List of variants in gene RPGR reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001034853.2(RPGR):c.1608A>T (p.Thr536=)	rs145089607	0.00012
NM_001034853.2(RPGR):c.1671del (p.Ala558fs)	rs1569238659
NM_001034853.2(RPGR):c.1796dup (p.Asn599fs)	rs2147200895
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs)	rs1555961852
NM_001034853.2(RPGR):c.2384del (p.Glu795fs)	rs1569237206
NM_001034853.2(RPGR):c.248-28_248-10del	rs1569260656
NM_001034853.2(RPGR):c.2947G>T (p.Glu983Ter)	rs1569235803
NM_001034853.2(RPGR):c.2993_2996del (p.Glu998fs)	rs1569235677
NM_001034853.2(RPGR):c.3150_3151del (p.Glu1051fs)	rs2147190794
NM_001034853.2(RPGR):c.3212_3218del (p.Glu1071fs)	rs2147190470
NM_001034853.2(RPGR):c.3317dup (p.Ser1107fs)	rs886041376
NM_001034853.2(RPGR):c.423del (p.Ile142fs)	rs1569258901
NM_001034853.2(RPGR):c.485_486del (p.Phe162fs)	rs281865297

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