ClinVar Miner

List of variants reported as uncertain significance for hereditary hyperekplexia by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (7):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001353921.2(ARHGEF9):c.1077G>A (p.Lys359=)	rs1556347185
NM_001353921.2(ARHGEF9):c.368G>A (p.Arg123His)	rs868956996
NM_001353921.2(ARHGEF9):c.740del (p.Leu246_Leu247insTer)	rs2050407403

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