ClinVar Miner

List of variants studied for Leber congenital amaurosis 1 by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_003322.6(TULP1):c.855dup (p.Val286fs) rs1554125752
NM_004744.5(LRAT):c.40G>T (p.Glu14Ter) rs768255532
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175

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