ClinVar Miner

List of variants in gene DEPDC5 reported as uncertain significance for Epilepsy, familial focal, with variable foci 1

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Total variants: 120
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HGVS dbSNP
NC_000022.10:g.(?_32297708)_(32302503_?)dup
NC_000022.11:g.(?_31857425)_(31906517_?)dup
NM_001242896.1(DEPDC5):c.1153C>T (p.Arg385Trp) rs200020310
NM_001242896.1(DEPDC5):c.1182C>T (p.Gly394=) rs1289456216
NM_001242896.1(DEPDC5):c.1218-18_1218-15delTGTT rs150103661
NM_001242896.1(DEPDC5):c.1249A>T (p.Asn417Tyr) rs763518514
NM_001242896.1(DEPDC5):c.1291G>A (p.Ala431Thr) rs777844378
NM_001242896.1(DEPDC5):c.130C>G (p.Pro44Ala) rs756878843
NM_001242896.1(DEPDC5):c.1381G>A (p.Ala461Thr) rs771161131
NM_001242896.1(DEPDC5):c.1385A>G (p.Tyr462Cys) rs747546981
NM_001242896.1(DEPDC5):c.1411G>A (p.Gly471Ser) rs756780050
NM_001242896.1(DEPDC5):c.1412G>A (p.Gly471Asp) rs1351408059
NM_001242896.1(DEPDC5):c.1446-8C>A rs188460159
NM_001242896.1(DEPDC5):c.1466G>A (p.Ser489Asn) rs200209747
NM_001242896.1(DEPDC5):c.1525C>T (p.Arg509Cys) rs202083639
NM_001242896.1(DEPDC5):c.1594A>G (p.Ile532Val) rs764496748
NM_001242896.1(DEPDC5):c.1657A>G (p.Ser553Gly) rs1555885142
NM_001242896.1(DEPDC5):c.1813C>T (p.Arg605Trp) rs1335111412
NM_001242896.1(DEPDC5):c.1814G>A (p.Arg605Gln) rs760696765
NM_001242896.1(DEPDC5):c.2006+3G>A rs752184633
NM_001242896.1(DEPDC5):c.20A>G (p.Tyr7Cys) rs748813142
NM_001242896.1(DEPDC5):c.2250G>A (p.Pro750=) rs758163770
NM_001242896.1(DEPDC5):c.2288G>A (p.Arg763His) rs542384516
NM_001242896.1(DEPDC5):c.233G>A (p.Arg78Gln) rs373578854
NM_001242896.1(DEPDC5):c.233G>C (p.Arg78Pro) rs373578854
NM_001242896.1(DEPDC5):c.2341G>C (p.Ala781Pro) rs761280493
NM_001242896.1(DEPDC5):c.2416C>T (p.Arg806Cys) rs953743301
NM_001242896.1(DEPDC5):c.2422A>G (p.Met808Val) rs1555897260
NM_001242896.1(DEPDC5):c.2465C>G (p.Pro822Arg) rs746372266
NM_001242896.1(DEPDC5):c.2486C>T (p.Pro829Leu) rs370487077
NM_001242896.1(DEPDC5):c.2507A>G (p.Tyr836Cys) rs773004067
NM_001242896.1(DEPDC5):c.2576C>T (p.Thr859Met) rs200744555
NM_001242896.1(DEPDC5):c.2661C>A (p.His887Gln) rs1555899801
NM_001242896.1(DEPDC5):c.2672G>C (p.Ser891Thr) rs185576553
NM_001242896.1(DEPDC5):c.2704G>A (p.Val902Ile) rs374944205
NM_001242896.1(DEPDC5):c.2735G>A (p.Arg912Gln) rs781159677
NM_001242896.1(DEPDC5):c.2823C>G (p.Phe941Leu) rs1555900811
NM_001242896.1(DEPDC5):c.2890G>A (p.Ala964Thr) rs780008727
NM_001242896.1(DEPDC5):c.28G>A (p.Val10Ile) rs375027042
NM_001242896.1(DEPDC5):c.2989C>T (p.Arg997Cys) rs1555900981
NM_001242896.1(DEPDC5):c.2995C>T (p.Arg999Trp) rs375050296
NM_001242896.1(DEPDC5):c.2996G>A (p.Arg999Gln) rs201245740
NM_001242896.1(DEPDC5):c.3216G>C (p.Glu1072Asp) rs753608617
NM_001242896.1(DEPDC5):c.3272C>T (p.Ala1091Val) rs772812141
NM_001242896.1(DEPDC5):c.3305C>T (p.Thr1102Ile) rs528786894
NM_001242896.1(DEPDC5):c.3311C>T (p.Ser1104Leu) rs79027628
NM_001242896.1(DEPDC5):c.3437A>G (p.Gln1146Arg) rs1555913525
NM_001242896.1(DEPDC5):c.3515C>A (p.Thr1172Asn) rs865860087
NM_001242896.1(DEPDC5):c.363+6_363+7del rs748242785
NM_001242896.1(DEPDC5):c.376G>A (p.Ala126Thr) rs1008310202
NM_001242896.1(DEPDC5):c.380A>G (p.Tyr127Cys) rs370881336
NM_001242896.1(DEPDC5):c.4124A>G (p.His1375Arg) rs1260083367
NM_001242896.1(DEPDC5):c.4126G>A (p.Gly1376Ser) rs1555929990
NM_001242896.1(DEPDC5):c.4136C>A (p.Ser1379Tyr) rs765244692
NM_001242896.1(DEPDC5):c.4156A>C (p.Ile1386Leu) rs1555930038
NM_001242896.1(DEPDC5):c.4520-2A>G rs1555942859
NM_001242896.1(DEPDC5):c.4571A>G (p.Gln1524Arg) rs377585542
NM_001242896.1(DEPDC5):c.4733A>G (p.Asp1578Gly) rs201347461
NM_001242896.1(DEPDC5):c.4779T>A (p.Ser1593Arg) rs750919199
NM_001242896.1(DEPDC5):c.499A>G (p.Thr167Ala) rs374309503
NM_001242896.1(DEPDC5):c.542T>A (p.Met181Lys) rs1060501486
NM_001242896.1(DEPDC5):c.5G>A (p.Arg2Lys) rs756142773
NM_001242896.1(DEPDC5):c.694+3_694+6del rs1351154360
NM_001242896.1(DEPDC5):c.694+5G>A rs1060501485
NM_001242896.1(DEPDC5):c.752A>G (p.Tyr251Cys) rs1064796158
NM_001242896.1(DEPDC5):c.968A>G (p.Asn323Ser) rs201776005
NM_001242896.2(DEPDC5):c.1166G>A (p.Arg389His)
NM_001242896.2(DEPDC5):c.1261C>G (p.Pro421Ala)
NM_001242896.2(DEPDC5):c.1265G>A (p.Arg422Gln) rs886039277
NM_001242896.2(DEPDC5):c.1269A>G (p.Ile423Met)
NM_001242896.2(DEPDC5):c.1334G>A (p.Ser445Asn)
NM_001242896.2(DEPDC5):c.1354G>A (p.Ala452Thr)
NM_001242896.2(DEPDC5):c.1355C>T (p.Ala452Val) rs202226316
NM_001242896.2(DEPDC5):c.1408C>T (p.Pro470Ser)
NM_001242896.2(DEPDC5):c.1454G>A (p.Arg485Gln) rs886039278
NM_001242896.2(DEPDC5):c.1526G>A (p.Arg509His)
NM_001242896.2(DEPDC5):c.161A>C (p.Gln54Pro) rs201312113
NM_001242896.2(DEPDC5):c.1625A>C (p.Gln542Pro) rs886039279
NM_001242896.2(DEPDC5):c.1729G>A (p.Val577Ile)
NM_001242896.2(DEPDC5):c.1794T>G (p.Ile598Met)
NM_001242896.2(DEPDC5):c.1945A>G (p.Arg649Gly)
NM_001242896.2(DEPDC5):c.2010C>A (p.His670Gln)
NM_001242896.2(DEPDC5):c.2177C>T (p.Thr726Ile)
NM_001242896.2(DEPDC5):c.2350G>A (p.Asp784Asn) rs776885208
NM_001242896.2(DEPDC5):c.2591C>T (p.Thr864Met) rs564667614
NM_001242896.2(DEPDC5):c.268G>A (p.Val90Ile) rs768456731
NM_001242896.2(DEPDC5):c.279+3A>G
NM_001242896.2(DEPDC5):c.2863G>A (p.Ala955Thr)
NM_001242896.2(DEPDC5):c.2884G>T (p.Gly962Trp)
NM_001242896.2(DEPDC5):c.3014T>A (p.Met1005Lys)
NM_001242896.2(DEPDC5):c.3021G>T (p.Arg1007=)
NM_001242896.2(DEPDC5):c.3092C>A (p.Pro1031His) rs376744360
NM_001242896.2(DEPDC5):c.3217A>C (p.Ser1073Arg) rs754608531
NM_001242896.2(DEPDC5):c.3235A>G (p.Thr1079Ala) rs878854278
NM_001242896.2(DEPDC5):c.3241A>C (p.Thr1081Pro) rs142540948
NM_001242896.2(DEPDC5):c.3247A>C (p.Met1083Leu)
NM_001242896.2(DEPDC5):c.332G>A (p.Arg111His) rs878854279
NM_001242896.2(DEPDC5):c.3461C>T (p.Ser1154Phe) rs578244490
NM_001242896.2(DEPDC5):c.3484A>G (p.Ser1162Gly) rs886039280
NM_001242896.2(DEPDC5):c.3659G>A (p.Gly1220Glu)
NM_001242896.2(DEPDC5):c.3803G>A (p.Arg1268Gln) rs886039281
NM_001242896.2(DEPDC5):c.3833G>T (p.Trp1278Leu)
NM_001242896.2(DEPDC5):c.3852C>A (p.Asp1284Glu)
NM_001242896.2(DEPDC5):c.3859G>T (p.Ala1287Ser)
NM_001242896.2(DEPDC5):c.3886G>T (p.Val1296Leu)
NM_001242896.2(DEPDC5):c.4183G>A (p.Ala1395Thr)
NM_001242896.2(DEPDC5):c.4307G>A (p.Arg1436His)
NM_001242896.2(DEPDC5):c.4309G>T (p.Ala1437Ser) rs1555933951
NM_001242896.2(DEPDC5):c.4354G>A (p.Gly1452Ser)
NM_001242896.2(DEPDC5):c.4391C>T (p.Thr1464Met)
NM_001242896.2(DEPDC5):c.4620C>T (p.Cys1540=)
NM_001242896.2(DEPDC5):c.4630del (p.Val1544Serfs)
NM_001242896.2(DEPDC5):c.4692_4693delGGinsTTT (p.Asp1565Leufs)
NM_001242896.2(DEPDC5):c.56G>C (p.Ser19Thr) rs886039275
NM_001242896.2(DEPDC5):c.602C>A (p.Ala201Asp)
NM_001242896.2(DEPDC5):c.640C>G (p.His214Asp) rs886039276
NM_001242896.2(DEPDC5):c.763T>C (p.Tyr255His)
NM_001242896.2(DEPDC5):c.791G>A (p.Arg264Lys)
NM_001242896.2(DEPDC5):c.814G>T (p.Val272Leu) rs187334123
NM_001242896.2(DEPDC5):c.842A>T (p.Tyr281Phe) rs200797928

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