ClinVar Miner

List of variants in gene GLRA1 reported as likely pathogenic for hereditary hyperekplexia

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000171.4(GLRA1):c.736C>T (p.Arg246Trp) rs751659671 0.00002
NM_000171.4(GLRA1):c.184+2T>C rs1754097992 0.00001
NM_000171.4(GLRA1):c.299G>A (p.Arg100His) rs281864914 0.00001
NM_000171.4(GLRA1):c.523A>G (p.Met175Val) rs121918414 0.00001
NM_000171.4(GLRA1):c.569C>T (p.Thr190Met) rs781570584 0.00001
NM_000171.4(GLRA1):c.1246G>A (p.Asp416Asn) rs1181626947
NM_000171.4(GLRA1):c.1258C>T (p.Arg420Cys)
NM_000171.4(GLRA1):c.147del (p.Ser50fs)
NM_000171.4(GLRA1):c.184+1G>A
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.298C>A (p.Arg100Ser)
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.697+1G>A rs1753002738
NM_000171.4(GLRA1):c.697+2T>A
NM_000171.4(GLRA1):c.698-2del rs1752914673
NM_000171.4(GLRA1):c.801G>T (p.Trp267Cys)
NM_000171.4(GLRA1):c.859A>G (p.Thr287Ala) rs1554083576
NM_000171.4(GLRA1):c.896G>T (p.Arg299Leu) rs121918408
NM_000171.4(GLRA1):c.913-1G>A
NM_000171.4(GLRA1):c.921dup (p.Val308fs)

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