List of variants in gene RPGR reported as pathogenic by OMIM

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: 25

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HGVS	dbSNP	gnomAD frequency
NM_001034853.2(RPGR):c.1059+363G>A	rs1410177435	0.00010
NG_009553.1:g.(46900_53331)_53439del
NM_001034853.2(RPGR):c.1245+3A>G	rs62635002
NM_001034853.2(RPGR):c.1402_1405del (p.Pro468fs)	rs62653030
NM_001034853.2(RPGR):c.1512_1513del (p.Ile505fs)	rs281865304
NM_001034853.2(RPGR):c.179G>T (p.Gly60Val)	rs62638634
NM_001034853.2(RPGR):c.1926dup (p.Ser643fs)	rs2067199347
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs)	rs398122960
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs)	rs730882261
NM_001034853.2(RPGR):c.2432GAGGGGAAGTAGAGG[1] (p.811GGEVE[1])	rs777850798
NM_001034853.2(RPGR):c.2650G>T (p.Glu884Ter)	rs137852549
NM_001034853.2(RPGR):c.2665G>T (p.Glu889Ter)	rs2067163605
NM_001034853.2(RPGR):c.2847_2848inv (p.Glu949_Glu950delinsAspTer)
NM_001034853.2(RPGR):c.2917G>T (p.Glu973Ter)	rs2067140471
NM_001034853.2(RPGR):c.2929G>T (p.Gly977Ter)	rs137852551
NM_001034853.2(RPGR):c.296C>A (p.Thr99Asn)	rs62638637
NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs)	rs606231181
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs)	rs606231180
NM_001034853.2(RPGR):c.389T>G (p.Phe130Cys)	rs62638644
NM_001034853.2(RPGR):c.469+1G>T	rs62638646
NM_001034853.2(RPGR):c.517G>C (p.Gly173Arg)	rs137852550
NM_001034853.2(RPGR):c.572_619+9del
NM_001034853.2(RPGR):c.703C>T (p.Pro235Ser)	rs62638651
NM_001034853.2(RPGR):c.789_790del (p.Thr265fs)	rs2147248070
NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser)	rs62642057

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