List of variants studied for hereditary hyperekplexia by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000171.4(GLRA1):c.1213C>T (p.Arg405Ter)	rs375152105	0.00001
NM_000171.4(GLRA1):c.2T>C (p.Met1Thr)
NM_000171.4(GLRA1):c.461T>A (p.Val154Asp)
NM_000171.4(GLRA1):c.896G>A (p.Arg299Gln)	rs121918408
NM_001353921.2(ARHGEF9):c.1448A>G (p.Asn483Ser)	rs2147114604
NM_004211.5(SLC6A5):c.2039G>A (p.Cys680Tyr)

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