List of variants studied for hereditary hyperekplexia by Baylor Genetics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_004211.5(SLC6A5):c.1346G>A (p.Gly449Glu)	rs552955627	0.00005
NM_004211.5(SLC6A5):c.2186T>C (p.Ile729Thr)	rs142855098	0.00002
NM_004211.5(SLC6A5):c.1913C>T (p.Ser638Phe)	rs753023936	0.00001
NM_004211.5(SLC6A5):c.1969+4A>T	rs1476186922	0.00001
NM_004211.5(SLC6A5):c.683C>A (p.Ala228Asp)	rs371265931	0.00001
NM_001353921.2(ARHGEF9):c.1061T>G (p.Met354Arg)
NM_001353921.2(ARHGEF9):c.1306del (p.Glu436fs)	rs1602253296
NM_001353921.2(ARHGEF9):c.402+1G>A	rs2052538764
NM_001353921.2(ARHGEF9):c.816-9T>C	rs1057522347
NM_004211.5(SLC6A5):c.1436_1737+314del
NM_004211.5(SLC6A5):c.1738-8G>A	rs1853223940
NM_004211.5(SLC6A5):c.323del (p.Pro108fs)	rs281864923
NM_020806.5(GPHN):c.175G>A (p.Val59Ile)	rs2059386675

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