ClinVar Miner

List of variants reported as uncertain significance for Leber congenital amaurosis by Human Genetics - Radboudumc,Radboudumc

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser) rs1395763356
NM_018418.5(SPATA7):c.19G>T (p.Val7Phe) rs371609982
NM_153638.3(PANK2):c.1283G>A (p.Cys428Tyr) rs1012947103

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