List of variants in gene PRPF31 reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_015629.4(PRPF31):c.420+7G>A	rs143717956	0.00723
NM_015629.4(PRPF31):c.*7G>A	rs183791126	0.00096
NM_015629.4(PRPF31):c.194T>A (p.Met65Lys)	rs145505952	0.00044
NM_015629.4(PRPF31):c.138T>C (p.Asp46=)	rs76251057	0.00011
NM_015629.4(PRPF31):c.594C>T (p.Asn198=)	rs138269127	0.00008
NM_015629.4(PRPF31):c.684C>T (p.Ala228=)	rs181492006	0.00006
NM_015629.4(PRPF31):c.1073+9C>T	rs758509934	0.00005
NM_015629.4(PRPF31):c.552G>A (p.Leu184=)	rs902979771	0.00005
NM_015629.4(PRPF31):c.708C>T (p.Gly236=)	rs370829672	0.00004
NM_015629.4(PRPF31):c.655C>A (p.Leu219Met)	rs763882898	0.00003
NM_015629.4(PRPF31):c.954C>T (p.Tyr318=)	rs376067058	0.00003
NM_015629.4(PRPF31):c.1268C>T (p.Thr423Met)	rs753277924	0.00002
NM_015629.4(PRPF31):c.889G>A (p.Ala297Thr)	rs762463081	0.00002
NM_015629.4(PRPF31):c.93G>A (p.Ala31=)	rs921655639	0.00002
NM_015629.4(PRPF31):c.178-8T>C	rs587752996	0.00001
NM_015629.4(PRPF31):c.660C>T (p.Ser220=)	rs1463514560	0.00001
NM_015629.4(PRPF31):c.1029G>A (p.Leu343=)
NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter)	rs868538598
NM_015629.4(PRPF31):c.1263dup (p.Lys422fs)	rs2516206637
NM_015629.4(PRPF31):c.359dup (p.Arg121fs)	rs1555792415
NM_015629.4(PRPF31):c.528-10G>A	rs368797093
NM_015629.4(PRPF31):c.582G>A (p.Ala194=)	rs757374570
NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg)	rs2073926924

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