ClinVar Miner

List of variants in gene AGBL5 studied for Retinitis pigmentosa

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_021831.6(AGBL5):c.842G>A (p.Arg281His) rs1448861312 0.00002
NM_021831.6(AGBL5):c.971C>T (p.Pro324Leu) rs766193452 0.00001
NM_021831.6(AGBL5):c.1787_1788del (p.His596fs) rs1285501658

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