List of variants in gene RPGR reported as pathogenic by Molecular Genetics Laboratory, Institute for Ophthalmic Research

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 36

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HGVS	dbSNP	gnomAD frequency
NM_001034853.2(RPGR):c.1217dup (p.Ser407fs)	rs1601943325
NM_001034853.2(RPGR):c.133G>T (p.Glu45Ter)	rs1555968524
NM_001034853.2(RPGR):c.154+1G>A	rs2067985165
NM_001034853.2(RPGR):c.1754-15_1754-5del	rs2067203546
NM_001034853.2(RPGR):c.1966dup (p.Asp656fs)	rs2067198376
NM_001034853.2(RPGR):c.2038_2056del (p.Asp680fs)	rs1601924111
NM_001034853.2(RPGR):c.2059dup (p.Glu687fs)	rs2067194747
NM_001034853.2(RPGR):c.2083G>T (p.Glu695Ter)	rs2067193671
NM_001034853.2(RPGR):c.2123A>G (p.Glu708Gly)	rs2067192032
NM_001034853.2(RPGR):c.2143_2144del (p.Arg715fs)	rs2067191541
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs)	rs1555961852
NM_001034853.2(RPGR):c.2321_2348del (p.Glu774fs)	rs2067185063
NM_001034853.2(RPGR):c.2346del (p.Lys783fs)	rs1064797365
NM_001034853.2(RPGR):c.2410A>T (p.Arg804Ter)	rs1601922877
NM_001034853.2(RPGR):c.2416G>T (p.Glu806Ter)	rs1555961787
NM_001034853.2(RPGR):c.2447del (p.Gly816fs)	rs1854473658
NM_001034853.2(RPGR):c.2461G>T (p.Glu821Ter)	rs2067180233
NM_001034853.2(RPGR):c.2527dup (p.Glu843fs)	rs2067175855
NM_001034853.2(RPGR):c.255del (p.Lys85fs)	rs1555968248
NM_001034853.2(RPGR):c.2605G>T (p.Glu869Ter)	rs1555961677
NM_001034853.2(RPGR):c.2622_3056del (p.Gly876_Glu1020del)	rs2067126569
NM_001034853.2(RPGR):c.2647G>T (p.Gly883Ter)	rs1555961624
NM_001034853.2(RPGR):c.2735del (p.Gly912fs)	rs2067159265
NM_001034853.2(RPGR):c.2887del (p.Glu963fs)	rs1064797364
NM_001034853.2(RPGR):c.2899dup (p.Glu967fs)	rs1569235999
NM_001034853.2(RPGR):c.29-1G>T	rs2067987832
NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro)	rs1064797366
NM_001034853.2(RPGR):c.3049G>T (p.Glu1017Ter)	rs2067127275
NM_001034853.2(RPGR):c.3077_3080del (p.Glu1026fs)	rs2067124487
NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs)	rs1601917999
NM_001034853.2(RPGR):c.3175del (p.Arg1059fs)	rs2067117666
NM_001034853.2(RPGR):c.3373C>T (p.Gln1125Ter)	rs1601917052
NM_001034853.2(RPGR):c.389T>C (p.Phe130Ser)	rs62638644
NM_001034853.2(RPGR):c.602A>T (p.His201Leu)	rs2067845149
NM_001034853.2(RPGR):c.907G>T (p.Gly303Ter)	rs2067562201
NM_001034853.2(RPGR):c.935-1G>T	rs2067498051

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