ClinVar Miner

List of variants reported as uncertain significance for hereditary hyperekplexia by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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_000171.4(GLRA1):c.94G>A (p.Ala32Thr)	rs779993828	0.00003
NM_000171.4(GLRA1):c.106A>G (p.Met36Val)	rs1754101255
NM_001353921.2(ARHGEF9):c.652C>G (p.Leu218Val)	rs2050412325

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