ClinVar Miner

List of variants in gene ACSL4 reported as pathogenic for X-linked disease

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001318510.2(ACSL4):c.1001C>T (p.Pro334Leu) rs122458139
NM_001318510.2(ACSL4):c.1003-2A>G rs1569423317
NM_001318510.2(ACSL4):c.1585C>A (p.Arg529Ser) rs122458138
NM_001318510.2(ACSL4):c.802del (p.Leu268fs) rs2147437405

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