List of variants in gene GPHN reported as uncertain significance 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
NM_020806.5(GPHN):c.28A>T (p.Asn10Tyr)	rs121908539	0.00016
NM_020806.5(GPHN):c.826C>T (p.Arg276Trp)	rs777009433	0.00004
NM_020806.5(GPHN):c.127G>A (p.Val43Ile)	rs117256383
NM_020806.5(GPHN):c.175G>A (p.Val59Ile)	rs2059386675

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