ClinVar Miner

List of variants studied for Neutropenia, severe congenital, 2, autosomal dominant by Mendelics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005263.5(GFI1):c.-14A>C rs200972824 0.00101
NM_005263.5(GFI1):c.1250C>T (p.Thr417Met) rs777241871 0.00008
NM_005263.5(GFI1):c.1208A>G (p.Lys403Arg) rs28936382 0.00004
NM_005263.5(GFI1):c.-100+686C>A rs1018517928

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