List of variants in gene RPGR reported as likely pathogenic by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001034853.2(RPGR):c.778+5G>A	rs62640583	0.00001
NM_001034853.2(RPGR):c.1754-2dup	rs2067203496
NM_001034853.2(RPGR):c.178G>T (p.Gly60Cys)
NM_001034853.2(RPGR):c.2268del (p.Glu757fs)
NM_001034853.2(RPGR):c.2452G>T (p.Glu818Ter)	rs2147197770
NM_001034853.2(RPGR):c.247+5G>A	rs2067974156
NM_001034853.2(RPGR):c.2635del (p.Glu879fs)
NM_001034853.2(RPGR):c.284G>A (p.Gly95Glu)
NM_001034853.2(RPGR):c.2983_2986dup (p.Glu996fs)
NM_001034853.2(RPGR):c.311-21_311-9delinsG
NM_001034853.2(RPGR):c.353A>G (p.Gln118Arg)
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly)	rs62638643
NM_001034853.2(RPGR):c.492G>T (p.Trp164Cys)	rs62638648
NM_001034853.2(RPGR):c.593G>A (p.Gly198Glu)
NM_001034853.2(RPGR):c.613del (p.Phe204_Val205insTer)
NM_001034853.2:c.(310+1_311-1)_(1414+1_1415-1)dup

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