List of variants reported as likely pathogenic for hereditary hyperekplexia by Revvity Omics, Revvity

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000171.4(GLRA1):c.736C>T (p.Arg246Trp)	rs751659671	0.00002
NM_000171.4(GLRA1):c.569C>T (p.Thr190Met)	rs781570584	0.00001
NM_000171.4(GLRA1):c.147del (p.Ser50fs)
NM_004211.5(SLC6A5):c.677del (p.Gly226fs)

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