ClinVar Miner

List of variants in gene HAX1 reported as likely pathogenic for agranulocytosis

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_006118.4(HAX1):c.317-2A>G rs371504152 0.00009
NM_006118.4(HAX1):c.407del (p.His136fs) rs748595772 0.00001
NM_006118.4(HAX1):c.663+1G>A rs41313932 0.00001
GRCh37/hg19 1q21.3(chr1:154247426-154248177)
NC_000001.11:g.(?_154274930)_(154275721_?)del
NM_006118.4(HAX1):c.182T>G (p.Phe61Cys) rs146452018
NM_006118.4(HAX1):c.463dup (p.Gln155fs) rs1572018886
NM_006118.4(HAX1):c.504+1G>A rs2149140065
NM_006118.4(HAX1):c.54-2A>T rs764765550
NM_006118.4(HAX1):c.556+1G>A
NM_006118.4(HAX1):c.556+1G>C rs1684901295
NM_006118.4(HAX1):c.557-1G>A
NM_006118.4(HAX1):c.557-1G>C rs1684904805
NM_006118.4(HAX1):c.601C>T (p.Gln201Ter)
NM_006118.4(HAX1):c.664-1G>T rs2149140690

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