ClinVar Miner

List of variants in gene PRPF8 reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006445.4(PRPF8):c.38C>T (p.Pro13Leu)
NM_006445.4(PRPF8):c.6901C>A (p.Pro2301Thr) rs121434239
NM_006445.4(PRPF8):c.6926A>T (p.His2309Leu) rs121434236
NM_006445.4(PRPF8):c.6941T>C (p.Phe2314Ser) rs1911000944
NM_006445.4(PRPF8):c.6942C>G (p.Phe2314Leu) rs1911000715
NM_006445.4(PRPF8):c.6961C>T (p.Gln2321Ter)
NM_006445.4(PRPF8):c.6991G>T (p.Glu2331Ter) rs1597223220

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