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: 97
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HGVS dbSNP
NM_001242896.3(DEPDC5):c.1218-13_1218-10del rs150103661
NM_001242896.3(DEPDC5):c.3330+5G>C
NM_001242896.3(DEPDC5):c.779A>G (p.Gln260Arg) rs1601925119
NM_001242897.2(DEPDC5):c.1166G>A (p.Arg389His) rs768332862
NM_001242897.2(DEPDC5):c.1182C>T (p.Gly394=) rs1289456216
NM_001242897.2(DEPDC5):c.1223A>G (p.Tyr408Cys) rs1602010347
NM_001242897.2(DEPDC5):c.1261C>G (p.Pro421Ala) rs764297665
NM_001242897.2(DEPDC5):c.1265G>A (p.Arg422Gln) rs886039277
NM_001242897.2(DEPDC5):c.1269A>G (p.Ile423Met) rs778795541
NM_001242897.2(DEPDC5):c.130C>G (p.Pro44Ala) rs756878843
NM_001242897.2(DEPDC5):c.1334G>A (p.Ser445Asn) rs201797550
NM_001242897.2(DEPDC5):c.1355C>T (p.Ala452Val) rs202226316
NM_001242897.2(DEPDC5):c.1385A>G (p.Tyr462Cys) rs747546981
NM_001242897.2(DEPDC5):c.1408C>T (p.Pro470Ser) rs371312649
NM_001242897.2(DEPDC5):c.1412G>A (p.Gly471Asp) rs1351408059
NM_001242897.2(DEPDC5):c.1436C>T (p.Thr479Ile) rs1602054541
NM_001242897.2(DEPDC5):c.1454G>A (p.Arg485Gln) rs886039278
NM_001242897.2(DEPDC5):c.1525C>T (p.Arg509Cys) rs202083639
NM_001242897.2(DEPDC5):c.1526G>A (p.Arg509His) rs372489331
NM_001242897.2(DEPDC5):c.161A>C (p.Gln54Pro) rs201312113
NM_001242897.2(DEPDC5):c.1625A>C (p.Gln542Pro) rs886039279
NM_001242897.2(DEPDC5):c.1640G>A (p.Ser547Asn) rs1483477312
NM_001242897.2(DEPDC5):c.1657A>G (p.Ser553Gly) rs1555885142
NM_001242897.2(DEPDC5):c.1794T>G (p.Ile598Met) rs918653735
NM_001242897.2(DEPDC5):c.1813C>T (p.Arg605Trp) rs1335111412
NM_001242897.2(DEPDC5):c.1814G>A (p.Arg605Gln) rs760696765
NM_001242897.2(DEPDC5):c.2016G>A (p.Pro672=) rs758163770
NM_001242897.2(DEPDC5):c.20A>G (p.Tyr7Cys) rs748813142
NM_001242897.2(DEPDC5):c.2182C>T (p.Arg728Cys) rs953743301
NM_001242897.2(DEPDC5):c.2188A>G (p.Met730Val) rs1555897260
NM_001242897.2(DEPDC5):c.2273A>G (p.Tyr758Cys) rs773004067
NM_001242897.2(DEPDC5):c.2326C>G (p.Leu776Val) rs1602350218
NM_001242897.2(DEPDC5):c.233G>A (p.Arg78Gln) rs373578854
NM_001242897.2(DEPDC5):c.2342C>T (p.Thr781Met) rs200744555
NM_001242897.2(DEPDC5):c.2357C>T (p.Thr786Met) rs564667614
NM_001242897.2(DEPDC5):c.2427C>A (p.His809Gln) rs1555899801
NM_001242897.2(DEPDC5):c.2456C>T (p.Ser819Leu) rs371496533
NM_001242897.2(DEPDC5):c.2589C>G (p.Phe863Leu) rs1555900811
NM_001242897.2(DEPDC5):c.2629G>A (p.Ala877Thr) rs538998618
NM_001242897.2(DEPDC5):c.2650G>T (p.Gly884Trp) rs756338392
NM_001242897.2(DEPDC5):c.2656G>A (p.Ala886Thr) rs780008727
NM_001242897.2(DEPDC5):c.268G>A (p.Val90Ile) rs768456731
NM_001242897.2(DEPDC5):c.2703G>C (p.Glu901Asp) rs1602368020
NM_001242897.2(DEPDC5):c.2755C>T (p.Arg919Cys) rs1555900981
NM_001242897.2(DEPDC5):c.2762G>A (p.Arg921Gln) rs201245740
NM_001242897.2(DEPDC5):c.2777G>A (p.Arg926His) rs754059546
NM_001242897.2(DEPDC5):c.279+3A>G rs1211730596
NM_001242897.2(DEPDC5):c.2858C>A (p.Pro953His) rs376744360
NM_001242897.2(DEPDC5):c.2960A>G (p.Lys987Arg) rs757609394
NM_001242897.2(DEPDC5):c.2978C>T (p.Ala993Val) rs750296306
NM_001242897.2(DEPDC5):c.2983A>C (p.Ser995Arg) rs754608531
NM_001242897.2(DEPDC5):c.2984G>A (p.Ser995Asn) rs375884815
NM_001242897.2(DEPDC5):c.3001A>G (p.Thr1001Ala) rs878854278
NM_001242897.2(DEPDC5):c.3007A>C (p.Thr1003Pro) rs142540948
NM_001242897.2(DEPDC5):c.3022C>T (p.Pro1008Ser) rs914056153
NM_001242897.2(DEPDC5):c.3030+3855C>T rs528786894
NM_001242897.2(DEPDC5):c.3030+3861C>T rs79027628
NM_001242897.2(DEPDC5):c.3137A>G (p.Gln1046Arg) rs1555913525
NM_001242897.2(DEPDC5):c.3161C>T (p.Ser1054Phe) rs578244490
NM_001242897.2(DEPDC5):c.3184A>G (p.Ser1062Gly) rs886039280
NM_001242897.2(DEPDC5):c.332G>A (p.Arg111His) rs878854279
NM_001242897.2(DEPDC5):c.3359G>A (p.Gly1120Glu) rs374871448
NM_001242897.2(DEPDC5):c.3503G>A (p.Arg1168Gln) rs886039281
NM_001242897.2(DEPDC5):c.3533G>T (p.Trp1178Leu) rs1569185783
NM_001242897.2(DEPDC5):c.3552C>A (p.Asp1184Glu) rs773340826
NM_001242897.2(DEPDC5):c.3575A>C (p.Lys1192Thr) rs1602677961
NM_001242897.2(DEPDC5):c.3586G>T (p.Val1196Leu) rs1569186162
NM_001242897.2(DEPDC5):c.363+6A>G rs933571182
NM_001242897.2(DEPDC5):c.3652A>C (p.Ser1218Arg) rs1602678715
NM_001242897.2(DEPDC5):c.376G>A (p.Ala126Thr) rs1008310202
NM_001242897.2(DEPDC5):c.380A>G (p.Tyr127Cys) rs370881336
NM_001242897.2(DEPDC5):c.3824A>G (p.His1275Arg) rs1260083367
NM_001242897.2(DEPDC5):c.3826G>A (p.Gly1276Ser) rs1555929990
NM_001242897.2(DEPDC5):c.3856A>C (p.Ile1286Leu) rs1555930038
NM_001242897.2(DEPDC5):c.3875C>T (p.Ala1292Val) rs1420107846
NM_001242897.2(DEPDC5):c.4007G>A (p.Arg1336His) rs948206788
NM_001242897.2(DEPDC5):c.4009G>T (p.Ala1337Ser) rs1555933951
NM_001242897.2(DEPDC5):c.4054G>A (p.Gly1352Ser) rs1452980660
NM_001242897.2(DEPDC5):c.4220-2A>G rs1555942859
NM_001242897.2(DEPDC5):c.4320C>T (p.Cys1440=) rs756290564
NM_001242897.2(DEPDC5):c.4330del (p.Val1444fs) rs1569255443
NM_001242897.2(DEPDC5):c.4392_4393delinsTTT (p.Asp1465fs) rs1569255986
NM_001242897.2(DEPDC5):c.4427T>G (p.Phe1476Cys) rs1025857773
NM_001242897.2(DEPDC5):c.4447C>T (p.Arg1483Cys) rs759170497
NM_001242897.2(DEPDC5):c.4459C>T (p.Leu1487=) rs1569256444
NM_001242897.2(DEPDC5):c.4479T>A (p.Ser1493Arg) rs750919199
NM_001242897.2(DEPDC5):c.499A>G (p.Thr167Ala) rs374309503
NM_001242897.2(DEPDC5):c.542T>A (p.Met181Lys) rs1060501486
NM_001242897.2(DEPDC5):c.56G>C (p.Ser19Thr) rs886039275
NM_001242897.2(DEPDC5):c.602C>A (p.Ala201Asp) rs1569519698
NM_001242897.2(DEPDC5):c.640C>G (p.His214Asp) rs886039276
NM_001242897.2(DEPDC5):c.694+5G>A rs1060501485
NM_001242897.2(DEPDC5):c.752A>G (p.Tyr251Cys) rs1064796158
NM_001242897.2(DEPDC5):c.763T>C (p.Tyr255His) rs372371916
NM_001242897.2(DEPDC5):c.814G>T (p.Val272Leu) rs187334123
NM_001242897.2(DEPDC5):c.842A>T (p.Tyr281Phe) rs200797928
NM_001242897.2(DEPDC5):c.968A>G (p.Asn323Ser) rs201776005

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