ClinVar Miner

List of variants in gene PRPF8 reported by Fulgent Genetics, Fulgent Genetics

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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_006445.4(PRPF8):c.1290-10A>G rs73291009 0.01904
NM_006445.4(PRPF8):c.2873-13T>C rs57276551 0.01890
NM_006445.4(PRPF8):c.5469C>T (p.His1823=) rs115404141 0.00600
NM_006445.4(PRPF8):c.4467C>T (p.Leu1489=) rs113849788 0.00488
NM_006445.4(PRPF8):c.2493C>G (p.Ser831=) rs146749363 0.00299
NM_006445.4(PRPF8):c.3447-12C>T rs148435449 0.00138
NM_006445.4(PRPF8):c.5794-3C>G rs776617795 0.00006
NM_006445.4(PRPF8):c.654-5C>T rs143954665 0.00003
NM_006445.4(PRPF8):c.1985-6dup rs1176602293
NM_006445.4(PRPF8):c.603C>T (p.Ala201=) rs148215037
NM_006445.4(PRPF8):c.6926A>C (p.His2309Pro) rs121434236

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