ClinVar Miner

List of variants studied for Kostmann syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006118.4(HAX1):c.221G>A (p.Arg74His) rs151225652 0.00004
NM_006118.4(HAX1):c.46C>T (p.Pro16Ser) rs763746492 0.00001
NM_006118.4(HAX1):c.171C>T (p.Pro57=)

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