ClinVar Miner

List of variants studied for autosomal recessive severe congenital neutropenia by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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_000760.4(CSF3R):c.61G>A (p.Gly21Arg) rs200059719 0.00029
NM_000760.4(CSF3R):c.1253G>A (p.Arg418His) rs564880597 0.00006
NM_006118.4(HAX1):c.124G>T (p.Gly42Cys)

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