ClinVar Miner

List of variants studied for hereditary hyperekplexia by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004211.5(SLC6A5):c.2103G>A (p.Glu701=) rs2276433 0.35869
NM_004211.5(SLC6A5):c.266C>A (p.Ala89Glu) rs61736602 0.02191
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260 0.00939
NM_000824.5(GLRB):c.527+7T>C rs138020195 0.00215

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