ClinVar Miner

List of variants studied for adolescent-onset epilepsy syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (68):
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ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850 0.00928
NM_005045.4(RELN):c.8843+3A>C rs200124755 0.00029
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) rs201044262 0.00016
NM_005045.4(RELN):c.2002+10T>C rs367840492 0.00006
NM_005045.4(RELN):c.5480A>G (p.Asn1827Ser) rs374941914 0.00006
NM_005097.4(LGI1):c.275C>T (p.Ser92Leu) rs772750463 0.00002
NM_000744.7(CHRNA4):c.1184C>T (p.Thr395Met) rs121912269 0.00001
NM_001112741.2(KCNC1):c.1409A>G (p.Asn470Ser) rs143588903 0.00001
NM_001161352.2(KCNMA1):c.378+503T>C rs200150931 0.00001
NM_005045.4(RELN):c.7267C>T (p.Arg2423Cys) rs1165686675 0.00001
NM_015973.5(GAL):c.81+12G>A rs1338973790 0.00001
NM_020822.3(KCNT1):c.111-2A>T rs1382443844 0.00001
NM_020822.3(KCNT1):c.1402-8C>T rs1303785635 0.00001
NM_000742.4(CHRNA2):c.1152del (p.Pro385fs) rs1812569409
NM_000742.4(CHRNA2):c.215G>C (p.Arg72Pro) rs201922955
NM_000742.4(CHRNA2):c.987_990del (p.Glu330fs) rs1812583233
NM_001077350.3(NPRL3):c.1359C>T (p.Ser453=) rs756373989
NM_001112741.2(KCNC1):c.11G>A (p.Gly4Glu) rs1848761561
NM_001112741.2(KCNC1):c.1660T>G (p.Tyr554Asp) rs1167541162
NM_001112741.2(KCNC1):c.486T>A (p.Asp162Glu) rs1436435735
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser) rs757713617
NM_001134407.3(GRIN2A):c.2710A>T (p.Ile904Phe) rs1555482933
NM_001134407.3(GRIN2A):c.3084G>C (p.Gln1028His) rs796052554
NM_001134407.3(GRIN2A):c.3199C>T (p.Arg1067Trp) rs1900770162
NM_001134407.3(GRIN2A):c.3705G>C (p.Lys1235Asn) rs1029138195
NM_001161352.2(KCNMA1):c.1783G>A (p.Glu595Lys) rs2094532399
NM_001161352.2(KCNMA1):c.2408A>T (p.Asp803Val) rs2067187945
NM_001161352.2(KCNMA1):c.3697G>A (p.Glu1233Lys) rs779739159
NM_001161352.2(KCNMA1):c.36CGG[10] (p.Gly18_Gly20dup) rs760628050
NM_001242896.3(DEPDC5):c.1395dup (p.Val466fs) rs2088167973
NM_001242896.3(DEPDC5):c.2500C>G (p.Pro834Ala) rs1569067813
NM_001242896.3(DEPDC5):c.2633+3G>A rs2091504417
NM_001242896.3(DEPDC5):c.3758A>G (p.Tyr1253Cys) rs2092987722
NM_005045.4(RELN):c.10280+7A>G rs764488118
NM_005045.4(RELN):c.3147-9C>G rs1831729606
NM_005045.4(RELN):c.3463dup (p.Leu1155fs) rs1831540987
NM_005045.4(RELN):c.5662G>A (p.Gly1888Arg) rs1830541169
NM_005045.4(RELN):c.6146C>T (p.Ala2049Val) rs374232523
NM_005045.4(RELN):c.8195G>T (p.Cys2732Phe) rs777843062
NM_005670.4(EPM2A):c.499G>C (p.Gly167Arg) rs1776588836
NM_006545.5(NPRL2):c.491dup (p.Asp165fs) rs1703652698
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_020822.3(KCNT1):c.2166_2170del (p.Pro724fs) rs1832854272
NM_020822.3(KCNT1):c.972C>G (p.Ile324Met) rs1831785244
NM_021267.5(CERS1):c.527C>G (p.Ser176Trp) rs555889038

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