List of variants in gene RGR reported as uncertain significance for Retinitis pigmentosa

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: 27

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HGVS	dbSNP	gnomAD frequency
NM_001012720.2(RGR):c.744+5A>G	rs143720091	0.00334
NM_001012720.2(RGR):c.*331C>A	rs563165735	0.00113
NM_001012720.2(RGR):c.318T>C (p.Ser106=)	rs143761967	0.00093
NM_001012720.2(RGR):c.454C>A (p.His152Asn)	rs150808273	0.00081
NM_001012720.2(RGR):c.493G>T (p.Asp165Tyr)	rs149516779	0.00081
NM_001012720.2(RGR):c.229C>T (p.Leu77Phe)	rs146536539	0.00044
NM_001012720.2(RGR):c.*200C>T	rs764175932	0.00022
NM_001012720.2(RGR):c.385G>A (p.Val129Ile)	rs138630905	0.00019
NM_001012720.2(RGR):c.666C>T (p.Leu222=)	rs575867273	0.00010
NM_001012720.2(RGR):c.-17A>G	rs377314145	0.00008
NM_001012720.2(RGR):c.745-13T>C	rs760426665	0.00007
NM_001012720.2(RGR):c.259G>A (p.Gly87Ser)	rs369457258	0.00004
NM_001012720.2(RGR):c.630+2T>A	rs775282095	0.00004
NM_001012720.2(RGR):c.*220C>G	rs886047352	0.00003
NM_001012720.2(RGR):c.460G>A (p.Asp154Asn)	rs750768609	0.00003
NM_001012720.2(RGR):c.612G>A (p.Gly204=)	rs749839913	0.00003
NM_001012720.2(RGR):c.700G>A (p.Ala234Thr)	rs377043137	0.00003
NM_001012720.2(RGR):c.866G>A (p.Arg289Gln)	rs768395760	0.00002
NM_001012720.2(RGR):c.*484T>C	rs886047353	0.00001
NM_001012720.2(RGR):c.*89C>T	rs1182311979	0.00001
NM_001012720.2(RGR):c.512+8G>A	rs777466420	0.00001
NM_001012720.2(RGR):c.*386C>T	rs1842923502
NM_001012720.2(RGR):c.*494G>C	rs546408776
NM_001012720.2(RGR):c.*514T>C	rs1589338150
NM_001012720.2(RGR):c.358+1G>A	rs548051515
NM_001012720.2(RGR):c.359-15C>A	rs373630058
NM_001012720.2(RGR):c.750C>A (p.Pro250=)	rs748553756

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