ClinVar Miner

List of variants in gene IKZF5 reported as pathogenic for blood platelet disease

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001372123.1(IKZF5):c.286C>T (p.Arg96Trp) rs2133384781
NM_001372123.1(IKZF5):c.355T>C (p.Ser119Pro) rs1849295075
NM_001372123.1(IKZF5):c.401G>A (p.Gly134Glu) rs2133379889
NM_001372123.1(IKZF5):c.418T>C (p.Cys140Arg) rs2133379859
NM_001372123.1(IKZF5):c.463C>T (p.His155Tyr) rs2133379669

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