List of variants in gene GLRB reported as likely pathogenic for hereditary hyperekplexia

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: 4

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HGVS	dbSNP	gnomAD frequency
NC_000004.11:g.(?_158091564)_(158091880_?)del
NC_000004.12:g.(?_157170412)_(157170748_?)del
NM_000824.5(GLRB):c.1414C>T (p.Arg472Ter)
NM_000824.5(GLRB):c.297+1G>T	rs771465893

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