ClinVar Miner

List of variants in gene PRPF8 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006445.3(PRPF8):c.6972dup (p.Val2325Glyfs) rs1555550025
NM_006445.4(PRPF8):c.5792C>T (p.Thr1931Met) rs1911391944
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) rs1555550617
NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs) rs1064797215
NM_006445.4(PRPF8):c.6976del (p.Tyr2326fs)

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