ClinVar Miner

List of variants studied for Leber congenital amaurosis by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (41):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter)
NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter) rs1006935198
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000329.3(RPE65):c.556G>A (p.Asp186Asn) rs1553153243
NM_014336.5(AIPL1):c.294del (p.Ile99fs)
NM_020366.3(RPGRIP1):c.3467_3468insCT (p.Thr1156_Glu1157insTer) rs776698746
NM_020366.3(RPGRIP1):c.3617+1G>A rs771116776
NM_201253.3(CRB1):c.2389T>C (p.Ser797Pro) rs1355198242

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