ClinVar Miner

List of variants in gene PRPF31 reported as benign by Labcorp Genetics (formerly Invitae), Labcorp

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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_015629.4(PRPF31):c.735C>T (p.Pro245=) rs11556769 0.08507
NM_015629.4(PRPF31):c.1467C>T (p.Val489=) rs62144168 0.08162
NM_015629.4(PRPF31):c.564G>A (p.Glu188=) rs1058572 0.02280
NM_015629.4(PRPF31):c.239-13C>T rs113691122 0.02250
NM_015629.4(PRPF31):c.1230A>G (p.Thr410=) rs34154455 0.01460
NM_015629.4(PRPF31):c.1302A>G (p.Val434=) rs35230170 0.01449
NM_015629.4(PRPF31):c.1416G>A (p.Val472=) rs145958840 0.00763
NM_015629.4(PRPF31):c.420+7G>A rs143717956 0.00723
NM_015629.4(PRPF31):c.915G>A (p.Val305=) rs140370948 0.00159
NM_015629.4(PRPF31):c.322+20C>T rs200191339 0.00072
NM_015629.4(PRPF31):c.1098G>C (p.Leu366=) rs201201131 0.00044
NM_015629.4(PRPF31):c.540G>A (p.Ser180=) rs148941732 0.00035
NM_015629.4(PRPF31):c.946-12C>T rs372556278 0.00031
NM_015629.4(PRPF31):c.239-12G>A rs377086372 0.00025
NM_015629.4(PRPF31):c.705C>T (p.Ala235=) rs587627263 0.00024
NM_015629.4(PRPF31):c.1073+5G>A rs759589041 0.00018
NM_015629.4(PRPF31):c.1320C>T (p.Thr440=) rs117456605 0.00012
NM_015629.4(PRPF31):c.138T>C (p.Asp46=) rs76251057 0.00011
NM_015629.4(PRPF31):c.1147-18G>A rs774467725 0.00004
NM_015629.4(PRPF31):c.1122G>A (p.Gln374=) rs750724844 0.00001
NM_015629.4(PRPF31):c.1074-16A>C rs1479413763
NM_015629.4(PRPF31):c.1147-4dup rs112173452
NM_015629.4(PRPF31):c.1147-6C>G rs587693564
NM_015629.4(PRPF31):c.1147-9= rs655240
NM_015629.4(PRPF31):c.1461C>G (p.Leu487=) rs148353051
NM_015629.4(PRPF31):c.527+9G>T rs376994481
NM_015629.4(PRPF31):c.945+8G>A rs201109588
NM_015629.4(PRPF31):c.946-14dup rs1455934673

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