ClinVar Miner

List of variants studied for adolescent-onset epilepsy syndrome by Centogene AG - the Rare Disease Company

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001242896.3(DEPDC5):c.1408C>T (p.Pro470Ser) rs371312649 0.00006
NM_005045.4(RELN):c.401G>C (p.Ser134Thr) rs1399507011 0.00002
NM_001134407.3(GRIN2A):c.3455A>C (p.Gln1152Pro) rs1268024101 0.00001
NM_005076.5(CNTN2):c.1241-1G>C rs1553345874 0.00001
NM_000744.7(CHRNA4):c.919G>A (p.Gly307Ser) rs764586079
NM_000748.3(CHRNB2):c.919C>A (p.Leu307Ile) rs200720061
NM_001112741.2(KCNC1):c.847T>C (p.Phe283Leu) rs940677477
NM_001134407.3(GRIN2A):c.1877C>A (p.Thr626Asn) rs2141312664
NM_001242896.3(DEPDC5):c.3460TCC[1] (p.Ser1155del) rs2092817019
NM_005045.4(RELN):c.8260del (p.Ile2754fs) rs2117061849
NM_005045.4(RELN):c.9444-1G>A rs1828624396
NM_005076.5(CNTN2):c.2193G>C (p.Trp731Cys) rs1553347743
NM_020361.5(CPA6):c.1294C>A (p.Leu432Met) rs569889471

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