ClinVar Miner

List of variants studied for hereditary hyperekplexia by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001321967.2(ATAD1):c.767A>T (p.His256Leu) rs144419191 0.00060
NM_004211.5(SLC6A5):c.1640T>C (p.Phe547Ser) rs772652517 0.00001
NM_000171.4(GLRA1):c.49T>C (p.Phe17Leu) rs1754959178

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