ClinVar Miner

List of variants studied for developmental and epileptic encephalopathy, 41 by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004171.4(SLC1A2):c.107G>A (p.Arg36His) rs980878522 0.00001
NM_004171.4(SLC1A2):c.1003A>G (p.Ile335Val)
NM_004171.4(SLC1A2):c.304A>G (p.Ile102Val) rs2134887083
NM_004171.4(SLC1A2):c.389T>C (p.Ile130Thr) rs1851734643

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