ClinVar Miner

List of variants reported as uncertain significance for Leber congenital amaurosis 1 by Mendelics

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749 0.00049
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442 0.00032
NM_020366.4(RPGRIP1):c.2012G>A (p.Gly671Glu) rs1348186141 0.00001
NM_004744.5(LRAT):c.298G>A (p.Gly100Ser) rs1035206645
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr) rs1571522690

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