ClinVar Miner

List of variants in gene PRPF8 reported as pathogenic by Invitae

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_006445.4(PRPF8):c.1777C>T (p.Arg593Ter)
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.6901C>T (p.Pro2301Ser) rs121434239
NM_006445.4(PRPF8):c.6910T>G (p.Phe2304Val) rs1911004419
NM_006445.4(PRPF8):c.6912C>A (p.Phe2304Leu)
NM_006445.4(PRPF8):c.6912C>G (p.Phe2304Leu) rs121434240
NM_006445.4(PRPF8):c.6926A>G (p.His2309Arg) rs121434236
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly) rs752997229
NM_006445.4(PRPF8):c.6929G>A (p.Arg2310Lys) rs121434238
NM_006445.4(PRPF8):c.6930G>C (p.Arg2310Ser) rs1911001854
NM_006445.4(PRPF8):c.6930G>T (p.Arg2310Ser)
NM_006445.4(PRPF8):c.6942C>A (p.Phe2314Leu)
NM_006445.4(PRPF8):c.6956_6957dup (p.Leu2320fs)
NM_006445.4(PRPF8):c.6974_6994del (p.Val2325_Glu2331del) rs1910994325
NM_006445.4(PRPF8):c.6991del (p.Glu2331fs) rs1910994795
NM_006445.4(PRPF8):c.7000T>A (p.Tyr2334Asn) rs1193604660
NM_006445.4(PRPF8):c.7007G>C (p.Ter2336Ser) rs778438685

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