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: 73
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HGVS dbSNP gnomAD frequency
NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys) rs202083639 0.00049
NM_001242896.3(DEPDC5):c.968A>G (p.Asn323Ser) rs201776005 0.00023
NM_001242896.3(DEPDC5):c.161A>C (p.Gln54Pro) rs201312113 0.00019
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu) rs79027628 0.00016
NM_001242896.3(DEPDC5):c.791G>A (p.Arg264Lys) rs750467533 0.00008
NM_001242896.3(DEPDC5):c.2576C>T (p.Thr859Met) rs200744555 0.00007
NM_001242896.3(DEPDC5):c.1408C>T (p.Pro470Ser) rs371312649 0.00006
NM_001242896.3(DEPDC5):c.3217A>C (p.Ser1073Arg) rs754608531 0.00005
NM_001242896.3(DEPDC5):c.1354G>A (p.Ala452Thr) rs768264302 0.00004
NM_001242896.3(DEPDC5):c.2045T>A (p.Phe682Tyr) rs373078069 0.00004
NM_001242896.3(DEPDC5):c.2377A>G (p.Met793Val) rs370318709 0.00004
NM_001242896.3(DEPDC5):c.338A>T (p.Asp113Val) rs529069517 0.00004
NM_001242896.3(DEPDC5):c.4580G>A (p.Arg1527Gln) rs200552561 0.00003
NM_001242896.3(DEPDC5):c.500C>T (p.Thr167Met) rs575683658 0.00003
NM_001242896.3(DEPDC5):c.1960T>C (p.Ser654Pro) rs774477005 0.00002
NM_001242896.3(DEPDC5):c.3002G>A (p.Arg1001His) rs1473617562 0.00002
NM_001242896.3(DEPDC5):c.3836A>G (p.His1279Arg) rs201765981 0.00002
NM_001242896.3(DEPDC5):c.572A>G (p.Tyr191Cys) rs749809456 0.00002
NM_001242896.3(DEPDC5):c.95A>G (p.His32Arg) rs760541660 0.00002
NM_001242896.3(DEPDC5):c.1385A>G (p.Tyr462Cys) rs747546981 0.00001
NM_001242896.3(DEPDC5):c.1460G>A (p.Arg487Gln) rs775080915 0.00001
NM_001242896.3(DEPDC5):c.2507A>G (p.Tyr836Cys) rs773004067 0.00001
NM_001242896.3(DEPDC5):c.2533C>T (p.Arg845Cys) rs780652126 0.00001
NM_001242896.3(DEPDC5):c.279+3A>G rs1211730596 0.00001
NM_001242896.3(DEPDC5):c.3202G>A (p.Ala1068Thr) rs763158282 0.00001
NM_001242896.3(DEPDC5):c.3293G>A (p.Arg1098His) rs1185705971 0.00001
NM_001242896.3(DEPDC5):c.3515C>A (p.Thr1172Asn) rs865860087 0.00001
NM_001242896.3(DEPDC5):c.373T>C (p.Cys125Arg) rs778986487 0.00001
NM_001242896.3(DEPDC5):c.4097G>A (p.Arg1366Gln) rs1064795095 0.00001
NM_001242896.3(DEPDC5):c.4808C>T (p.Pro1603Leu) rs755174447 0.00001
NM_001242896.3(DEPDC5):c.722C>T (p.Ser241Leu) rs1397187284 0.00001
NM_001242896.3(DEPDC5):c.1081+4A>G rs757563918
NM_001242896.3(DEPDC5):c.113T>C (p.Ile38Thr)
NM_001242896.3(DEPDC5):c.1274T>C (p.Leu425Pro) rs2148665735
NM_001242896.3(DEPDC5):c.1390G>A (p.Ala464Thr)
NM_001242896.3(DEPDC5):c.1640G>C (p.Ser547Thr) rs1483477312
NM_001242896.3(DEPDC5):c.1828C>A (p.Leu610Ile) rs2089444709
NM_001242896.3(DEPDC5):c.1891del (p.Gln631fs)
NM_001242896.3(DEPDC5):c.2105G>A (p.Gly702Asp)
NM_001242896.3(DEPDC5):c.2242A>G (p.Thr748Ala)
NM_001242896.3(DEPDC5):c.2500C>G (p.Pro834Ala) rs1569067813
NM_001242896.3(DEPDC5):c.2500C>T (p.Pro834Ser) rs1370595536
NM_001242896.3(DEPDC5):c.2633+3G>A rs2091504417
NM_001242896.3(DEPDC5):c.2633+9T>G rs2091505022
NM_001242896.3(DEPDC5):c.2666C>T (p.Thr889Ile) rs2149008846
NM_001242896.3(DEPDC5):c.2725T>G (p.Ser909Ala)
NM_001242896.3(DEPDC5):c.2734C>T (p.Arg912Trp) rs528863179
NM_001242896.3(DEPDC5):c.2773A>G (p.Ile925Val)
NM_001242896.3(DEPDC5):c.2783C>T (p.Ala928Val) rs1250427988
NM_001242896.3(DEPDC5):c.2958del (p.Phe986fs)
NM_001242896.3(DEPDC5):c.3169CAG[1] (p.Gln1058del) rs2149117083
NM_001242896.3(DEPDC5):c.3216G>C (p.Glu1072Asp) rs753608617
NM_001242896.3(DEPDC5):c.3218G>A (p.Ser1073Asn) rs375884815
NM_001242896.3(DEPDC5):c.3292C>T (p.Arg1098Cys) rs777509933
NM_001242896.3(DEPDC5):c.3305C>T (p.Thr1102Ile) rs528786894
NM_001242896.3(DEPDC5):c.3330+5G>C
NM_001242896.3(DEPDC5):c.3479A>T (p.Asp1160Val) rs1419496771
NM_001242896.3(DEPDC5):c.3612C>G (p.Cys1204Trp) rs2092932762
NM_001242896.3(DEPDC5):c.3758A>G (p.Tyr1253Cys) rs2092987722
NM_001242896.3(DEPDC5):c.3875A>C (p.Lys1292Thr) rs1602677961
NM_001242896.3(DEPDC5):c.3887T>C (p.Val1296Ala)
NM_001242896.3(DEPDC5):c.4097G>T (p.Arg1366Leu) rs1064795095
NM_001242896.3(DEPDC5):c.4156A>C (p.Ile1386Leu) rs1555930038
NM_001242896.3(DEPDC5):c.4309G>T (p.Ala1437Ser) rs1555933951
NM_001242896.3(DEPDC5):c.4627C>T (p.Arg1543Trp) rs780294726
NM_001242896.3(DEPDC5):c.4633G>A (p.Gly1545Ser) rs1229311796
NM_001242896.3(DEPDC5):c.4790A>G (p.Lys1597Arg)
NM_001242896.3(DEPDC5):c.530T>G (p.Met177Arg) rs2084718245
NM_001242896.3(DEPDC5):c.704C>G (p.Pro235Arg)
NM_001242896.3(DEPDC5):c.779A>G (p.Gln260Arg) rs1601925119
NM_001242896.3(DEPDC5):c.836T>A (p.Ile279Asn) rs2086399384
NM_001242896.3(DEPDC5):c.872-3C>T rs2086521058
NM_001242896.3(DEPDC5):c.880C>T (p.Pro294Ser) rs2086522074

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