ClinVar Miner

List of variants reported as likely benign for Kostmann syndrome by Invitae

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP
NM_001018837.2(HAX1):c.54-92GAA[4] rs753894148
NM_006118.3(HAX1):c.514G>A (p.Val172Ile) rs141970914
NM_006118.3(HAX1):c.593C>T (p.Pro198Leu) rs146152769
NM_006118.4(HAX1):c.357A>G (p.Leu119=) rs762197407
NM_006118.4(HAX1):c.36C>G (p.Gly12=) rs201477841
NM_006118.4(HAX1):c.411G>A (p.Gln137=) rs766622654
NM_006118.4(HAX1):c.436G>A (p.Glu146Lys) rs114883767
NM_006118.4(HAX1):c.505-4G>A rs186219647
NM_006118.4(HAX1):c.505-9C>T rs779604569
NM_006118.4(HAX1):c.636T>C (p.Ser212=) rs146312637

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