ClinVar Miner

List of variants in gene combination GPHN, RDH12, ZFYVE26 reported as pathogenic for Leber congenital amaurosis

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys) rs28940313
NM_152443.3(RDH12):c.688C>G (p.Pro230Ala) rs104894476
NM_152443.3(RDH12):c.784dup (p.Ala262fs)
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261

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