ClinVar Miner

List of variants in gene PRPF3 reported by GeneDx

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Gene type:
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_004698.4(PRPF3):c.277-52= rs834225 0.61084
NM_004698.4(PRPF3):c.729-136= rs1260408 0.60684
NM_004698.4(PRPF3):c.728+193= rs1260406 0.32731
NM_004698.4(PRPF3):c.1844-147G>A rs1625468 0.29424
NM_004698.4(PRPF3):c.1283-61A>T rs56047090 0.23769
NM_004698.4(PRPF3):c.1843+114T>A rs16836143 0.22257
NM_004698.4(PRPF3):c.146-194C>T rs34964511 0.11685
NM_004698.4(PRPF3):c.146-17G>A rs11205362 0.08382
NM_004698.4(PRPF3):c.1906-78A>G rs41300865 0.08378
NM_004698.4(PRPF3):c.1283-25_1288dup rs372916275 0.08079
NM_004698.4(PRPF3):c.-48-116C>A rs35437473 0.08015
NM_004698.4(PRPF3):c.-48-108T>C rs60758881 0.04911
NM_004698.4(PRPF3):c.1905+104T>G rs3737319 0.04773
NM_004698.4(PRPF3):c.1641-125G>A rs16836139 0.04772
NM_004698.4(PRPF3):c.1760-12C>T rs116427288 0.02182
NM_004698.4(PRPF3):c.1923G>A (p.Arg641=) rs79516325 0.02181
NM_004698.4(PRPF3):c.*42C>T rs77626125 0.02035
NM_004698.4(PRPF3):c.949A>C (p.Ile317Leu) rs1246574143 0.00001
NM_004698.4(PRPF3):c.-48-5_-48-3dup rs75011188
NM_004698.4(PRPF3):c.1036-85= rs34911220
NM_004698.4(PRPF3):c.1202+173= rs1266003723
NM_004698.4(PRPF3):c.1202+25A>C rs11806171
NM_004698.4(PRPF3):c.1227_1228delinsTT (p.Glu409_Asp410delinsAspTyr) rs2525186967
NM_004698.4(PRPF3):c.1283-60AT[7] rs66790680
NM_004698.4(PRPF3):c.1283-60AT[8] rs66790680
NM_004698.4(PRPF3):c.1283-60_1283-56del rs1351461747
NM_004698.4(PRPF3):c.1283-60del rs201623637
NM_004698.4(PRPF3):c.1283-61_1283-58del rs782085392
NM_004698.4(PRPF3):c.1283-61_1283-60del rs201623637
NM_004698.4(PRPF3):c.1283-62_1283-56del rs1438395592
NM_004698.4(PRPF3):c.1283-62_1283-58del rs56860451
NM_004698.4(PRPF3):c.1283-63_1283-58del rs1396136865
NM_004698.4(PRPF3):c.1283-64_1283-58del rs58514816
NM_004698.4(PRPF3):c.1477C>T (p.Pro493Ser) rs121434242
NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met) rs121434241
NM_004698.4(PRPF3):c.1640+227del rs5777721
NM_004698.4(PRPF3):c.423+101_423+103dup rs34437719
NM_004698.4(PRPF3):c.423+102_423+103dup rs34437719
NM_004698.4(PRPF3):c.588G>A (p.Met196Ile)
NM_004698.4(PRPF3):c.590A>T (p.Asn197Ile)
NM_004698.4(PRPF3):c.922A>C (p.Asn308His) rs2525136357
NM_004698.4(PRPF3):c.953C>T (p.Ala318Val) rs781915422

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