ClinVar Miner

List of variants studied for perceptual disorders by Eye Genetics Research Group, Children's Medical Research Institute

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000329.3(RPE65):c.93A>G (p.Thr31=) rs2100834154
NM_001034853.2(RPGR):c.1415-9A>G rs2067278631
NM_022787.3(NMNAT1):c.[53A>G];[769G>A]
NM_022787.4(NMNAT1):c.271G>A (p.Glu91Lys) rs1271498710

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