ClinVar Miner

List of variants studied for hereditary hyperekplexia by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000171.4(GLRA1):c.206G>A (p.Cys69Tyr) rs1581645142
NM_000171.4(GLRA1):c.559+1G>A rs1581620729
NM_000171.4(GLRA1):c.920A>G (p.Tyr307Cys) rs121918410
NM_001353921.2(ARHGEF9):c.402+1G>C
NM_001353921.2(ARHGEF9):c.813_814del (p.His271fs)

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