List of variants in gene RPGR reported as uncertain significance by Blueprint Genetics

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: 24

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HGVS	dbSNP	gnomAD frequency
NM_001034853.2(RPGR):c.827T>G (p.Leu276Arg)	rs771616566	0.00002
NM_001034853.2(RPGR):c.1754-9G>A	rs762495217	0.00001
NM_001034853.2(RPGR):c.2417A>G (p.Glu806Gly)	rs1364555173	0.00001
NM_001034853.2(RPGR):c.1753G>A (p.Glu585Lys)	rs2067215010
NM_001034853.2(RPGR):c.1754-2dup	rs2067203496
NM_001034853.2(RPGR):c.198G>C (p.Gln66His)	rs2067975683
NM_001034853.2(RPGR):c.200TAGGAT[1] (p.67LG[1])	rs2067975228
NM_001034853.2(RPGR):c.203G>T (p.Gly68Val)	rs2067975335
NM_001034853.2(RPGR):c.2360_2362del (p.Gly787del)	rs1287687440
NM_001034853.2(RPGR):c.247+5G>A	rs2067974156
NM_001034853.2(RPGR):c.247G>A (p.Ala83Thr)	rs2067974263
NM_001034853.2(RPGR):c.2697AGGAGAAGGGGAGGGAGAAGAGGA[3] (p.900GEGEGEEE[3])	rs757402645
NM_001034853.2(RPGR):c.2761G>C (p.Gly921Arg)	rs2067157510
NM_001034853.2(RPGR):c.2821G>T (p.Gly941Trp)	rs763102799
NM_001034853.2(RPGR):c.2930G>T (p.Gly977Val)	rs1234506102
NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro)	rs1064797366
NM_001034853.2(RPGR):c.310+7T>G	rs2067929126
NM_001034853.2(RPGR):c.322_324del (p.Val108del)	rs2067878524
NM_001034853.2(RPGR):c.362T>G (p.Leu121Arg)	rs2067878147
NM_001034853.2(RPGR):c.443G>A (p.Gly148Glu)	rs2067875982
NM_001034853.2(RPGR):c.484_486del (p.Phe162del)	rs281865297
NM_001034853.2(RPGR):c.493G>C (p.Gly165Arg)	rs2067847091
NM_001034853.2(RPGR):c.619+4A>G	rs2067844549
NM_001034853.2(RPGR):c.778+3A>T	rs1218824822

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