List of variants in gene RPGR reported as pathogenic by Mendelics

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001034853.2(RPGR):c.2023G>T (p.Glu675Ter)	rs1601924184
NM_001034853.2(RPGR):c.2185G>T (p.Glu729Ter)	rs1601923813
NM_001034853.2(RPGR):c.2218G>T (p.Glu740Ter)	rs983693027
NM_001034853.2(RPGR):c.2470G>T (p.Gly824Ter)	rs2147197584
NM_001034853.2(RPGR):c.248-2A>G	rs62638633
NM_001034853.2(RPGR):c.2522_2525dup (p.Glu843fs)	rs2147197113
NM_001034853.2(RPGR):c.2522del (p.Glu841fs)	rs1601922202
NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs)	rs606231181
NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs)	rs1601917999
NM_001034853.2(RPGR):c.310G>T (p.Glu104Ter)	rs1601978823
NM_001034853.2(RPGR):c.3184G>T (p.Glu1062Ter)	rs2147190626
NM_001034853.2(RPGR):c.389_390del (p.Phe130fs)	rs1601974881
NM_001034853.2(RPGR):c.749G>A (p.Cys250Tyr)	rs1601961064
NM_001034853.2(RPGR):c.957del (p.Phe319fs)	rs1601947074

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