ClinVar Miner

List of variants in gene COX4I2 studied for familial hemolytic anemia

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_032609.3(COX4I2):c.412G>A (p.Glu138Lys) rs119455950 0.00218
NM_032609.3(COX4I2):c.88G>C (p.Gly30Arg) rs148327783 0.00103
NM_032609.3(COX4I2):c.175G>C (p.Ala59Pro) rs147223483 0.00101
NM_032609.3(COX4I2):c.408G>A (p.Thr136=) rs375116097 0.00006
NM_032609.3(COX4I2):c.28G>A (p.Val10Met)
NM_032609.3(COX4I2):c.333C>G (p.Phe111Leu)
NM_032609.3(COX4I2):c.83-8_83-7del rs528430338

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