ClinVar Miner

List of variants reported as likely pathogenic for Hyperekplexia hereditary

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Total variants: 6
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HGVS dbSNP
NM_000171.3(GLRA1):c.1030C>T rs281864913
NM_000171.3(GLRA1):c.277C>T (p.Arg93Trp) rs199547699
NM_000171.3(GLRA1):c.859A>G (p.Thr287Ala) rs1554083576
NM_000171.3(GLRA1):c.896G>T (p.Arg299Leu) rs121918408
NM_001146040.1(GLRA1):c.1270G>A (p.Asp424Asn) rs1181626947
NM_001146040.1(GLRA1):c.252+2T>C rs1554085893

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