ClinVar Miner

List of variants reported as uncertain significance for Developmental and epileptic encephalopathy, 31A

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 263
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HGVS dbSNP gnomAD frequency
NM_004408.4(DNM1):c.796C>T (p.Arg266Cys) rs138053929 0.00006
NM_004408.4(DNM1):c.812G>A (p.Arg271His) rs201656136 0.00003
NM_004408.4(DNM1):c.293G>A (p.Arg98His) rs748195071 0.00002
NM_004408.4(DNM1):c.774C>G (p.Phe258Leu) rs146211149 0.00002
NM_004408.4(DNM1):c.103G>T (p.Ala35Ser) rs1404767209 0.00001
NM_004408.4(DNM1):c.1199C>T (p.Thr400Met) rs750618124 0.00001
NM_004408.4(DNM1):c.1268C>T (p.Pro423Leu) rs1373361613 0.00001
NM_004408.4(DNM1):c.1399C>T (p.Arg467Cys) rs769485700 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.1891G>C (p.Gly631Arg) rs1333859821 0.00001
NM_004408.4(DNM1):c.2076+4C>T rs374379668 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.2423C>T (p.Ala808Val) rs1474835177 0.00001
NM_004408.4(DNM1):c.2435C>A (p.Ala812Glu) rs1353174747 0.00001
NM_004408.4(DNM1):c.2455C>T (p.Pro819Ser) rs1131692001 0.00001
NM_004408.4(DNM1):c.2527G>A (p.Val843Ile) rs1006999214 0.00001
NM_004408.4(DNM1):c.267G>T (p.Lys89Asn) rs1229779896 0.00001
NM_004408.4(DNM1):c.292C>G (p.Arg98Gly) rs1206732749 0.00001
NM_004408.4(DNM1):c.358A>G (p.Ile120Val) rs1057520197 0.00001
NM_004408.4(DNM1):c.384C>T (p.His128=) rs535527521 0.00001
NM_004408.4(DNM1):c.386-8C>T rs764950748 0.00001
NM_004408.4(DNM1):c.584C>T (p.Pro195Leu) rs780514615 0.00001
NM_004408.4(DNM1):c.595C>T (p.Arg199Cys) rs1485891906 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.775T>C (p.Phe259Leu) rs1431736054 0.00001
NM_004408.4(DNM1):c.827A>G (p.Tyr276Cys) rs752917058 0.00001
NM_004408.4(DNM1):c.890G>A (p.Arg297Gln) rs1321080189 0.00001
NM_004408.4(DNM1):c.946A>G (p.Asn316Asp) rs1214581005 0.00001
NC_000009.11:g.(?_129376729)_(131016993_?)del
NC_000009.11:g.(?_130928476)_(131004634_?)dup
NC_000009.11:g.(?_130965750)_(131016993_?)dup
NC_000009.11:g.(?_131016913)_(131016993_?)del
NC_000009.12:g.(?_128203451)_(128203651_?)dup
NC_000009.12:g.(?_128234001)_(128234127_?)del
NC_000009.12:g.(?_128242212)_(128247506_?)del
NM_001378120.1(MBD5):c.3981T>G (p.Asp1327Glu)
NM_004408.4(DNM1):c.1012G>A (p.Val338Ile)
NM_004408.4(DNM1):c.1021G>A (p.Glu341Lys)
NM_004408.4(DNM1):c.1054G>A (p.Asp352Asn) rs148695604
NM_004408.4(DNM1):c.1061A>G (p.Tyr354Cys)
NM_004408.4(DNM1):c.1091G>A (p.Arg364Gln)
NM_004408.4(DNM1):c.1100A>C (p.His367Pro)
NM_004408.4(DNM1):c.1116C>G (p.Phe372Leu) rs367584321
NM_004408.4(DNM1):c.112G>A (p.Gly38Ser) rs1131692025
NM_004408.4(DNM1):c.1138G>T (p.Asp380Tyr) rs1835101754
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.1196+5G>A rs1835103921
NM_004408.4(DNM1):c.1196+6T>A
NM_004408.4(DNM1):c.1197-10G>A
NM_004408.4(DNM1):c.1197-7C>A rs41306488
NM_004408.4(DNM1):c.119A>C (p.Gln40Pro) rs2131061484
NM_004408.4(DNM1):c.11G>A (p.Arg4His)
NM_004408.4(DNM1):c.1207T>C (p.Phe403Leu)
NM_004408.4(DNM1):c.1246C>G (p.Gln416Glu) rs866836375
NM_004408.4(DNM1):c.1276A>G (p.Lys426Glu)
NM_004408.4(DNM1):c.1283T>G (p.Val428Gly)
NM_004408.4(DNM1):c.1307T>G (p.Ile436Ser)
NM_004408.4(DNM1):c.1335+1735A>G
NM_004408.4(DNM1):c.1336-7T>G rs550764968
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.1384A>G (p.Thr462Ala)
NM_004408.4(DNM1):c.13G>A (p.Gly5Ser) rs759483040
NM_004408.4(DNM1):c.1404G>C (p.Glu468Asp)
NM_004408.4(DNM1):c.1422+5del
NM_004408.4(DNM1):c.1424T>C (p.Val475Ala)
NM_004408.4(DNM1):c.1443C>G (p.Ile481Met)
NM_004408.4(DNM1):c.1457T>C (p.Met486Thr)
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.1518G>T (p.Met506Ile)
NM_004408.4(DNM1):c.1523AGA[2] (p.Lys510del) rs763633863
NM_004408.4(DNM1):c.152T>C (p.Phe51Ser) rs2131061694
NM_004408.4(DNM1):c.1535C>T (p.Ser512Leu) rs867314420
NM_004408.4(DNM1):c.1545G>A (p.Gln515=)
NM_004408.4(DNM1):c.1557G>C (p.Leu519=)
NM_004408.4(DNM1):c.1565G>C (p.Arg522Pro)
NM_004408.4(DNM1):c.1571G>T (p.Gly524Val)
NM_004408.4(DNM1):c.161+5_161+6delinsTT
NM_004408.4(DNM1):c.161+9_161+10delinsTT
NM_004408.4(DNM1):c.162-11A>G
NM_004408.4(DNM1):c.1631T>C (p.Val544Ala)
NM_004408.4(DNM1):c.1646A>G (p.Asn549Ser) rs2131262599
NM_004408.4(DNM1):c.1652C>T (p.Ser551Phe)
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.1718G>A (p.Arg573Gln)
NM_004408.4(DNM1):c.1721A>G (p.Asp574Gly)
NM_004408.4(DNM1):c.1723G>A (p.Val575Met) rs748647924
NM_004408.4(DNM1):c.176G>A (p.Arg59Gln)
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.1782-3C>T
NM_004408.4(DNM1):c.1786G>A (p.Val596Ile) rs1588449769
NM_004408.4(DNM1):c.1810G>A (p.Glu604Lys) rs1588449811
NM_004408.4(DNM1):c.1867G>T (p.Ala623Ser)
NM_004408.4(DNM1):c.1872C>T (p.Gly624=) rs1367619284
NM_004408.4(DNM1):c.1873G>A (p.Val625Met)
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.1905A>G (p.Lys635=)
NM_004408.4(DNM1):c.1906-3C>T
NM_004408.4(DNM1):c.1912G>A (p.Glu638Lys)
NM_004408.4(DNM1):c.1918G>C (p.Glu640Gln)
NM_004408.4(DNM1):c.1918GAG[1] (p.Glu641del) rs748362979
NM_004408.4(DNM1):c.1928G>A (p.Gly643Asp) rs763245663
NM_004408.4(DNM1):c.1939T>C (p.Phe647Leu)
NM_004408.4(DNM1):c.194C>T (p.Thr65Ile) rs2131148741
NM_004408.4(DNM1):c.1987C>T (p.Arg663Trp)
NM_004408.4(DNM1):c.2015T>C (p.Ile672Thr)
NM_004408.4(DNM1):c.2028C>G (p.Thr676=) rs1339784958
NM_004408.4(DNM1):c.2029G>C (p.Val677Leu)
NM_004408.4(DNM1):c.2034_2051del (p.Arg678_Thr684delinsSer)
NM_004408.4(DNM1):c.2043G>A (p.Met681Ile)
NM_004408.4(DNM1):c.2057T>C (p.Met686Thr)
NM_004408.4(DNM1):c.2065A>G (p.Met689Val)
NM_004408.4(DNM1):c.2076+5G>A rs1829321597
NM_004408.4(DNM1):c.208G>A (p.Val70Ile)
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>T (p.Ala719Val) rs1432815882
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>T (p.Arg724Trp)
NM_004408.4(DNM1):c.2171G>A (p.Arg724Gln) rs1829428293
NM_004408.4(DNM1):c.2198A>G (p.His733Arg)
NM_004408.4(DNM1):c.2240C>A (p.Thr747Lys) rs1829432262
NM_004408.4(DNM1):c.2240C>T (p.Thr747Met)
NM_004408.4(DNM1):c.224A>T (p.Asn75Ile)
NM_004408.4(DNM1):c.2251A>C (p.Ser751Arg)
NM_004408.4(DNM1):c.2253C>G (p.Ser751Arg) rs754280238
NM_004408.4(DNM1):c.2255C>T (p.Thr752Met)
NM_004408.4(DNM1):c.2261T>C (p.Met754Thr)
NM_004408.4(DNM1):c.2306C>G (p.Pro769Arg)
NM_004408.4(DNM1):c.2318+3dup
NM_004408.4(DNM1):c.2327C>A (p.Thr776Lys) rs1490577876
NM_004408.4(DNM1):c.233C>A (p.Thr78Lys)
NM_004408.4(DNM1):c.2350C>G (p.Arg784Gly)
NM_004408.4(DNM1):c.2351G>A (p.Arg784Gln)
NM_004408.4(DNM1):c.2354C>T (p.Ala785Val)
NM_004408.4(DNM1):c.2356C>A (p.Pro786Thr) rs2131299453
NM_004408.4(DNM1):c.2359G>A (p.Ala787Thr) rs1286706539
NM_004408.4(DNM1):c.2375_2393del (p.Arg792fs)
NM_004408.4(DNM1):c.2389G>A (p.Gly797Ser) rs1259228242
NM_004408.4(DNM1):c.2390G>T (p.Gly797Val) rs1486970211
NM_004408.4(DNM1):c.2395G>A (p.Ala799Thr)
NM_004408.4(DNM1):c.2401G>A (p.Gly801Arg)
NM_004408.4(DNM1):c.2405C>T (p.Pro802Leu) rs1829472592
NM_004408.4(DNM1):c.2434G>A (p.Ala812Thr)
NM_004408.4(DNM1):c.2455C>A (p.Pro819Thr)
NM_004408.4(DNM1):c.2469T>G (p.Pro823=)
NM_004408.4(DNM1):c.2474C>T (p.Pro825Leu) rs1295591580
NM_004408.4(DNM1):c.2483C>T (p.Pro828Leu) rs901408697
NM_004408.4(DNM1):c.2486C>T (p.Pro829Leu)
NM_004408.4(DNM1):c.2501C>T (p.Ser834Leu)
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.2534+1dup
NM_004408.4(DNM1):c.2534G>A (p.Ser845Asn) rs1829479381
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.2542G>A (p.Gly848Ser)
NM_004408.4(DNM1):c.2542_2559dup (p.Gly848_Ser853dup) rs1564358652
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>T (p.Pro861Leu) rs187315526
NM_004408.4(DNM1):c.2584T>G (p.Phe862Val) rs2131314418
NM_004408.4(DNM1):c.265A>G (p.Lys89Glu)
NM_004408.4(DNM1):c.284A>G (p.Glu95Gly) rs1316212573
NM_004408.4(DNM1):c.285G>C (p.Glu95Asp)
NM_004408.4(DNM1):c.292C>T (p.Arg98Cys)
NM_004408.4(DNM1):c.2T>C (p.Met1Thr)
NM_004408.4(DNM1):c.320G>A (p.Arg107Lys)
NM_004408.4(DNM1):c.33_34delinsAA (p.Leu12Met)
NM_004408.4(DNM1):c.350C>T (p.Pro117Leu) rs776104715
NM_004408.4(DNM1):c.352G>A (p.Val118Met) rs1834758362
NM_004408.4(DNM1):c.359_361dup (p.Ile120_Asn121insIle)
NM_004408.4(DNM1):c.368G>A (p.Arg123His)
NM_004408.4(DNM1):c.383A>G (p.His128Arg) rs368475266
NM_004408.4(DNM1):c.38T>C (p.Val13Ala) rs969698049
NM_004408.4(DNM1):c.395T>G (p.Leu132Arg)
NM_004408.4(DNM1):c.402G>A (p.Leu134=) rs777767122
NM_004408.4(DNM1):c.406G>A (p.Asp136Asn)
NM_004408.4(DNM1):c.415G>A (p.Gly139Arg) rs1564328617
NM_004408.4(DNM1):c.416G>C (p.Gly139Ala)
NM_004408.4(DNM1):c.427G>C (p.Val143Leu) rs1834788549
NM_004408.4(DNM1):c.428T>A (p.Val143Asp)
NM_004408.4(DNM1):c.43C>G (p.Arg15Gly) rs1320569379
NM_004408.4(DNM1):c.457G>A (p.Glu153Lys) rs1554772974
NM_004408.4(DNM1):c.470G>A (p.Arg157Gln) rs2131152872
NM_004408.4(DNM1):c.535T>A (p.Ser179Thr)
NM_004408.4(DNM1):c.557C>T (p.Ala186Val)
NM_004408.4(DNM1):c.560T>C (p.Leu187Pro)
NM_004408.4(DNM1):c.578T>C (p.Val193Ala)
NM_004408.4(DNM1):c.582C>A (p.Asp194Glu)
NM_004408.4(DNM1):c.583C>A (p.Pro195Thr)
NM_004408.4(DNM1):c.588G>A (p.Gln196=) rs1834794265
NM_004408.4(DNM1):c.589+4G>A
NM_004408.4(DNM1):c.589+4G>T rs751407306
NM_004408.4(DNM1):c.589G>C (p.Gly197Arg)
NM_004408.4(DNM1):c.603C>G (p.Ile201Met)
NM_004408.4(DNM1):c.604G>T (p.Gly202Trp)
NM_004408.4(DNM1):c.643_646delinsA (p.Asp215_Ala216delinsThr) rs1588355906
NM_004408.4(DNM1):c.646G>A (p.Ala216Thr)
NM_004408.4(DNM1):c.654T>G (p.Asp218Glu)
NM_004408.4(DNM1):c.676C>T (p.Pro226Ser)
NM_004408.4(DNM1):c.67A>G (p.Ile23Val)
NM_004408.4(DNM1):c.680T>G (p.Leu227Arg)
NM_004408.4(DNM1):c.682C>T (p.Arg228Cys) rs1444380018
NM_004408.4(DNM1):c.685A>G (p.Arg229Gly) rs1834851998
NM_004408.4(DNM1):c.688+3A>G
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.70G>A (p.Gly24Ser)
NM_004408.4(DNM1):c.718_720del (p.Lys240del)
NM_004408.4(DNM1):c.745A>G (p.Thr249Ala)
NM_004408.4(DNM1):c.767G>A (p.Arg256Gln)
NM_004408.4(DNM1):c.774C>A (p.Phe258Leu)
NM_004408.4(DNM1):c.786T>A (p.His262Gln) rs1376656660
NM_004408.4(DNM1):c.796C>A (p.Arg266Ser) rs138053929
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.845A>G (p.Asn282Ser)
NM_004408.4(DNM1):c.849G>A (p.Gln283=)
NM_004408.4(DNM1):c.889C>T (p.Arg297Trp)
NM_004408.4(DNM1):c.905G>A (p.Ser302Asn) rs1564332436
NM_004408.4(DNM1):c.929A>G (p.Glu310Gly) rs1835069996
NM_004408.4(DNM1):c.944A>G (p.Lys315Arg) rs1564332523
NM_004408.4(DNM1):c.952C>T (p.Arg318Cys) rs892194903
NM_004408.4(DNM1):c.956C>T (p.Pro319Leu)
NM_004408.4(DNM1):c.958G>C (p.Asp320His) rs1588368840
NM_004408.4(DNM1):c.959A>G (p.Asp320Gly)
NM_004408.4(DNM1):c.95C>T (p.Pro32Leu) rs1833619327
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+3G>A
NM_004408.4(DNM1):c.993-13_993-11del
NM_004408.4(DNM1):c.996G>A (p.Met332Ile)

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