ClinVar Miner

List of variants in gene VPS13B reported as pathogenic for Retinitis pigmentosa

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.5980_5981del (p.Asp1994fs) rs1830219226
NM_152564.5(VPS13B):c.8037C>G (p.Tyr2679Ter) rs777019428
NM_152564.5(VPS13B):c.979C>T (p.Gln327Ter) rs1205613982

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