List of variants in gene RGR studied for Retinal dystrophy

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001012720.2(RGR):c.27T>C (p.Thr9=)	rs2279227	0.62051
NM_001012720.2(RGR):c.459C>T (p.Tyr153=)	rs1042454	0.50840
NM_001012720.2(RGR):c.19C>T (p.Leu7=)	rs11200938	0.06594
NM_001012720.2(RGR):c.722C>T (p.Ser241Phe)	rs61730895	0.03728
NM_001012720.2(RGR):c.110C>T (p.Thr37Ile)	rs774849552	0.00010
NM_001012720.2(RGR):c.666C>T (p.Leu222=)	rs575867273	0.00010
NM_001012720.2(RGR):c.*74dup	rs1554824273
NM_001012720.2(RGR):c.108G>A (p.Leu36=)
NM_001012720.2(RGR):c.135G>A (p.Pro45=)
NM_001012720.2(RGR):c.392T>C (p.Leu131Pro)
NM_001012720.2(RGR):c.488C>T (p.Thr163Ile)
NM_001012720.2(RGR):c.5C>T (p.Ala2Val)
NM_001012720.2(RGR):c.621C>G (p.Gly207=)
NM_001012720.2(RGR):c.685A>G (p.Ile229Val)
NM_001012720.2(RGR):c.766A>G (p.Met256Val)
NM_001012720.2(RGR):c.777G>T (p.Thr259=)

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