ClinVar Miner

List of variants in gene RPE65 studied for congenital isolated adrenocorticotropic hormone deficiency

Included ClinVar conditions (1):
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_000329.3(RPE65):c.110G>C (p.Trp37Ser) rs1557603965
NM_000329.3(RPE65):c.203A>C (p.His68Pro) rs1557603862
NM_000329.3(RPE65):c.722A>G (p.His241Arg) rs1557600322
NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter) rs988133284

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