ClinVar Miner

List of variants studied for hereditary hyperekplexia by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260 0.00939
NM_004211.5(SLC6A5):c.2114A>G (p.Tyr705Cys) rs143918578 0.00004
NM_000171.4(GLRA1):c.921dup (p.Val308fs)

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