ClinVar Miner

List of variants studied for hereditary hyperekplexia by Mendelics

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004211.5(SLC6A5):c.485C>G (p.Ala162Gly) rs1443549 0.99417
NM_004211.5(SLC6A5):c.371T>C (p.Phe124Ser) rs1443548 0.79432
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260 0.00939
NM_004211.5(SLC6A5):c.2114A>G (p.Tyr705Cys) rs143918578 0.00004
NM_004211.5(SLC6A5):c.1640T>C (p.Phe547Ser) rs772652517 0.00001
NM_000824.5(GLRB):c.122+1G>A rs1579175843
NM_001353921.2(ARHGEF9):c.178G>T (p.Glu60Ter) rs1602577529

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