ClinVar Miner

List of variants studied for deafness-lymphedema-leukemia syndrome by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_001145661.2(GATA2):c.1009C>T (p.Arg337Ter) rs387906632
NM_001145661.2(GATA2):c.1082G>T (p.Arg361Leu) rs387906634
NM_001145661.2(GATA2):c.1117T>C (p.Cys373Arg) rs387906633
NM_032638.5(GATA2):c.232dup (p.Arg78fs) rs1576749301
NM_032638.5(GATA2):c.312_313dup (p.Leu105fs) rs1576749168

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