ClinVar Miner

List of variants reported as pathogenic for Retinitis pigmentosa 77

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001329556.3(REEP6):c.557dup (p.Val187fs) rs1057519427
NM_138393.4(REEP6):c.349-1G>A rs2085005383
NM_138393.4(REEP6):c.383C>T (p.Pro128Leu) rs1057519317
NM_138393.4(REEP6):c.404T>C (p.Leu135Pro) rs1057519316
NM_138393.4(REEP6):c.448del (p.Ala150fs) rs1057519341

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