ClinVar Miner

List of variants reported as uncertain significance for Leber congenital amaurosis by Mendelics

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442
NM_004744.5(LRAT):c.298G>A (p.Gly100Ser)
NM_020366.3(RPGRIP1):c.2012G>A (p.Gly671Glu)
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr)
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749

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