ClinVar Miner

List of variants studied for childhood-onset epilepsy syndrome by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_001134407.3(GRIN2A):c.4375A>G (p.Ser1459Gly) rs869312681
NM_001161352.2(KCNMA1):c.2846A>G (p.Asn949Ser) rs1565091862
NM_001242896.3(DEPDC5):c.1840A>T (p.Arg614Ter)
NM_001242896.3(DEPDC5):c.4097G>T (p.Arg1366Leu) rs1064795095
NM_001271.4(CHD2):c.1552del (p.Gln518fs) rs869312705
NM_001271.4(CHD2):c.3787dup (p.Val1263fs) rs869312877
NM_003042.4(SLC6A1):c.1352A>G (p.Asp451Gly) rs869312680
NM_004408.4(DNM1):c.139G>A (p.Val47Met) rs869312702

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