ClinVar Miner

List of variants reported as likely pathogenic for retinal disorder by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000266.4(NDP):c.200G>T (p.Gly67Val) rs1460859456
NM_000329.3(RPE65):c.556G>A (p.Asp186Asn) rs1553153243
NM_001379500.1(COL18A1):c.1876C>T (p.Arg626Ter) rs753935209
NM_002335.4(LRP5):c.1142A>G (p.Asp381Gly) rs886040977
NM_002335.4(LRP5):c.205G>T (p.Asp69Tyr) rs1057519574
NM_002335.4(LRP5):c.4489-2A>G rs1057519575
NM_002335.4(LRP5):c.917G>A (p.Cys306Tyr) rs2098630548
NM_014336.5(AIPL1):c.294del (p.Ile99fs) rs1597331616
NM_201253.3(CRB1):c.2389T>C (p.Ser797Pro) rs1355198242

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