002
NM_004408.4(DNM1):c.1401C>T (p.Arg467=) rs527820256 0.00002
NM_004408.4(DNM1):c.1423-14A>G rs765225886 0.00002
NM_004408.4(DNM1):c.1558-17G>T rs749222845 0.00002
NM_004408.4(DNM1):c.1662G>A (p.Lys554=) rs371589347 0.00002
NM_004408.4(DNM1):c.1755C>T (p.Ile585=) rs759079310 0.00002
NM_004408.4(DNM1):c.1860C>T (p.Phe620=) rs1050799692 0.00002
NM_004408.4(DNM1):c.1886G>A (p.Arg629His) rs778378392 0.00002
NM_004408.4(DNM1):c.1933G>A (p.Asp645Asn) rs754501788 0.00002
NM_004408.4(DNM1):c.2133G>A (p.Gln711=) rs1277551348 0.00002
NM_004408.4(DNM1):c.2586C>T (p.Phe862=) rs560349998 0.00002
NM_004408.4(DNM1):c.689-8G>T rs760856978 0.00002
NM_004408.4(DNM1):c.702G>A (p.Val234=) rs754094661 0.00002
NM_004408.4(DNM1):c.774C>G (p.Phe258Leu) rs146211149 0.00002
NM_004408.4(DNM1):c.850-17C>G rs764505046 0.00002
NM_004408.4(DNM1):c.1011C>T (p.Ala337=) rs753714670 0.00001
NM_004408.4(DNM1):c.1053C>T (p.Ile351=) rs1420306273 0.00001
NM_004408.4(DNM1):c.1098C>T (p.Phe366=) rs532535557 0.00001
NM_004408.4(DNM1):c.1101C>T (p.His367=) rs747430397 0.00001
NM_004408.4(DNM1):c.1116C>T (p.Phe372=) rs367584321 0.00001
NM_004408.4(DNM1):c.1137T>C (p.Phe379=) rs1835101654 0.00001
NM_004408.4(DNM1):c.1146G>A (p.Lys382=) rs150617335 0.00001
NM_004408.4(DNM1):c.1155A>C (p.Arg385=) rs140703430 0.00001
NM_004408.4(DNM1):c.1196+14C>T rs372024347 0.00001
NM_004408.4(DNM1):c.1196+4C>T rs1445161696 0.00001
NM_004408.4(DNM1):c.1197-4T>C rs1004698189 0.00001
NM_004408.4(DNM1):c.1197-6G>A rs767877912 0.00001
NM_004408.4(DNM1):c.1199C>T (p.Thr400Met) rs750618124 0.00001
NM_004408.4(DNM1):c.1262G>A (p.Arg421Gln) rs769689269 0.00001
NM_004408.4(DNM1):c.1268C>T (p.Pro423Leu) rs1373361613 0.00001
NM_004408.4(DNM1):c.1269G>A (p.Pro423=) rs1436554330 0.00001
NM_004408.4(DNM1):c.1298C>T (p.Ser433Leu) rs762000203 0.00001
NM_004408.4(DNM1):c.1330A>G (p.Lys444Glu) rs756764400 0.00001
NM_004408.4(DNM1):c.1335+7C>T rs201230726 0.00001
NM_004408.4(DNM1):c.1336-15C>T rs764771425 0.00001
NM_004408.4(DNM1):c.1336-7T>C rs550764968 0.00001
NM_004408.4(DNM1):c.1356A>G (p.Leu452=) rs756954152 0.00001
NM_004408.4(DNM1):c.1358G>A (p.Arg453Gln) rs750296552 0.00001
NM_004408.4(DNM1):c.1359G>A (p.Arg453=) rs968662562 0.00001
NM_004408.4(DNM1):c.1399C>T (p.Arg467Cys) rs769485700 0.00001
NM_004408.4(DNM1):c.1409G>A (p.Arg470His) rs763830358 0.00001
NM_004408.4(DNM1):c.1422+10G>A rs375886288 0.00001
NM_004408.4(DNM1):c.1422+16C>T rs766488967 0.00001
NM_004408.4(DNM1):c.1423-8C>A rs555786484 0.00001
NM_004408.4(DNM1):c.1443C>T (p.Ile481=) rs778321233 0.00001
NM_004408.4(DNM1):c.1494-10C>T rs772807242 0.00001
NM_004408.4(DNM1):c.1494-15C>T rs375232749 0.00001
NM_004408.4(DNM1):c.1524G>A (p.Lys508=) rs1057523085 0.00001
NM_004408.4(DNM1):c.1545+6T>C rs368249222 0.00001
NM_004408.4(DNM1):c.1558-3C>T rs546517702 0.00001
NM_004408.4(DNM1):c.1671+11G>C rs377034879 0.00001
NM_004408.4(DNM1):c.1743G>A (p.Ser581=) rs776254391 0.00001
NM_004408.4(DNM1):c.1889T>C (p.Val630Ala) rs1295777740 0.00001
NM_004408.4(DNM1):c.1891G>C (p.Gly631Arg) rs1333859821 0.00001
NM_004408.4(DNM1):c.1894-5C>G rs1836928538 0.00001
NM_004408.4(DNM1):c.1906-6T>C rs138961089 0.00001
NM_004408.4(DNM1):c.1932C>T (p.Ser644=) rs750934085 0.00001
NM_004408.4(DNM1):c.1956C>T (p.Asp652=) rs1564353077 0.00001
NM_004408.4(DNM1):c.2070T>A (p.Ile690=) rs1019671226 0.00001
NM_004408.4(DNM1):c.2076+17A>G rs1361466672 0.00001
NM_004408.4(DNM1):c.2076+4C>T rs374379668 0.00001
NM_004408.4(DNM1):c.2113C>T (p.Leu705=) rs752228958 0.00001
NM_004408.4(DNM1):c.2163G>A (p.Gln721=) rs146678077 0.00001
NM_004408.4(DNM1):c.2173C>T (p.Arg725Cys) rs1414107946 0.00001
NM_004408.4(DNM1):c.2178C>A (p.Asp726Glu) rs745835138 0.00001
NM_004408.4(DNM1):c.2527G>A (p.Val843Ile) rs1006999214 0.00001
NM_004408.4(DNM1):c.2536C>T (p.Arg846Ter) rs752575279 0.00001
NM_004408.4(DNM1):c.2561G>A (p.Arg854His) rs781345149 0.00001
NM_004408.4(DNM1):c.595C>T (p.Arg199Cys) rs1485891906 0.00001
NM_004408.4(DNM1):c.603C>T (p.Ile201=) rs1484030185 0.00001
NM_004408.4(DNM1):c.624C>T (p.Asp208=) rs1395270062 0.00001
NM_004408.4(DNM1):c.633C>T (p.Asp211=) rs1043525791 0.00001
NM_004408.4(DNM1):c.650G>A (p.Arg217His) rs753953686 0.00001
NM_004408.4(DNM1):c.695T>C (p.Ile232Thr) rs766504829 0.00001
NM_004408.4(DNM1):c.720G>A (p.Lys240=) rs969868074 0.00001
NM_004408.4(DNM1):c.748G>A (p.Ala250Thr) rs1422655933 0.00001
NM_004408.4(DNM1):c.775T>C (p.Phe259Leu) rs1431736054 0.00001
NM_004408.4(DNM1):c.804G>A (p.Leu268=) rs771201307 0.00001
NM_004408.4(DNM1):c.822G>A (p.Thr274=) rs765410948 0.00001
NM_004408.4(DNM1):c.827A>G (p.Tyr276Cys) rs752917058 0.00001
NM_004408.4(DNM1):c.853C>T (p.Leu285=) rs546034278 0.00001
NM_004408.4(DNM1):c.882G>A (p.Pro294=) rs559572430 0.00001
NM_004408.4(DNM1):c.890G>A (p.Arg297Gln) rs1321080189 0.00001
NM_004408.4(DNM1):c.920T>C (p.Ile307Thr) rs1052613908 0.00001
NM_004408.4(DNM1):c.924G>A (p.Glu308=) rs1364961903 0.00001
NM_004408.4(DNM1):c.946A>G (p.Asn316Asp) rs1214581005 0.00001
NM_004408.4(DNM1):c.990G>T (p.Leu330=) rs761236543 0.00001
NM_004408.4(DNM1):c.992+18C>T rs1320762709 0.00001
NM_004408.4(DNM1):c.992+19C>T rs1375346310 0.00001
NC_000009.11:g.(?_130980490)_(130996406_?)del
NC_000009.11:g.(?_131016913)_(131016993_?)del
NC_000009.12:g.(?_128234001)_(128234127_?)del
NM_004408.4(DNM1):c.1012G>A (p.Val338Ile)
NM_004408.4(DNM1):c.1020T>C (p.Phe340=) rs2131173713
NM_004408.4(DNM1):c.1021G>A (p.Glu341Lys)
NM_004408.4(DNM1):c.1028G>A (p.Arg343His)
NM_004408.4(DNM1):c.1035G>A (p.Glu345=)
NM_004408.4(DNM1):c.1036G>A (p.Gly346Ser) rs1554774575
NM_004408.4(DNM1):c.1047T>G (p.Asp349Glu) rs1247861339
NM_004408.4(DNM1):c.1054G>A (p.Asp352Asn) rs148695604
NM_004408.4(DNM1):c.1061A>G (p.Tyr354Cys)
NM_004408.4(DNM1):c.1075G>A (p.Gly359Arg) rs1554774587
NM_004408.4(DNM1):c.1076G>A (p.Gly359Glu)
NM_004408.4(DNM1):c.1076G>C (p.Gly359Ala) rs587777862
NM_004408.4(DNM1):c.1081C>G (p.Arg361Gly) rs1835085971
NM_004408.4(DNM1):c.1089C>T (p.Asn363=) rs1377650055
NM_004408.4(DNM1):c.1090_1091insTTCCAC (p.Asn363_Arg364insLeuPro) rs1564332930
NM_004408.4(DNM1):c.1100A>C (p.His367Pro)
NM_004408.4(DNM1):c.1102G>A (p.Glu368Lys) rs1835087040
NM_004408.4(DNM1):c.1104G>A (p.Glu368=)
NM_004408.4(DNM1):c.1116C>G (p.Phe372Leu) rs367584321
NM_004408.4(DNM1):c.1123G>A (p.Val375Ile) rs2131174031
NM_004408.4(DNM1):c.1125C>A (p.Val375=) rs760118978
NM_004408.4(DNM1):c.1128+12A>C
NM_004408.4(DNM1):c.1128+4G>A rs768339660
NM_004408.4(DNM1):c.1129-18C>A
NM_004408.4(DNM1):c.1129-9del rs2131174977
NM_004408.4(DNM1):c.1134G>A (p.Glu378=) rs1365194190
NM_004408.4(DNM1):c.1138G>T (p.Asp380Tyr) rs1835101754
NM_004408.4(DNM1):c.1140T>C (p.Asp380=)
NM_004408.4(DNM1):c.1153C>T (p.Arg385Ter) rs1835102166
NM_004408.4(DNM1):c.1154G>A (p.Arg385Gln) rs1428107171
NM_004408.4(DNM1):c.1180A>C (p.Asn394His) rs1835103161
NM_004408.4(DNM1):c.1182T>C (p.Asn394=) rs1171703565
NM_004408.4(DNM1):c.1195A>T (p.Arg399Ter) rs2131175203
NM_004408.4(DNM1):c.1196+14C>A
NM_004408.4(DNM1):c.1196+16T>C
NM_004408.4(DNM1):c.1196+17G>A
NM_004408.4(DNM1):c.1196+5G>A rs1835103921
NM_004408.4(DNM1):c.1196+7A>C rs955349107
NM_004408.4(DNM1):c.1196+7A>T
NM_004408.4(DNM1):c.1196+8T>C rs1588370851
NM_004408.4(DNM1):c.1197-10G>A
NM_004408.4(DNM1):c.1197-14C>T
NM_004408.4(DNM1):c.1197-16C>G
NM_004408.4(DNM1):c.1197-7C>A rs41306488
NM_004408.4(DNM1):c.1206G>A (p.Leu402=) rs754423616
NM_004408.4(DNM1):c.1207T>C (p.Phe403Leu)
NM_004408.4(DNM1):c.1226T>C (p.Phe409Ser) rs2131181546
NM_004408.4(DNM1):c.1246C>G (p.Gln416Glu) rs866836375
NM_004408.4(DNM1):c.1257G>A (p.Lys419=) rs2131181635
NM_004408.4(DNM1):c.1283T>G (p.Val428Gly)
NM_004408.4(DNM1):c.1299G>A (p.Ser433=)
NM_004408.4(DNM1):c.1303C>T (p.Leu435=)
NM_004408.4(DNM1):c.1329C>G (p.Thr443=) rs2131181922
NM_004408.4(DNM1):c.1335+13C>T
NM_004408.4(DNM1):c.1335+14C>T
NM_004408.4(DNM1):c.1335+15C>G
NM_004408.4(DNM1):c.1335+15C>T rs779719063
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_004408.4(DNM1):c.1335+16G>T rs768442528
NM_004408.4(DNM1):c.1335+1735A>G
NM_004408.4(DNM1):c.1336-18C>T
NM_004408.4(DNM1):c.1336-6C>T rs1400533057
NM_004408.4(DNM1):c.1336-7T>A rs550764968
NM_004408.4(DNM1):c.1336-7T>G rs550764968
NM_004408.4(DNM1):c.1343A>C (p.Gln448Pro)
NM_004408.4(DNM1):c.1344G>A (p.Gln448=) rs1352962318
NM_004408.4(DNM1):c.1345T>C (p.Tyr449His) rs1835857400
NM_004408.4(DNM1):c.1351C>T (p.Arg451Trp)
NM_004408.4(DNM1):c.1352G>A (p.Arg451Gln)
NM_004408.4(DNM1):c.1357C>T (p.Arg453Trp) rs368427334
NM_004408.4(DNM1):c.1358G>T (p.Arg453Leu) rs750296552
NM_004408.4(DNM1):c.1371G>T (p.Glu457Asp) rs1835858946
NM_004408.4(DNM1):c.1372C>T (p.Arg458Cys)
NM_004408.4(DNM1):c.1373G>A (p.Arg458His)
NM_004408.4(DNM1):c.1375A>G (p.Ile459Val) rs2131227049
NM_004408.4(DNM1):c.1377C>T (p.Ile459=) rs756256016
NM_004408.4(DNM1):c.1384A>G (p.Thr462Ala)
NM_004408.4(DNM1):c.1393C>T (p.Arg465Trp) rs772264918
NM_004408.4(DNM1):c.1401C>A (p.Arg467=)
NM_004408.4(DNM1):c.1402G>A (p.Glu468Lys)
NM_004408.4(DNM1):c.1404G>C (p.Glu468Asp)
NM_004408.4(DNM1):c.1416G>A (p.Lys472=) rs1835861637
NM_004408.4(DNM1):c.1422+13G>A
NM_004408.4(DNM1):c.1422+19G>A rs1440002003
NM_004408.4(DNM1):c.1422+19G>T
NM_004408.4(DNM1):c.1422+5del
NM_004408.4(DNM1):c.1422+6_1422+83dup
NM_004408.4(DNM1):c.1422+8C>T
NM_004408.4(DNM1):c.1423-16C>T
NM_004408.4(DNM1):c.1423-16del
NM_004408.4(DNM1):c.1423-17C>T
NM_004408.4(DNM1):c.1424T>C (p.Val475Ala)
NM_004408.4(DNM1):c.1427T>C (p.Met476Thr) rs2131251361
NM_004408.4(DNM1):c.1443C>G (p.Ile481Met)
NM_004408.4(DNM1):c.1461C>T (p.Asn487=) rs1318922555
NM_004408.4(DNM1):c.1462A>G (p.Thr488Ala) rs2131251443
NM_004408.4(DNM1):c.1493+14del rs371426966
NM_004408.4(DNM1):c.1493+17G>A
NM_004408.4(DNM1):c.1493+20A>G
NM_004408.4(DNM1):c.1493+3G>C
NM_004408.4(DNM1):c.1493+5G>A rs752004261
NM_004408.4(DNM1):c.1493+7G>A
NM_004408.4(DNM1):c.1494-11C>T
NM_004408.4(DNM1):c.1494-5A>G rs1836247500
NM_004408.4(DNM1):c.1512C>T (p.Asn504=)
NM_004408.4(DNM1):c.1518G>T (p.Met506Ile)
NM_004408.4(DNM1):c.1523AGA[2] (p.Lys510del) rs763633863
NM_004408.4(DNM1):c.1535C>T (p.Ser512Leu) rs867314420
NM_004408.4(DNM1):c.1545+18C>A
NM_004408.4(DNM1):c.1545G>A (p.Gln515=)
NM_004408.4(DNM1):c.1557+1G>C rs1230944082
NM_004408.4(DNM1):c.1557G>C (p.Leu519=)
NM_004408.4(DNM1):c.1558-13C>T rs2131262430
NM_004408.4(DNM1):c.1565G>C (p.Arg522Pro)
NM_004408.4(DNM1):c.1566C>T (p.Arg522=)
NM_004408.4(DNM1):c.1571G>T (p.Gly524Val)
NM_004408.4(DNM1):c.1615A>G (p.Lys539Glu) rs1554781553
NM_004408.4(DNM1):c.1626del (p.Trp542fs)
NM_004408.4(DNM1):c.1631T>C (p.Val544Ala)
NM_004408.4(DNM1):c.1646A>G (p.Asn549Ser) rs2131262599
NM_004408.4(DNM1):c.1665T>C (p.Asp555=)
NM_004408.4(DNM1):c.1671+7C>G
NM_004408.4(DNM1):c.1671+7C>T
NM_004408.4(DNM1):c.1678G>C (p.Glu560Gln)
NM_004408.4(DNM1):c.1687T>C (p.Tyr563His)
NM_004408.4(DNM1):c.1690A>T (p.Met564Leu) rs2131283540
NM_004408.4(DNM1):c.1698T>C (p.Ser566=) rs749674787
NM_004408.4(DNM1):c.1714C>T (p.Leu572=) rs2131283571
NM_004408.4(DNM1):c.1718G>A (p.Arg573Gln)
NM_004408.4(DNM1):c.1723G>A (p.Val575Met) rs748647924
NM_004408.4(DNM1):c.1726G>A (p.Glu576Lys) rs2131283599
NM_004408.4(DNM1):c.1761C>T (p.Ala587=)
NM_004408.4(DNM1):c.1781+16del
NM_004408.4(DNM1):c.1781+18G>C
NM_004408.4(DNM1):c.1781+4C>A
NM_004408.4(DNM1):c.1781+4C>T
NM_004408.4(DNM1):c.1781+5C>T rs1836821115
NM_004408.4(DNM1):c.1781+9C>T
NM_004408.4(DNM1):c.1782-13C>T
NM_004408.4(DNM1):c.1782-3C>T
NM_004408.4(DNM1):c.1782-8T>C
NM_004408.4(DNM1):c.1786G>A (p.Val596Ile) rs1588449769
NM_004408.4(DNM1):c.1807C>T (p.Leu603=)
NM_004408.4(DNM1):c.1810G>A (p.Glu604Lys) rs1588449811
NM_004408.4(DNM1):c.1850A>G (p.Lys617Arg) rs1564352065
NM_004408.4(DNM1):c.1867G>T (p.Ala623Ser)
NM_004408.4(DNM1):c.1872C>T (p.Gly624=) rs1367619284
NM_004408.4(DNM1):c.1885C>T (p.Arg629Cys)
NM_004408.4(DNM1):c.1888G>A (p.Val630Ile) rs1836896799
NM_004408.4(DNM1):c.1892G>A (p.Gly631Glu)
NM_004408.4(DNM1):c.1893+7G>T rs1157263142
NM_004408.4(DNM1):c.1894-10G>A
NM_004408.4(DNM1):c.1894-8C>T rs912124924
NM_004408.4(DNM1):c.1905+9G>T rs2131289646
NM_004408.4(DNM1):c.1905A>G (p.Lys635=)
NM_004408.4(DNM1):c.1906-12T>C
NM_004408.4(DNM1):c.1906-3C>T
NM_004408.4(DNM1):c.1918G>C (p.Glu640Gln)
NM_004408.4(DNM1):c.1918GAG[1] (p.Glu641del) rs748362979
NM_004408.4(DNM1):c.1920G>A (p.Glu640=) rs1554784647
NM_004408.4(DNM1):c.1928G>A (p.Gly643Asp) rs763245663
NM_004408.4(DNM1):c.1935C>T (p.Asp645=)
NM_004408.4(DNM1):c.1939T>C (p.Phe647Leu)
NM_004408.4(DNM1):c.1943T>C (p.Met648Thr)
NM_004408.4(DNM1):c.1969C>A (p.Arg657=) rs2131291997
NM_004408.4(DNM1):c.1983C>T (p.Thr661=)
NM_004408.4(DNM1):c.1987C>T (p.Arg663Trp)
NM_004408.4(DNM1):c.2009T>C (p.Met670Thr) rs1437208936
NM_004408.4(DNM1):c.2015T>C (p.Ile672Thr)
NM_004408.4(DNM1):c.2022C>T (p.Asn674=)
NM_004408.4(DNM1):c.2028C>G (p.Thr676=) rs1339784958
NM_004408.4(DNM1):c.2028C>T (p.Thr676=) rs1339784958
NM_004408.4(DNM1):c.2029G>C (p.Val677Leu)
NM_004408.4(DNM1):c.2031G>A (p.Val677=) rs1441521036
NM_004408.4(DNM1):c.2043G>A (p.Met681Ile)
NM_004408.4(DNM1):c.2045C>G (p.Pro682Arg)
NM_004408.4(DNM1):c.2055C>A (p.Ile685=)
NM_004408.4(DNM1):c.2057T>C (p.Met686Thr)
NM_004408.4(DNM1):c.2061C>T (p.His687=) rs1026710429
NM_004408.4(DNM1):c.2065A>G (p.Met689Val)
NM_004408.4(DNM1):c.2076+23del rs1237872802
NM_004408.4(DNM1):c.2106G>C (p.Leu702=)
NM_004408.4(DNM1):c.2121G>A (p.Ser707=)
NM_004408.4(DNM1):c.2121G>T (p.Ser707=)
NM_004408.4(DNM1):c.2128G>C (p.Asp710His) rs2131297334
NM_004408.4(DNM1):c.2155G>T (p.Ala719Ser)
NM_004408.4(DNM1):c.2156C>G (p.Ala719Gly) rs1432815882
NM_004408.4(DNM1):c.2156C>T (p.Ala719Val) rs1432815882
NM_004408.4(DNM1):c.2157G>C (p.Ala719=)
NM_004408.4(DNM1):c.2159A>G (p.Glu720Gly) rs1588457823
NM_004408.4(DNM1):c.2164G>T (p.Ala722Ser)
NM_004408.4(DNM1):c.2170C>A (p.Arg724=) rs1386035686
NM_004408.4(DNM1):c.2170C>T (p.Arg724Trp)
NM_004408.4(DNM1):c.2171G>A (p.Arg724Gln) rs1829428293
NM_004408.4(DNM1):c.2178C>T (p.Asp726=)
NM_004408.4(DNM1):c.2187G>A (p.Leu729=) rs749382749
NM_004408.4(DNM1):c.2190C>T (p.Arg730=)
NM_004408.4(DNM1):c.2198A>G (p.His733Arg)
NM_004408.4(DNM1):c.2208G>A (p.Lys736=) rs1829430358
NM_004408.4(DNM1):c.2211G>A (p.Glu737=)
NM_004408.4(DNM1):c.2240C>A (p.Thr747Lys) rs1829432262
NM_004408.4(DNM1):c.2240C>T (p.Thr747Met)
NM_004408.4(DNM1):c.2241G>C (p.Thr747=) rs1184149576
NM_004408.4(DNM1):c.2241G>T (p.Thr747=)
NM_004408.4(DNM1):c.2251A>C (p.Ser751Arg)
NM_004408.4(DNM1):c.2253C>G (p.Ser751Arg) rs754280238
NM_004408.4(DNM1):c.2391C>G (p.Gly797=) rs1057521943
NM_004408.4(DNM1):c.2391C>T (p.Gly797=) rs1057521943
NM_004408.4(DNM1):c.2395G>A (p.Ala799Thr)
NM_004408.4(DNM1):c.2496G>A (p.Val832=) rs2131299802
NM_004408.4(DNM1):c.2510A>C (p.Asn837Thr)
NM_004408.4(DNM1):c.2510A>G (p.Asn837Ser)
NM_004408.4(DNM1):c.2510A>T (p.Asn837Ile)
NM_004408.4(DNM1):c.2526G>T (p.Gly842=) rs1390465556
NM_004408.4(DNM1):c.2531C>G (p.Pro844Arg) rs1564355393
NM_004408.4(DNM1):c.2534+1dup
NM_004408.4(DNM1):c.2534+7A>G
NM_004408.4(DNM1):c.2534G>A (p.Ser845Asn) rs1829479381
NM_004408.4(DNM1):c.2535-17T>C
NM_004408.4(DNM1):c.2535-1G>A
NM_004408.4(DNM1):c.2535-613C>T rs1385389663
NM_004408.4(DNM1):c.2537G>C (p.Arg846Pro) rs758567328
NM_004408.4(DNM1):c.2537G>T (p.Arg846Leu)
NM_004408.4(DNM1):c.2540C>A (p.Ser847Ter)
NM_004408.4(DNM1):c.2541G>T (p.Ser847=)
NM_004408.4(DNM1):c.2542G>A (p.Gly848Ser)
NM_004408.4(DNM1):c.2542_2559dup (p.Gly848_Ser853dup) rs1564358652
NM_004408.4(DNM1):c.2544T>G (p.Gly848=)
NM_004408.4(DNM1):c.2566G>A (p.Glu856Lys)
NM_004408.4(DNM1):c.2576G>A (p.Arg859Lys)
NM_004408.4(DNM1):c.2581C>G (p.Pro861Ala)
NM_004408.4(DNM1):c.2582C>G (p.Pro861Arg) rs187315526
NM_004408.4(DNM1):c.2582C>T (p.Pro861Leu) rs187315526
NM_004408.4(DNM1):c.2583dup (p.Phe862fs) rs1244967245
NM_004408.4(DNM1):c.2584T>G (p.Phe862Val) rs2131314418
NM_004408.4(DNM1):c.2592C>T (p.Leu864=) rs2131314459
NM_004408.4(DNM1):c.2594A>G (p.Ter865=) rs550838267
NM_004408.4(DNM1):c.320G>A (p.Arg107Lys)
NM_004408.4(DNM1):c.599C>T (p.Thr200Ile) rs1834848160
NM_004408.4(DNM1):c.603C>G (p.Ile201Met)
NM_004408.4(DNM1):c.604G>A (p.Gly202Arg) rs1057524561
NM_004408.4(DNM1):c.604G>T (p.Gly202Trp)
NM_004408.4(DNM1):c.609C>T (p.Val203=) rs1430929380
NM_004408.4(DNM1):c.618G>C (p.Lys206Asn) rs587777861
NM_004408.4(DNM1):c.632A>T (p.Asp211Val)
NM_004408.4(DNM1):c.643_646delinsA (p.Asp215_Ala216delinsThr) rs1588355906
NM_004408.4(DNM1):c.644A>T (p.Asp215Val)
NM_004408.4(DNM1):c.646G>A (p.Ala216Thr)
NM_004408.4(DNM1):c.654T>G (p.Asp218Glu)
NM_004408.4(DNM1):c.669G>A (p.Lys223=) rs2131157240
NM_004408.4(DNM1):c.676C>T (p.Pro226Ser)
NM_004408.4(DNM1):c.680T>G (p.Leu227Arg)
NM_004408.4(DNM1):c.682C>T (p.Arg228Cys) rs1444380018
NM_004408.4(DNM1):c.683G>A (p.Arg228His) rs866946278
NM_004408.4(DNM1):c.685A>G (p.Arg229Gly) rs1834851998
NM_004408.4(DNM1):c.688+11C>T rs2131157325
NM_004408.4(DNM1):c.688+13T>C
NM_004408.4(DNM1):c.688+16C>A
NM_004408.4(DNM1):c.688+16C>G
NM_004408.4(DNM1):c.688+17C>T
NM_004408.4(DNM1):c.688+18C>G rs1253064816
NM_004408.4(DNM1):c.688+18C>T
NM_004408.4(DNM1):c.689-11A>T
NM_004408.4(DNM1):c.689-7T>C
NM_004408.4(DNM1):c.689G>A (p.Gly230Asp) rs1834860828
NM_004408.4(DNM1):c.694A>G (p.Ile232Val)
NM_004408.4(DNM1):c.703G>A (p.Val235Met) rs2131157918
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp) rs760270633
NM_004408.4(DNM1):c.718_720del (p.Lys240del)
NM_004408.4(DNM1):c.723C>T (p.Asp241=)
NM_004408.4(DNM1):c.741C>T (p.Asp247=)
NM_004408.4(DNM1):c.745A>G (p.Thr249Ala)
NM_004408.4(DNM1):c.750C>T (p.Ala250=) rs778276496
NM_004408.4(DNM1):c.753C>T (p.Ala251=) rs1834862864
NM_004408.4(DNM1):c.757G>T (p.Ala253Ser) rs752005713
NM_004408.4(DNM1):c.766C>T (p.Arg256Ter) rs1456731322
NM_004408.4(DNM1):c.767G>A (p.Arg256Gln)
NM_004408.4(DNM1):c.767del (p.Arg256fs) rs2131158061
NM_004408.4(DNM1):c.780C>G (p.Leu260=)
NM_004408.4(DNM1):c.786T>A (p.His262Gln) rs1376656660
NM_004408.4(DNM1):c.791C>A (p.Ser264Tyr) rs778811040
NM_004408.4(DNM1):c.792T>A (p.Ser264=)
NM_004408.4(DNM1):c.796C>A (p.Arg266Ser) rs138053929
NM_004408.4(DNM1):c.801C>T (p.His267=)
NM_004408.4(DNM1):c.807T>C (p.Ala269=) rs1261949821
NM_004408.4(DNM1):c.811C>T (p.Arg271Cys) rs1834865373
NM_004408.4(DNM1):c.821C>T (p.Thr274Met) rs1284660372
NM_004408.4(DNM1):c.824C>T (p.Pro275Leu) rs1156961123
NM_004408.4(DNM1):c.825C>G (p.Pro275=) rs1588357060
NM_004408.4(DNM1):c.843C>T (p.Leu281=) rs764376283
NM_004408.4(DNM1):c.845A>G (p.Asn282Ser)
NM_004408.4(DNM1):c.849+10C>A rs2131158360
NM_004408.4(DNM1):c.858G>A (p.Thr286=)
NM_004408.4(DNM1):c.865A>T (p.Ile289Phe) rs1554774401
NM_004408.4(DNM1):c.876A>G (p.Thr292=) rs1194475149
NM_004408.4(DNM1):c.888G>A (p.Leu296=)
NM_004408.4(DNM1):c.889C>T (p.Arg297Trp)
NM_004408.4(DNM1):c.891G>C (p.Arg297=) rs2131172668
NM_004408.4(DNM1):c.898C>T (p.Leu300=)
NM_004408.4(DNM1):c.905G>A (p.Ser302Asn) rs1564332436
NM_004408.4(DNM1):c.909G>A (p.Gln303=)
NM_004408.4(DNM1):c.921T>C (p.Ile307=)
NM_004408.4(DNM1):c.929A>G (p.Glu310Gly) rs1835069996
NM_004408.4(DNM1):c.930G>A (p.Glu310=) rs1272441165
NM_004408.4(DNM1):c.942C>T (p.Tyr314=)
NM_004408.4(DNM1):c.944A>G (p.Lys315Arg) rs1564332523
NM_004408.4(DNM1):c.945G>T (p.Lys315Asn) rs528406413
NM_004408.4(DNM1):c.952C>T (p.Arg318Cys) rs892194903
NM_004408.4(DNM1):c.954C>T (p.Arg318=) rs774518740
NM_004408.4(DNM1):c.956C>T (p.Pro319Leu)
NM_004408.4(DNM1):c.958G>C (p.Asp320His) rs1588368840
NM_004408.4(DNM1):c.963C>A (p.Asp321Glu)
NM_004408.4(DNM1):c.967G>T (p.Ala323Ser)
NM_004408.4(DNM1):c.970C>T (p.Arg324Cys)
NM_004408.4(DNM1):c.985C>G (p.Leu329Val) rs868772525
NM_004408.4(DNM1):c.992+13C>T
NM_004408.4(DNM1):c.992+3G>A
NM_004408.4(DNM1):c.993-13_993-11del
NM_004408.4(DNM1):c.993-17C>T
NM_004408.4(DNM1):c.993-19C>G rs1835081298
NM_004408.4(DNM1):c.993-6C>T rs1196657001
NM_004408.4(DNM1):c.996G>A (p.Met332Ile)

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