ClinVar Miner

List of variants studied for developmental and epileptic encephalopathy, 53 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_203446.3(SYNJ1):c.803G>A (p.Arg268His) rs201796096 0.00002
NM_203446.3(SYNJ1):c.2505C>A (p.Ser835Arg) rs748032685 0.00001
NM_203446.3(SYNJ1):c.1625T>G (p.Val542Gly) rs2041281036

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