ClinVar Miner

List of variants studied for GATA2 deficiency with susceptibility to MDS/AML by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_032638.5(GATA2):c.136G>A (p.Asp46Asn) rs370750401 0.00001
NM_032638.5(GATA2):c.659G>T (p.Ser220Ile) rs2068689916

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