ClinVar Miner

List of variants studied for adolescent-onset epilepsy syndrome by Génétique des Maladies du Développement, Hospices Civils de Lyon

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001242896.3(DEPDC5):c.346C>T (p.Arg116Ter) rs1315483224 0.00001
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405 0.00001
NM_000742.4(CHRNA2):c.937C>T (p.Leu313Phe)
NM_001112741.2(KCNC1):c.1294G>C (p.Val432Leu)
NM_001134407.3(GRIN2A):c.1054del (p.Glu352fs) rs2043685576
NM_001134407.3(GRIN2A):c.1123-2A>T
NM_001134407.3(GRIN2A):c.1334C>A (p.Ser445Ter)
NM_001134407.3(GRIN2A):c.1362del (p.Lys454fs)
NM_001134407.3(GRIN2A):c.1373G>A (p.Gly458Glu)
NM_001134407.3(GRIN2A):c.1500G>A (p.Val500=)
NM_001134407.3(GRIN2A):c.1529dup (p.Ser511fs)
NM_001134407.3(GRIN2A):c.1946_1947delinsCT (p.Leu649Pro)
NM_001134407.3(GRIN2A):c.2007+1G>T
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
NM_001134407.3(GRIN2A):c.2169-1G>C rs2141231277
NM_001134407.3(GRIN2A):c.2189A>G (p.Tyr730Cys) rs1903138230
NM_001134407.3(GRIN2A):c.2516A>T (p.His839Leu)
NM_001134407.3(GRIN2A):c.4229C>T (p.Ser1410Leu)
NM_001134407.3(GRIN2A):c.479A>G (p.Lys160Arg)
NM_001134407.3(GRIN2A):c.50_54del (p.Val17fs) rs2050242587
NM_001134407.3(GRIN2A):c.598A>G (p.Met200Val)
NM_001242896.3(DEPDC5):c.1143+2T>C
NM_001242896.3(DEPDC5):c.1264C>T (p.Arg422Ter) rs757511744
NM_001242896.3(DEPDC5):c.1555C>T (p.Gln519Ter) rs886039261
NM_001242896.3(DEPDC5):c.198dup (p.Ile67fs) rs2082694133
NM_001242896.3(DEPDC5):c.2354+2T>A rs2148953712
NM_001242896.3(DEPDC5):c.279+1G>C rs886039246
NM_001242896.3(DEPDC5):c.3330+5G>C
NM_001242896.3(DEPDC5):c.3709del (p.Glu1237fs) rs2092986219
NM_001242896.3(DEPDC5):c.4673G>A (p.Trp1558Ter) rs2149449539
NM_001242896.3(DEPDC5):c.982C>T (p.Arg328Ter) rs587776977
NM_005097.4(LGI1):c.215+2T>A rs2059586444
NM_020822.3(KCNT1):c.2126G>A (p.Ser709Asn)
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His) rs1023136319
NM_020822.3(KCNT1):c.2824C>T (p.Leu942Phe)
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
NM_198586.3(NHLRC1):c.560A>C (p.His187Pro)

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