ClinVar Miner

List of variants in gene COX4I2 reported as uncertain significance for anemia due to erythrocyte enzyme disorder

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_032609.2(COX4I2):c.-70C>T rs577065484
NM_032609.3(COX4I2):c.1-6C>T rs201853480
NM_032609.3(COX4I2):c.167A>C (p.Glu56Ala) rs751781798
NM_032609.3(COX4I2):c.231C>T (p.His77=) rs201106165
NM_032609.3(COX4I2):c.345C>T (p.Phe115=) rs765094514
NM_032609.3(COX4I2):c.396G>A (p.Pro132=) rs150196183
NM_032609.3(COX4I2):c.430C>G (p.Leu144Val) rs751561918
NM_032609.3(COX4I2):c.463G>C (p.Val155Leu) rs886056575
NM_032609.3(COX4I2):c.83-8_83-7del rs528430338

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