ClinVar Miner

List of variants in gene PEX1 studied for Leber congenital amaurosis

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420

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