ClinVar Miner

List of variants studied for developmental and epileptic encephalopathy 6B by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001165963.4(SCN1A):c.4044G>C (p.Met1348Ile) rs794726822
NM_001165963.4(SCN1A):c.4390G>C (p.Val1464Leu)
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984

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