ClinVar Miner

List of variants in gene PRPF8 reported by GeneDx

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Gene type:
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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_006445.4(PRPF8):c.891T>C (p.Asn297=) rs7503397 0.31150
NM_006445.4(PRPF8):c.637T>C (p.Leu213=) rs11559305 0.27527
NM_006445.4(PRPF8):c.6588T>C (p.His2196=) rs1802491 0.21248
NM_006445.4(PRPF8):c.2679G>A (p.Glu893=) rs1004311291 0.00002
NM_006445.4(PRPF8):c.935A>T (p.Tyr312Phe) rs940657634 0.00001
NM_006445.4(PRPF8):c.1612T>C (p.Ser538Pro)
NM_006445.4(PRPF8):c.1691A>G (p.Tyr564Cys) rs1025677958
NM_006445.4(PRPF8):c.1752T>A (p.His584Gln)
NM_006445.4(PRPF8):c.17C>T (p.Pro6Leu) rs2151133802
NM_006445.4(PRPF8):c.1890_1894del (p.Trp630fs) rs1555553703
NM_006445.4(PRPF8):c.1912C>T (p.Leu638Phe)
NM_006445.4(PRPF8):c.2389-6T>G
NM_006445.4(PRPF8):c.2440G>A (p.Val814Met)
NM_006445.4(PRPF8):c.2602G>A (p.Glu868Lys) rs2151127906
NM_006445.4(PRPF8):c.2684G>C (p.Gly895Ala)
NM_006445.4(PRPF8):c.2759C>T (p.Ala920Val)
NM_006445.4(PRPF8):c.3049A>G (p.Ile1017Val)
NM_006445.4(PRPF8):c.3150G>C (p.Leu1050Phe) rs2151126880
NM_006445.4(PRPF8):c.319C>T (p.Pro107Ser)
NM_006445.4(PRPF8):c.3224A>T (p.Gln1075Leu)
NM_006445.4(PRPF8):c.3319C>T (p.Arg1107Trp) rs2151126253
NM_006445.4(PRPF8):c.3614A>C (p.Glu1205Ala) rs2151125843
NM_006445.4(PRPF8):c.3728G>A (p.Arg1243His) rs1219818327
NM_006445.4(PRPF8):c.3890C>A (p.Thr1297Lys) rs1555551460
NM_006445.4(PRPF8):c.3893G>A (p.Arg1298His) rs2151116846
NM_006445.4(PRPF8):c.3905G>A (p.Gly1302Glu)
NM_006445.4(PRPF8):c.3935C>A (p.Pro1312His)
NM_006445.4(PRPF8):c.405C>A (p.Val135=) rs1912966508
NM_006445.4(PRPF8):c.4204C>T (p.Arg1402Cys)
NM_006445.4(PRPF8):c.4339-2A>G rs2151116387
NM_006445.4(PRPF8):c.4673C>T (p.Thr1558Met)
NM_006445.4(PRPF8):c.4687C>T (p.His1563Tyr)
NM_006445.4(PRPF8):c.4733G>A (p.Arg1578Gln) rs1064796991
NM_006445.4(PRPF8):c.4792G>C (p.Asp1598His) rs759664867
NM_006445.4(PRPF8):c.4946+3_4946+6del
NM_006445.4(PRPF8):c.4G>A (p.Ala2Thr)
NM_006445.4(PRPF8):c.5113A>G (p.Ile1705Val)
NM_006445.4(PRPF8):c.5186C>A (p.Ala1729Asp) rs2151114664
NM_006445.4(PRPF8):c.5207C>T (p.Ala1736Val)
NM_006445.4(PRPF8):c.5308G>A (p.Glu1770Lys)
NM_006445.4(PRPF8):c.5353G>A (p.Val1785Ile) rs1555550982
NM_006445.4(PRPF8):c.5491A>G (p.Lys1831Glu) rs2151114374
NM_006445.4(PRPF8):c.5506-5T>G rs2151113236
NM_006445.4(PRPF8):c.550G>C (p.Asp184His) rs2151131953
NM_006445.4(PRPF8):c.5707G>A (p.Gly1903Arg)
NM_006445.4(PRPF8):c.571A>G (p.Ile191Val) rs1015837182
NM_006445.4(PRPF8):c.5769G>A (p.Trp1923Ter)
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) rs1555550617
NM_006445.4(PRPF8):c.5840A>G (p.Asn1947Ser) rs1555550610
NM_006445.4(PRPF8):c.5974G>A (p.Gly1992Ser)
NM_006445.4(PRPF8):c.6178A>G (p.Ser2060Gly)
NM_006445.4(PRPF8):c.6299C>T (p.Thr2100Ile) rs2151111184
NM_006445.4(PRPF8):c.6379dup (p.Tyr2127fs) rs1555550180
NM_006445.4(PRPF8):c.644A>G (p.Asp215Gly) rs1567692547
NM_006445.4(PRPF8):c.6461A>G (p.His2154Arg) rs1911081044
NM_006445.4(PRPF8):c.6895G>A (p.Ala2299Thr)
NM_006445.4(PRPF8):c.6968G>A (p.Gly2323Glu) rs2151108937
NM_006445.4(PRPF8):c.6991del (p.Glu2331fs) rs1910994795
NM_006445.4(PRPF8):c.866A>G (p.Gln289Arg)

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