ClinVar Miner

List of variants reported as pathogenic for hereditary hyperekplexia by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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.675C>A (p.Tyr225Ter)	rs2113349880
NM_000171.4(GLRA1):c.896G>A (p.Arg299Gln)	rs121918408
NM_004211.5(SLC6A5):c.1286C>T (p.Pro429Leu)

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