ClinVar Miner

List of variants reported as uncertain significance for adolescent-onset epilepsy syndrome by GeneReviews

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_001242896.1(DEPDC5):c.1218-18_1218-15delTGTT rs150103661
NM_001242897.2(DEPDC5):c.1265G>A (p.Arg422Gln) rs886039277
NM_001242897.2(DEPDC5):c.1355C>T (p.Ala452Val) rs202226316
NM_001242897.2(DEPDC5):c.1454G>A (p.Arg485Gln) rs886039278
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.2357C>T (p.Thr786Met) rs564667614
NM_001242897.2(DEPDC5):c.268G>A (p.Val90Ile) rs768456731
NM_001242897.2(DEPDC5):c.2858C>A (p.Pro953His) rs376744360
NM_001242897.2(DEPDC5):c.2983A>C (p.Ser995Arg) rs754608531
NM_001242897.2(DEPDC5):c.3007A>C (p.Thr1003Pro) rs142540948
NM_001242897.2(DEPDC5):c.3030+3861C>T rs79027628
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.3503G>A (p.Arg1168Gln) rs886039281
NM_001242897.2(DEPDC5):c.56G>C (p.Ser19Thr) rs886039275
NM_001242897.2(DEPDC5):c.640C>G (p.His214Asp) rs886039276
NM_001242897.2(DEPDC5):c.814G>T (p.Val272Leu) rs187334123
NM_001242897.2(DEPDC5):c.842A>T (p.Tyr281Phe) rs200797928
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) rs187930476

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