ClinVar Miner

List of variants in gene GLRA1 reported as not provided for hereditary hyperekplexia

Included ClinVar conditions (7):

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

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000171.4(GLRA1):c.448C>T (p.Arg150Trp)	rs374834686	0.00005
NM_000171.4(GLRA1):c.593G>C (p.Trp198Ser)	rs202247813

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