ClinVar Miner

List of variants reported as pathogenic by McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001365902.3(NFIX):c.716C>G (p.Ser239Ter) rs587779381
NM_018486.3(HDAC8):c.356C>T (p.Thr119Met) rs587779380

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