ClinVar Miner

List of variants studied for childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy by Baylor Genetics

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_003042.4(SLC6A1):c.1526C>T (p.Ala509Val) rs769577441 0.00001
NM_004408.4(DNM1):c.2076+4C>T rs374379668 0.00001
NM_004408.4(DNM1):c.386-8C>T rs764950748 0.00001
NM_000814.6(GABRB3):c.154C>G (p.Leu52Val)
NM_000814.6(GABRB3):c.496A>G (p.Arg166Gly) rs1890857965
NM_000814.6(GABRB3):c.679A>C (p.Thr227Pro) rs1890741727
NM_000814.6(GABRB3):c.841A>G (p.Thr281Ala) rs1555401442
NM_000814.6(GABRB3):c.905A>G (p.Tyr302Cys) rs1889966424
NM_001271.4(CHD2):c.1151_1153+4del rs2053431516
NM_001271.4(CHD2):c.1937G>A (p.Gly646Glu) rs1567141162
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln) rs1567149946
NM_001271.4(CHD2):c.3284C>G (p.Ala1095Gly) rs2054031451
NM_001271.4(CHD2):c.3423G>A (p.Lys1141=) rs2054119126
NM_001271.4(CHD2):c.3920G>A (p.Gly1307Glu) rs2054212404
NM_001271.4(CHD2):c.4637G>A (p.Arg1546Gln) rs1430565994
NM_001271.4(CHD2):c.4892A>C (p.His1631Pro) rs2054438338
NM_001271.4(CHD2):c.5443C>A (p.Gln1815Lys)
NM_001271.4(CHD2):c.628G>T (p.Glu210Ter) rs1567133726
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln) rs794726859
NM_003042.4(SLC6A1):c.1711del (p.Val571fs) rs1574929097
NM_004408.4(DNM1):c.395T>G (p.Leu132Arg)
NM_004408.4(DNM1):c.465_467dup (p.Gln155_Ile156insMet) rs1057518655

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