List of variants reported as uncertain significance for hereditary hyperekplexia by New York Genome Center

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001353921.2(ARHGEF9):c.*2684A>G	rs189661969	0.00011
NM_000171.4(GLRA1):c.1325G>A (p.Arg442His)	rs200130685	0.00006
NM_000171.4(GLRA1):c.1295T>C (p.Met432Thr)	rs1284734503	0.00004
NM_001353921.2(ARHGEF9):c.421C>T (p.Arg141Trp)	rs782001294	0.00001

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