ClinVar Miner

List of variants in gene PRPF8 reported as uncertain significance for Retinitis pigmentosa 13

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_006445.4(PRPF8):c.5794-3C>G rs776617795 0.00006
NM_006445.4(PRPF8):c.385G>A (p.Val129Ile) rs548682365 0.00003
NM_006445.4(PRPF8):c.654-5C>T rs143954665 0.00003
NM_006445.4(PRPF8):c.1719+4A>G rs774567975 0.00001
NM_006445.4(PRPF8):c.6967G>T (p.Gly2323Trp) rs1910997588 0.00001
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.1684G>A (p.Val562Met) rs777124467
NM_006445.4(PRPF8):c.2140A>G (p.Ser714Gly)
NM_006445.4(PRPF8):c.239del (p.Lys80fs) rs1913055670
NM_006445.4(PRPF8):c.3166C>T (p.His1056Tyr)
NM_006445.4(PRPF8):c.3368A>G (p.Glu1123Gly) rs1912457869
NM_006445.4(PRPF8):c.6062A>T (p.Gln2021Leu)
NM_006445.4(PRPF8):c.6466A>C (p.Thr2156Pro) rs2151109770
NM_006445.4(PRPF8):c.6837G>T (p.Trp2279Cys) rs2151109229
NM_006445.4(PRPF8):c.6838A>G (p.Asn2280Asp) rs1911029601
NM_006445.4(PRPF8):c.6902C>T (p.Pro2301Leu) rs2151109012
NM_006445.4(PRPF8):c.6926A>T (p.His2309Leu) rs121434236
NM_006445.4(PRPF8):c.809A>G (p.Asn270Ser) rs756656471
NM_006445.4(PRPF8):c.914G>T (p.Arg305Leu)
NM_006445.4(PRPF8):c.926G>A (p.Arg309His) rs775023296

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