List of variants reported as likely pathogenic for hereditary hyperekplexia by Fulgent Genetics, Fulgent Genetics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_004211.5(SLC6A5):c.9C>A (p.Cys3Ter)	rs752254977	0.00002
NM_000171.4(GLRA1):c.569C>T (p.Thr190Met)	rs781570584	0.00001
NM_001321967.2(ATAD1):c.1070_1071del (p.His357fs)	rs751499706	0.00001
NM_000171.4(GLRA1):c.298del (p.Arg100fs)	rs281864915

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