ClinVar Miner

List of variants in gene HAX1 reported as benign for Kostmann syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_006118.3(HAX1):c.-52G>T rs578086387
NM_006118.3(HAX1):c.-58T>G rs11265425
NM_006118.3(HAX1):c.207A>T (p.Pro69=) rs142150013
NM_006118.3(HAX1):c.514G>A (p.Val172Ile) rs141970914
NM_006118.3(HAX1):c.53+14C>T rs115683875

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