ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_006445.4(PRPF8):c.4467C>T (p.Leu1489=) rs113849788 0.00488
NM_006445.4(PRPF8):c.5352C>T (p.Asn1784=) rs141456140 0.00096
NM_006445.4(PRPF8):c.6834G>A (p.Ser2278=) rs147050234 0.00076
NM_006445.4(PRPF8):c.1720-7A>G rs200224854 0.00039
NM_006445.4(PRPF8):c.3084T>C (p.Tyr1028=) rs75163090 0.00035
NM_006445.4(PRPF8):c.1253C>G (p.Thr418Ser) rs142411659 0.00024
NM_006445.4(PRPF8):c.1869G>C (p.Lys623Asn) rs200389505 0.00024
NM_006445.4(PRPF8):c.3633C>T (p.Asp1211=) rs148599874 0.00017
NM_006445.4(PRPF8):c.1221C>T (p.Ala407=) rs374996889 0.00006
NM_006445.4(PRPF8):c.6750C>T (p.Gly2250=) rs759598868 0.00004
NM_006445.4(PRPF8):c.3576C>T (p.Phe1192=) rs574003170 0.00002
NM_006445.4(PRPF8):c.5987+3G>T rs368882006 0.00002
NM_006445.4(PRPF8):c.2257A>G (p.Thr753Ala) rs1555553557 0.00001
NM_006445.4(PRPF8):c.6428G>A (p.Arg2143His) rs1200243929 0.00001
NM_006445.3(PRPF8):c.6972dup (p.Val2325Glyfs) rs1555550025
NM_006445.4(PRPF8):c.1281C>A (p.Val427=) rs528335604
NM_006445.4(PRPF8):c.2453A>G (p.Glu818Gly) rs1912599686
NM_006445.4(PRPF8):c.5413G>A (p.Gly1805Arg) rs1597230180
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.6066G>A (p.Gln2022=)
NM_006445.4(PRPF8):c.636G>A (p.Pro212=)
NM_006445.4(PRPF8):c.6651-3C>A rs1467838102
NM_006445.4(PRPF8):c.6821C>T (p.Pro2274Leu) rs1597223721
NM_006445.4(PRPF8):c.6938A>G (p.His2313Arg) rs1555550045
NM_006445.4(PRPF8):c.693A>G (p.Thr231=)
NM_006445.4(PRPF8):c.6966G>T (p.Glu2322Asp) rs766407266
NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs) rs1064797215
NM_006445.4(PRPF8):c.6974_6994del (p.Val2325_Glu2331del) rs1910994325
NM_006445.4(PRPF8):c.6976del (p.Tyr2326fs)

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