ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001145661.2(GATA2):c.1017+8C>T rs200848213
NM_001145661.2(GATA2):c.1084C>T (p.Arg362Ter) rs1553770510
NM_001145661.2(GATA2):c.661A>C (p.Met221Leu) rs1252930387
NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg) rs1576745260
NM_032638.5(GATA2):c.1046G>A (p.Cys349Tyr) rs1576745256
NM_032638.5(GATA2):c.831del (p.Phe278fs) rs1576748378

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