ClinVar Miner

List of variants reported as pathogenic for retinitis pigmentosa 18 by OMIM

Included ClinVar conditions (1):

Retinitis pigmentosa 18

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004698.4(PRPF3):c.1466C>A (p.Ala489Asp)	rs121434243
NM_004698.4(PRPF3):c.1477C>T (p.Pro493Ser)	rs121434242
NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met)	rs121434241

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