ClinVar Miner

List of variants in gene DNM2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 232
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HGVS dbSNP gnomAD frequency
NM_001005361.3(DNM2):c.992+231G>A rs8102648 0.93759
NM_001005361.3(DNM2):c.236-29C>G rs3826803 0.56569
NM_001005361.3(DNM2):c.1128+158G>C rs1610095 0.52451
NM_001005361.3(DNM2):c.1128+169T>C rs2278444 0.34249
NM_001005361.3(DNM2):c.386-173G>T rs4804528 0.32115
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920 0.30148
NM_001005361.3(DNM2):c.1893+248T>C rs67417605 0.29469
NM_001005361.3(DNM2):c.*268A>T rs12461992 0.17591
NM_001005361.3(DNM2):c.2058+262A>G rs12973986 0.15029
NM_001005361.3(DNM2):c.1545+41C>T rs2287029 0.12846
NM_001005361.3(DNM2):c.1893+31_1893+32insC rs138202845 0.06030
NM_001005361.3(DNM2):c.2292-85A>G rs58724234 0.05980
NM_001005361.3(DNM2):c.2058+89G>A rs57561584 0.05978
NM_001005361.3(DNM2):c.161+228C>G rs113305450 0.05204
NM_001005361.3(DNM2):c.1077C>T (p.Gly359=) rs112238216 0.02383
NM_001005361.3(DNM2):c.590-168T>C rs10405772 0.02050
NM_001005361.3(DNM2):c.1894-181G>A rs114589854 0.01671
NM_001005361.3(DNM2):c.2059-136G>C rs8109524 0.01465
NM_001005361.3(DNM2):c.1557+193G>A rs146942869 0.01227
NM_001005361.3(DNM2):c.1671+283G>A rs60053169 0.01210
NM_001005361.3(DNM2):c.1493+252C>G rs117843888 0.01128
NM_001005361.3(DNM2):c.2484G>A (p.Pro828=) rs114682382 0.01064
NM_001005361.3(DNM2):c.2291+153G>A rs113951641 0.01022
NM_001005361.3(DNM2):c.235+12C>A rs147026993 0.00953
NM_001005361.3(DNM2):c.385+60A>G rs116398690 0.00870
NM_001005361.3(DNM2):c.1782-11C>T rs78580529 0.00859
NM_001005361.3(DNM2):c.1197-940A>G rs79068463 0.00853
NM_001005361.3(DNM2):c.1336-196C>G rs180679346 0.00751
NM_001005361.3(DNM2):c.235+6A>G rs113192269 0.00748
NM_001005361.3(DNM2):c.161+248G>C rs75654370 0.00745
NM_001005361.3(DNM2):c.1197-242G>T rs115609558 0.00668
NM_001005361.3(DNM2):c.1335+324C>G rs115672648 0.00630
NM_001005361.3(DNM2):c.1196+773C>T rs150975494 0.00589
NM_001005361.3(DNM2):c.*47G>A rs367938944 0.00550
NM_001005361.3(DNM2):c.1336-82C>T rs148385341 0.00535
NM_001005361.3(DNM2):c.1672-337G>A rs75646078 0.00495
NM_001005361.3(DNM2):c.1557+63C>T rs114229076 0.00425
NM_001005361.3(DNM2):c.2543+7C>G rs201979143 0.00364
NM_001005361.3(DNM2):c.236-8C>G rs143084059 0.00361
NM_001005361.3(DNM2):c.589+139T>C rs142918508 0.00360
NM_001005361.3(DNM2):c.589+86G>A rs146877273 0.00358
NM_001005361.3(DNM2):c.1128+241A>G rs56274124 0.00352
NM_001005361.3(DNM2):c.1558-213G>C rs191714992 0.00352
NM_001005361.3(DNM2):c.1545+14C>G rs114713494 0.00350
NM_001005361.3(DNM2):c.1196+158A>C rs186856304 0.00347
NM_001005361.3(DNM2):c.519T>C (p.Ala173=) rs77702567 0.00325
NM_001005361.3(DNM2):c.589+132T>C rs80295112 0.00325
NM_001005361.3(DNM2):c.589+159C>T rs151092170 0.00325
NM_001005361.3(DNM2):c.2544-235C>T rs139137394 0.00308
NM_001005361.3(DNM2):c.689-103C>T rs112762923 0.00296
NM_001005361.3(DNM2):c.1546-73C>T rs141100592 0.00253
NM_001005361.3(DNM2):c.850-53C>T rs527643558 0.00253
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile) rs144250390 0.00243
NM_001005361.3(DNM2):c.1781+17C>A rs75344643 0.00220
NM_001005361.3(DNM2):c.2160C>T (p.Asp720=) rs117598326 0.00163
NM_001005361.3(DNM2):c.643G>A (p.Asp215Asn) rs145478270 0.00161
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=) rs2229919 0.00141
NM_001005361.3(DNM2):c.386-6T>A rs114623441 0.00118
NM_001005361.3(DNM2):c.1218C>T (p.Asp406=) rs147668465 0.00116
NM_001005361.3(DNM2):c.1782-5C>T rs200103145 0.00113
NM_001005361.3(DNM2):c.2061G>A (p.Thr687=) rs149164657 0.00097
NM_001005361.3(DNM2):c.788C>T (p.Pro263Leu) rs3745674 0.00043
NM_001005361.3(DNM2):c.*10G>A rs200188660 0.00035
NM_001005361.3(DNM2):c.2511G>A (p.Arg837=) rs200100669 0.00029
NM_001005361.3(DNM2):c.589+17G>T rs374377836 0.00028
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.2567G>A (p.Ser856Asn) rs149825590 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.2592C>T (p.Ala864=) rs373161548 0.00014
NM_001005361.3(DNM2):c.789G>A (p.Pro263=) rs199976453 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.1827C>T (p.Ser609=) rs371412466 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.*14C>T rs369529119 0.00010
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.666C>T (p.Asn222=) rs2229921 0.00009
NM_001005361.3(DNM2):c.876G>A (p.Ser292=) rs749140605 0.00008
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.2201A>G (p.Asn734Ser) rs577767034 0.00006
NM_001005361.3(DNM2):c.312G>A (p.Glu104=) rs144970326 0.00006
NM_001005361.3(DNM2):c.450A>G (p.Pro150=) rs766121627 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.1969C>T (p.Arg657Cys) rs772920450 0.00005
NM_001005361.3(DNM2):c.2231T>C (p.Val744Ala) rs777609224 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.162-16T>C rs573469750 0.00004
NM_001005361.3(DNM2):c.1893+17C>T rs45585238 0.00004
NM_001005361.3(DNM2):c.1990G>A (p.Val664Met) rs757366208 0.00004
NM_001005361.3(DNM2):c.2016C>T (p.Arg672=) rs368131004 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.2292-15T>A rs534518685 0.00004
NM_001005361.3(DNM2):c.2418G>A (p.Ala806=) rs200968756 0.00004
NM_001005361.3(DNM2):c.869G>A (p.Arg290Gln) rs117398902 0.00004
NM_001005361.3(DNM2):c.1032C>T (p.Ile344=) rs747050783 0.00003
NM_001005361.3(DNM2):c.1196+643C>T rs563985581 0.00003
NM_001005361.3(DNM2):c.1423-9C>G rs371006369 0.00003
NM_001005361.3(DNM2):c.2031G>A (p.Lys677=) rs768285660 0.00003
NM_001005361.3(DNM2):c.2523G>T (p.Gly841=) rs1028907663 0.00003
NM_001005361.3(DNM2):c.677C>T (p.Pro226Leu) rs779734638 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.1196+710G>A rs140208362 0.00002
NM_001005361.3(DNM2):c.1423-13C>T rs771343870 0.00002
NM_001005361.3(DNM2):c.162-12C>T rs746299224 0.00002
NM_001005361.3(DNM2):c.1836C>T (p.Asp612=) rs767061986 0.00002
NM_001005361.3(DNM2):c.1912G>A (p.Ala638Thr) rs587778236 0.00002
NM_001005361.3(DNM2):c.654C>T (p.Asp218=) rs763948283 0.00002
NM_001005361.3(DNM2):c.1004A>T (p.Gln335Leu) rs759996048 0.00001
NM_001005361.3(DNM2):c.1071C>T (p.Ser357=) rs779241319 0.00001
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp) rs121909090 0.00001
NM_001005361.3(DNM2):c.1128+13G>A rs772437963 0.00001
NM_001005361.3(DNM2):c.1196+698C>A rs879253980 0.00001
NM_001005361.3(DNM2):c.1352G>A (p.Arg451Gln) rs749154067 0.00001
NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln) rs776126973 0.00001
NM_001005361.3(DNM2):c.1418A>T (p.Asp473Val) rs766613900 0.00001
NM_001005361.3(DNM2):c.1423-4C>T rs552776205 0.00001
NM_001005361.3(DNM2):c.1494-19G>T rs1032876620 0.00001
NM_001005361.3(DNM2):c.1512G>A (p.Thr504=) rs767407905 0.00001
NM_001005361.3(DNM2):c.162-6del rs766449694 0.00001
NM_001005361.3(DNM2):c.1665T>C (p.Asp555=) rs1555713814 0.00001
NM_001005361.3(DNM2):c.1758C>T (p.Phe586=) rs766274376 0.00001
NM_001005361.3(DNM2):c.183A>G (p.Ser61=) rs149555942 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.1894-9C>T rs377410182 0.00001
NM_001005361.3(DNM2):c.1907A>G (p.Asp636Gly) rs749994173 0.00001
NM_001005361.3(DNM2):c.1973A>G (p.Asn658Ser) rs753175954 0.00001
NM_001005361.3(DNM2):c.2035A>G (p.Ile679Val) rs1381561772 0.00001
NM_001005361.3(DNM2):c.2153G>A (p.Arg718Gln) rs753677038 0.00001
NM_001005361.3(DNM2):c.2173A>G (p.Met725Val) rs757876109 0.00001
NM_001005361.3(DNM2):c.2434C>T (p.Arg812Trp) rs2073292486 0.00001
NM_001005361.3(DNM2):c.243C>T (p.Ala81=) rs755366581 0.00001
NM_001005361.3(DNM2):c.2544-19G>A rs769617279 0.00001
NM_001005361.3(DNM2):c.402C>T (p.Leu134=) rs748069348 0.00001
NM_001005361.3(DNM2):c.471G>A (p.Lys157=) rs757708760 0.00001
NM_001005361.3(DNM2):c.496C>T (p.Arg166Trp) rs1366377441 0.00001
NM_001005361.3(DNM2):c.634G>A (p.Glu212Lys) rs759683244 0.00001
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn) rs1217925152 0.00001
NM_001005361.3(DNM2):c.821C>T (p.Thr274Met) rs746387165 0.00001
NM_001005361.3(DNM2):c.858C>G (p.Thr286=) rs542637338 0.00001
NC_000019.10:g.10717821dup rs35784277
NM_001005361.3(DNM2):c.1020T>G (p.Phe340Leu) rs2513224265
NM_001005361.3(DNM2):c.1051G>A (p.Val351Met) rs876661176
NM_001005361.3(DNM2):c.1070C>T (p.Ser357Phe) rs1064793101
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001005361.3(DNM2):c.1091G>T (p.Arg364Leu) rs2071835414
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
NM_001005361.3(DNM2):c.1106G>T (p.Arg369Leu) rs121909089
NM_001005361.3(DNM2):c.1196+740G>T rs2146026442
NM_001005361.3(DNM2):c.1197-62G>C rs74718485
NM_001005361.3(DNM2):c.1336-258TGCCTCC[3] rs528685725
NM_001005361.3(DNM2):c.1370A>G (p.Glu457Gly) rs1555711301
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001005361.3(DNM2):c.1399C>T (p.Arg467Trp)
NM_001005361.3(DNM2):c.1493+16G>A rs1446097383
NM_001005361.3(DNM2):c.1493A>C (p.Asn498Thr) rs886054140
NM_001005361.3(DNM2):c.1494-43C>G rs2287028
NM_001005361.3(DNM2):c.1545+11C>T rs1555712626
NM_001005361.3(DNM2):c.1546-18A>C rs1426762153
NM_001005361.3(DNM2):c.1557+9A>T rs778469445
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001005361.3(DNM2):c.1565G>T (p.Arg522Leu) rs587783595
NM_001005361.3(DNM2):c.1584C>T (p.Ile528=) rs935512495
NM_001005361.3(DNM2):c.1594A>G (p.Ser532Gly) rs368752035
NM_001005361.3(DNM2):c.1609G>A (p.Gly537Ser) rs121909093
NM_001005361.3(DNM2):c.162-7C>A rs148318860
NM_001005361.3(DNM2):c.162-7C>T rs148318860
NM_001005361.3(DNM2):c.162-9C>G rs200736669
NM_001005361.3(DNM2):c.1663G>C (p.Asp555His)
NM_001005361.3(DNM2):c.1671+325G>T rs147796686
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.1739T>C (p.Met580Thr) rs1269225724
NM_001005361.3(DNM2):c.1781+71CACTGAG[3] rs142612564
NM_001005361.3(DNM2):c.1782-4G>C rs767424969
NM_001005361.3(DNM2):c.1782-5del rs760441017
NM_001005361.3(DNM2):c.1782-5dup rs760441017
NM_001005361.3(DNM2):c.1782-7C>A rs200843089
NM_001005361.3(DNM2):c.1809C>G (p.Ile603Met) rs780409124
NM_001005361.3(DNM2):c.1852G>A (p.Ala618Thr) rs773598203
NM_001005361.3(DNM2):c.1856C>G (p.Ser619Trp) rs121909095
NM_001005361.3(DNM2):c.1879C>G (p.Pro627Ala) rs886039704
NM_001005361.3(DNM2):c.1880C>G (p.Pro627Arg) rs587783598
NM_001005361.3(DNM2):c.1903G>A (p.Glu635Lys) rs761198315
NM_001005361.3(DNM2):c.1934T>C (p.Met645Thr) rs879253969
NM_001005361.3(DNM2):c.1966A>T (p.Ile656Phe) rs776410455
NM_001005361.3(DNM2):c.2058+292A>C rs576987452
NM_001005361.3(DNM2):c.2066C>T (p.Ala689Val) rs2073245806
NM_001005361.3(DNM2):c.2201A>T (p.Asn734Ile) rs577767034
NM_001005361.3(DNM2):c.2256C>G (p.Val752=) rs751020224
NM_001005361.3(DNM2):c.2269C>A (p.Leu757Ile) rs375820696
NM_001005361.3(DNM2):c.2317T>C (p.Ser773Pro)
NM_001005361.3(DNM2):c.235+12C>T rs147026993
NM_001005361.3(DNM2):c.235+240dup rs113004875
NM_001005361.3(DNM2):c.2365C>G (p.Pro789Ala) rs876661218
NM_001005361.3(DNM2):c.2479G>A (p.Ala827Thr) rs1599641452
NM_001005361.3(DNM2):c.2543+140G>T rs190422103
NM_001005361.3(DNM2):c.2576_2581del (p.Thr859_Ile860del) rs876661117
NM_001005361.3(DNM2):c.2593_*3del (p.Glu865_Ter871del) rs2513383258
NM_001005361.3(DNM2):c.386-5C>G rs1456914211
NM_001005361.3(DNM2):c.589+274C>G rs111624191
NM_001005361.3(DNM2):c.589+274C>T rs111624191
NM_001005361.3(DNM2):c.590-31CCTCTGA[3] rs748362325
NM_001005361.3(DNM2):c.688+15del rs1555706470
NM_001005361.3(DNM2):c.736A>T (p.Lys246Ter) rs1555707649
NM_001005361.3(DNM2):c.782C>T (p.Ser261Phe)
NM_001005361.3(DNM2):c.794A>G (p.Tyr265Cys) rs2145960453
NM_001005361.3(DNM2):c.831G>A (p.Leu277=) rs1555707690
NM_001005361.3(DNM2):c.953G>A (p.Arg318Gln) rs879254323
NM_001005361.3(DNM2):c.956C>T (p.Pro319Leu) rs2145978158
NM_001005361.3(DNM2):c.992A>G (p.Gln331Arg) rs879254084

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