ClinVar Miner

List of variants in gene PCDH15 reported as pathogenic for Retinal dystrophy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter)	rs1057517251
NM_001384140.1(PCDH15):c.274C>T (p.Gln92Ter)	rs143842048

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