ClinVar Miner

List of variants studied for developmental and epileptic encephalopathy by Daryl Scott Lab, Baylor College of Medicine

Included ClinVar conditions (219):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004341.5(CAD):c.2492G>A (p.Arg831His) rs779903352 0.00001
NM_000834.5(GRIN2B):c.3388C>T (p.Arg1130Trp) rs1320154351
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001134771.2(SLC12A5):c.116T>A (p.Val39Asp)
NM_006178.4(NSF):c.1688C>T (p.Pro563Leu) rs2146266663

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