List of variants reported as likely pathogenic for Hyperekplexia 1

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000171.4(GLRA1):c.1030C>T (p.Arg344Ter)	rs281864913	0.00003
NM_000171.4(GLRA1):c.1246G>A (p.Asp416Asn)	rs1181626947	0.00001
NM_000171.4(GLRA1):c.184+2T>C	rs1754097992	0.00001
NM_000171.4(GLRA1):c.277C>T (p.Arg93Trp)	rs199547699	0.00001
NM_000171.4(GLRA1):c.569C>T (p.Thr190Met)	rs781570584	0.00001
NM_000171.4(GLRA1):c.736C>T (p.Arg246Trp)	rs751659671	0.00001
NM_000171.4(GLRA1):c.147del (p.Ser50fs)	rs2480063154
NM_000171.4(GLRA1):c.206G>A (p.Cys69Tyr)	rs1581645142
NM_000171.4(GLRA1):c.298C>A (p.Arg100Ser)	rs1581623910
NM_000171.4(GLRA1):c.298del (p.Arg100fs)	rs281864915
NM_000171.4(GLRA1):c.403del (p.His135fs)	rs1581623798
NM_000171.4(GLRA1):c.503T>G (p.Met168Arg)
NM_000171.4(GLRA1):c.559+1G>A	rs1581620729
NM_000171.4(GLRA1):c.560-1G>C	rs748908505
NM_000171.4(GLRA1):c.698-2del	rs1752914673
NM_000171.4(GLRA1):c.921dup (p.Val308fs)	rs2479903658

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