ClinVar Miner

List of variants reported as likely pathogenic for RPGR-related retinopathy by Mendelics

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.2140G>T (p.Glu714Ter) rs2147199519
NM_001034853.2(RPGR):c.29-2A>G rs2147291936
NM_001034853.2(RPGR):c.3200_3218dup (p.Glu1075fs) rs2147190484
NM_006915.3(RP2):c.102G>A (p.Lys34=) rs1556313552

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