ClinVar Miner

List of variants in gene TOPORS studied for Retinitis Pigmentosa, Dominant

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005802.5(TOPORS):c.*139del rs140010425
NM_005802.5(TOPORS):c.*139dup rs140010425
NM_005802.5(TOPORS):c.*362del rs34721491
NM_005802.5(TOPORS):c.*647dup rs886063850
NM_005802.5(TOPORS):c.*733_*737del rs201977387
NM_005802.5(TOPORS):c.264A>G (p.Lys88=) rs886063855

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