ClinVar Miner

List of variants reported as likely pathogenic for Hyperekplexia 1

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Total variants: 10
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HGVS dbSNP
NM_000171.4(GLRA1):c.1246G>A (p.Asp416Asn) rs1181626947
NM_000171.4(GLRA1):c.184+2T>C
NM_000171.4(GLRA1):c.206G>A (p.Cys69Tyr) rs1581645142
NM_000171.4(GLRA1):c.277C>T (p.Arg93Trp) rs199547699
NM_000171.4(GLRA1):c.403del (p.His135fs) rs1581623798
NM_000171.4(GLRA1):c.559+1G>A rs1581620729
NM_000171.4(GLRA1):c.560-1G>C
NM_000171.4(GLRA1):c.698-2del
NM_000171.4(GLRA1):c.859A>G (p.Thr287Ala) rs1554083576
NM_000171.4(GLRA1):c.896G>T (p.Arg299Leu) rs121918408

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