ClinVar Miner

List of variants in gene PRPF8 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006445.4(PRPF8):c.104G>T (p.Arg35Leu) rs774010147
NM_006445.4(PRPF8):c.1208C>T (p.Ala403Val) rs1912802818
NM_006445.4(PRPF8):c.239del (p.Lys80fs) rs1913055670
NM_006445.4(PRPF8):c.809A>G (p.Asn270Ser) rs756656471
NM_006445.4(PRPF8):c.926G>A (p.Arg309His) rs775023296

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