List of variants reported as uncertain significance for hereditary hyperekplexia by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001321967.2(ATAD1):c.121A>G (p.Ile41Val)	rs778681381	0.00011
NM_004211.5(SLC6A5):c.1969+4A>T	rs1476186922	0.00001
NM_000171.4(GLRA1):c.711C>G (p.Cys237Trp)
NM_000824.5(GLRB):c.596T>G (p.Met199Arg)	rs398122856
NM_001353921.2(ARHGEF9):c.716A>G (p.Asp239Gly)
NM_004211.5(SLC6A5):c.784G>C (p.Val262Leu)

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