ClinVar Miner

List of variants in gene DNM1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 158
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HGVS dbSNP gnomAD frequency
NM_004408.4(DNM1):c.1672-194A>G rs3003617 0.99265
NM_004408.4(DNM1):c.850-46C>A rs3003608 0.53849
NM_004408.4(DNM1):c.1335+1948C>T rs3003612 0.48393
NM_004408.4(DNM1):c.689-44C>T rs3003606 0.42756
NM_004408.4(DNM1):c.1008C>T (p.Phe336=) rs3003609 0.41986
NM_004408.4(DNM1):c.1423-32G>C rs10987942 0.38016
NM_004408.4(DNM1):c.2535-1654G>A rs2267958 0.37473
NM_004408.4(DNM1):c.2077-138T>C rs12343000 0.28052
NM_004408.4(DNM1):c.1335+1947C>A rs77264652 0.16583
NM_004408.4(DNM1):c.1671+241C>T rs28494699 0.10431
NM_004408.4(DNM1):c.1671+242C>T rs28616043 0.10292
NM_004408.4(DNM1):c.1062C>T (p.Tyr354=) rs35048348 0.08186
NM_004408.4(DNM1):c.1906-136A>G rs2302425 0.07509
NM_004408.4(DNM1):c.2535-1604G>T rs2267957 0.06883
NM_004408.4(DNM1):c.1782-265T>A rs12683712 0.06620
NM_004408.4(DNM1):c.2076+142T>C rs62587117 0.06530
NM_004408.4(DNM1):c.2076+168G>A rs62587118 0.06521
NM_004408.4(DNM1):c.1781+216T>C rs200444247 0.05971
NM_004408.4(DNM1):c.1781+217T>C rs201615828 0.05716
NM_004408.4(DNM1):c.1335+1493C>T rs7024409 0.04541
NM_004408.4(DNM1):c.1336-231G>A rs28514594 0.04120
NM_004408.4(DNM1):c.1422+292A>G rs149013231 0.04098
NM_004408.4(DNM1):c.1422+189T>C rs114297011 0.04091
NM_004408.4(DNM1):c.1557+224C>T rs56092842 0.03931
NM_004408.4(DNM1):c.1558-315A>G rs76021274 0.03318
NM_004408.4(DNM1):c.1782-186G>A rs117907146 0.02699
NM_004408.4(DNM1):c.1557+192G>A rs740943 0.01886
NM_004408.4(DNM1):c.2535-91G>A rs116177116 0.01074
NM_004408.4(DNM1):c.2077-256_2077-255del rs148263791 0.01030
NM_004408.4(DNM1):c.2077-279_2077-278insG rs558248028 0.01016
NM_004408.4(DNM1):c.1906-156A>G rs114207651 0.01010
NM_004408.4(DNM1):c.1905+222C>T rs145755265 0.00974
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.1558-272G>T rs146849993 0.00835
NM_004408.4(DNM1):c.1672-269G>A rs529729927 0.00729
NM_004408.4(DNM1):c.1197-182C>A rs150630047 0.00590
NM_004408.4(DNM1):c.1557+267T>C rs117869212 0.00588
NM_004408.4(DNM1):c.1197-330C>T rs182297664 0.00586
NM_004408.4(DNM1):c.1781+66G>C rs115492588 0.00574
NM_004408.4(DNM1):c.2535-117C>T rs140400419 0.00481
NM_004408.4(DNM1):c.1423-155G>A rs565923078 0.00445
NM_004408.4(DNM1):c.2076+107G>A rs7874719 0.00394
NM_004408.4(DNM1):c.850-23C>G rs182060568 0.00345
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.849+95T>G rs139408895 0.00199
NM_004408.4(DNM1):c.1764C>T (p.Leu588=) rs111534551 0.00186
NM_004408.4(DNM1):c.1893+209G>C rs185477747 0.00135
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.1707C>T (p.Asn569=) rs145318071 0.00039
NM_004408.4(DNM1):c.1437C>T (p.Ile479=) rs141788807 0.00036
NM_004408.4(DNM1):c.1335+1634C>T rs377716564 0.00034
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.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.796C>T (p.Arg266Cys) rs138053929 0.00006
NM_004408.4(DNM1):c.992+13C>A rs762733307 0.00006
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.1493+16G>C rs746358072 0.00004
NM_004408.4(DNM1):c.2238C>T (p.Asn746=) rs1057521629 0.00004
NM_004408.4(DNM1):c.850-18C>T rs763158060 0.00004
NM_004408.4(DNM1):c.1176C>T (p.Ile392=) rs760314213 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.1893+9C>A rs769121301 0.00003
NM_004408.4(DNM1):c.1197-15G>A rs534677463 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.1755C>T (p.Ile585=) rs759079310 0.00002
NM_004408.4(DNM1):c.1933G>A (p.Asp645Asn) rs754501788 0.00002
NM_004408.4(DNM1):c.850-17C>G rs764505046 0.00002
NM_004408.4(DNM1):c.1053C>T (p.Ile351=) rs1420306273 0.00001
NM_004408.4(DNM1):c.1186C>T (p.His396Tyr) rs1835103565 0.00001
NM_004408.4(DNM1):c.1196+14C>T rs372024347 0.00001
NM_004408.4(DNM1):c.1408C>T (p.Arg470Cys) rs762553379 0.00001
NM_004408.4(DNM1):c.1422+3G>A rs1280163668 0.00001
NM_004408.4(DNM1):c.1524G>A (p.Lys508=) rs1057523085 0.00001
NM_004408.4(DNM1):c.1558-14C>T rs971301728 0.00001
NM_004408.4(DNM1):c.1558-3C>T rs546517702 0.00001
NM_004408.4(DNM1):c.1743G>A (p.Ser581=) rs776254391 0.00001
NM_004408.4(DNM1):c.1906-6T>C rs138961089 0.00001
NM_004408.4(DNM1):c.2178C>A (p.Asp726Glu) rs745835138 0.00001
NM_004408.4(DNM1):c.2536C>T (p.Arg846Ter) rs752575279 0.00001
NM_004408.4(DNM1):c.633C>T (p.Asp211=) rs1043525791 0.00001
NM_004408.4(DNM1):c.788C>T (p.Pro263Leu) rs930963855 0.00001
NM_004408.4(DNM1):c.822G>A (p.Thr274=) rs765410948 0.00001
NM_004408.4(DNM1):c.890G>A (p.Arg297Gln) rs1321080189 0.00001
NM_004408.4(DNM1):c.*19C>T rs1057523362
NM_004408.4(DNM1):c.1005G>A (p.Gln335=) rs1554774560
NM_004408.4(DNM1):c.1025del (p.Lys342fs)
NM_004408.4(DNM1):c.1027C>T (p.Arg343Cys)
NM_004408.4(DNM1):c.1037G>A (p.Gly346Asp)
NM_004408.4(DNM1):c.1037G>T (p.Gly346Val) rs1064794903
NM_004408.4(DNM1):c.1072G>T (p.Gly358Trp) rs1064794828
NM_004408.4(DNM1):c.1082G>A (p.Arg361His) rs1172228858
NM_004408.4(DNM1):c.1102G>A (p.Glu368Lys) rs1835087040
NM_004408.4(DNM1):c.1129-14G>A rs1588370648
NM_004408.4(DNM1):c.1169A>C (p.Tyr390Ser) rs1064795538
NM_004408.4(DNM1):c.1181A>G (p.Asn394Ser)
NM_004408.4(DNM1):c.1282G>A (p.Val428Met) rs868805405
NM_004408.4(DNM1):c.1324T>C (p.Cys442Arg)
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_004408.4(DNM1):c.1335+93G>T rs115750361
NM_004408.4(DNM1):c.1371G>T (p.Glu457Asp) rs1835858946
NM_004408.4(DNM1):c.1393C>T (p.Arg465Trp) rs772264918
NM_004408.4(DNM1):c.1409G>C (p.Arg470Pro)
NM_004408.4(DNM1):c.1422+9C>G rs760832551
NM_004408.4(DNM1):c.1468C>G (p.His490Asp)
NM_004408.4(DNM1):c.1493+14del rs371426966
NM_004408.4(DNM1):c.1493+4A>T
NM_004408.4(DNM1):c.1493+53GT[19] rs34036148
NM_004408.4(DNM1):c.1493+53GT[21] rs34036148
NM_004408.4(DNM1):c.1493+53GT[22] rs34036148
NM_004408.4(DNM1):c.1493+53GT[23] rs34036148
NM_004408.4(DNM1):c.1493+53GT[24] rs34036148
NM_004408.4(DNM1):c.1493+53GT[26] rs34036148
NM_004408.4(DNM1):c.1545+27G>A rs76202430
NM_004408.4(DNM1):c.1557+16G>A rs1554780910
NM_004408.4(DNM1):c.1558-20_1558-18del rs1193085933
NM_004408.4(DNM1):c.1587T>A (p.Asn529Lys)
NM_004408.4(DNM1):c.1603A>G (p.Lys535Glu) rs1554781545
NM_004408.4(DNM1):c.1607G>A (p.Gly536Glu) rs754404446
NM_004408.4(DNM1):c.1672-148C>G rs186892072
NM_004408.4(DNM1):c.1723G>A (p.Val575Met) rs748647924
NM_004408.4(DNM1):c.1782-144GA[4] rs35149422
NM_004408.4(DNM1):c.1872C>T (p.Gly624=) rs1367619284
NM_004408.4(DNM1):c.1893+16A>C rs774161718
NM_004408.4(DNM1):c.1905+133C>G rs112610495
NM_004408.4(DNM1):c.1920G>A (p.Glu640=) rs1554784647
NM_004408.4(DNM1):c.1973A>T (p.Gln658Leu)
NM_004408.4(DNM1):c.1987C>A (p.Arg663=) rs777360250
NM_004408.4(DNM1):c.2009T>C (p.Met670Thr) rs1437208936
NM_004408.4(DNM1):c.2076+5G>A rs1829321597
NM_004408.4(DNM1):c.2154_2166delinsCAT (p.Ala719fs)
NM_004408.4(DNM1):c.2197_2199dup (p.His733_Ala734insHis)
NM_004408.4(DNM1):c.2391C>T (p.Gly797=) rs1057521943
NM_004408.4(DNM1):c.2534+2T>G
NM_004408.4(DNM1):c.604G>A (p.Gly202Arg) rs1057524561
NM_004408.4(DNM1):c.612C>T (p.Ile204=) rs1057523005
NM_004408.4(DNM1):c.679dup (p.Leu227fs)
NM_004408.4(DNM1):c.683G>A (p.Arg228His) rs866946278
NM_004408.4(DNM1):c.701T>G (p.Val234Gly)
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp) rs760270633
NM_004408.4(DNM1):c.739G>A (p.Asp247Asn)
NM_004408.4(DNM1):c.854T>A (p.Leu285Gln) rs1131691877
NM_004408.4(DNM1):c.925_927del (p.Lys309del)
NM_004408.4(DNM1):c.929A>G (p.Glu310Gly) rs1835069996
NM_004408.4(DNM1):c.933G>A (p.Val311=)
NM_004408.4(DNM1):c.952C>T (p.Arg318Cys) rs892194903

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