ClinVar Miner

List of variants reported as pathogenic for Kostmann syndrome

Included ClinVar conditions (1):
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Total variants: 12
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HGVS dbSNP
HAX1, 1-BP DEL, 91G
HAX1, 1-BP INS, 431G
HAX1, 59-BP DEL, NT376
NM_001018837.2(HAX1):c.54-107del rs764082747
NM_001018837.2(HAX1):c.54-25dup
NM_001018837.2(HAX1):c.54-68_54-67insA
NM_001018837.2(HAX1):c.54-73dup
NM_006118.3(HAX1):c.256C>T (p.Arg86Ter) rs121908165
NM_006118.3(HAX1):c.383C>G (p.Ser128Ter) rs1398108109
NM_006118.3(HAX1):c.407del (p.His136fs)
NM_006118.3(HAX1):c.430dup (p.Val144fs) rs770288337
NM_006118.3(HAX1):c.568C>T (p.Gln190Ter) rs74315322

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