ClinVar Miner

List of variants studied for autosomal dominant epilepsy with auditory features by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.4978G>A (p.Ala1660Thr)
NM_005045.4(RELN):c.8870G>T (p.Gly2957Val)
NM_005045.4(RELN):c.9973A>G (p.Thr3325Ala)

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