List of variants studied for hereditary hyperekplexia by Revvity Omics, Revvity

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000171.4(GLRA1):c.736C>T (p.Arg246Trp)	rs751659671	0.00002
NM_001353921.2(ARHGEF9):c.955A>G (p.Ile319Val)	rs781938857	0.00002
NM_000171.4(GLRA1):c.523A>G (p.Met175Val)	rs121918414	0.00001
NM_000171.4(GLRA1):c.569C>T (p.Thr190Met)	rs781570584	0.00001
NM_001353921.2(ARHGEF9):c.639G>A (p.Met213Ile)	rs1384182085	0.00001
NM_000171.4(GLRA1):c.147del (p.Ser50fs)
NM_000171.4(GLRA1):c.14A>G (p.Asn5Ser)
NM_000171.4(GLRA1):c.185-3C>T
NM_000171.4(GLRA1):c.675C>A (p.Tyr225Ter)	rs2113349880
NM_001353921.2(ARHGEF9):c.180G>A (p.Glu60=)
NM_001353921.2(ARHGEF9):c.653T>C (p.Leu218Pro)
NM_001353921.2(ARHGEF9):c.886C>T (p.Arg296Ter)	rs1135401795
NM_004211.5(SLC6A5):c.1967A>C (p.Tyr656Ser)
NM_004211.5(SLC6A5):c.677del (p.Gly226fs)
NM_004211.5(SLC6A5):c.863A>G (p.Asn288Ser)

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