ClinVar Miner

List of variants studied for developmental and epileptic encephalopathy, 46 by Mendelics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000836.4(GRIN2D):c.1605G>T (p.Met535Ile) rs1390364278
NM_000836.4(GRIN2D):c.1997C>T (p.Ala666Val) rs2147455888
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile) rs886040861

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