List of variants in gene RPGR reported as benign by Invitae

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: 79

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HGVS	dbSNP	gnomAD frequency
NM_001034853.2(RPGR):c.29-15G>A	rs6651585	0.21451
NM_000328.3(RPGR):c.2241+11T>C	rs4084271	0.20121
NM_001034853.2(RPGR):c.1245+16A>G	rs5918522	0.13807
NM_001034853.2(RPGR):c.2341G>A (p.Ala781Thr)	rs5917557	0.13157
NM_001034853.2(RPGR):c.3396C>T (p.Asn1132=)	rs12687163	0.12023
NM_001034853.2(RPGR):c.1164G>A (p.Ala388=)	rs1801686	0.11812
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu)	rs1801688	0.09526
NM_001034853.2(RPGR):c.1572+11A>G	rs62635008	0.09352
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys)	rs1801687	0.09261
NM_001034853.2(RPGR):c.2223G>A (p.Glu741=)	rs147619484	0.08849
NM_001034853.2(RPGR):c.3430G>A (p.Val1144Ile)	rs12688514	0.07772
NM_001034853.2(RPGR):c.3219C>T (p.Gly1073=)	rs111787313	0.06277
NM_001034853.2(RPGR):c.3264G>A (p.Val1088=)	rs78736275	0.06219
NM_001034853.2(RPGR):c.1291A>G (p.Ile431Val)	rs62635003	0.05955
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val)	rs111631988	0.03363
NM_000328.3(RPGR):c.2302C>A (p.Pro768Thr)	rs34117835	0.02675
NM_001034853.2(RPGR):c.552G>T (p.Gln184His)	rs5963403	0.02128
NM_001034853.2(RPGR):c.3231T>A (p.Asn1077Lys)	rs62636730	0.02044
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met)	rs41312104	0.02014
NM_000328.3(RPGR):c.2242-8T>C	rs112368541	0.01109
NM_001034853.2(RPGR):c.2808A>T (p.Glu936Asp)	rs187844918	0.01026
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg)	rs144635565	0.00806
NM_001034853.2(RPGR):c.2057T>A (p.Met686Lys)	rs151247357	0.00794
NM_001034853.2(RPGR):c.1033A>G (p.Asn345Asp)	rs41305223	0.00731
NM_001034853.2(RPGR):c.1296A>T (p.Glu432Asp)	rs28718831	0.00730
NM_001034853.2(RPGR):c.3407G>A (p.Gly1136Asp)	rs150960964	0.00656
NM_001034853.2(RPGR):c.778+13T>A	rs199625400	0.00624
NM_001034853.2(RPGR):c.905G>C (p.Cys302Ser)	rs62640590	0.00361
NM_001034853.2(RPGR):c.732G>A (p.Lys244=)	rs62638654	0.00191
NM_000328.3(RPGR):c.2324T>C (p.Ile775Thr)	rs145289281	0.00087
NM_001034853.2(RPGR):c.1240G>C (p.Glu414Gln)	rs150549982	0.00046
NM_001034853.2(RPGR):c.1399C>A (p.Gln467Lys)	rs774321455	0.00046
NM_001034853.2(RPGR):c.222C>T (p.Ala74=)	rs143521661	0.00045
NM_001034853.2(RPGR):c.154+14T>C	rs200069705	0.00040
NM_001034853.2(RPGR):c.30T>A (p.Asp10Glu)	rs202156474	0.00037
NM_001034853.2(RPGR):c.1059+6G>A	rs377731326	0.00035
NM_001034853.2(RPGR):c.785C>G (p.Ala262Gly)	rs138018739	0.00035
NM_001034853.2(RPGR):c.141T>G (p.Ser47=)	rs62638631	0.00034
NM_001034853.2(RPGR):c.153C>T (p.Thr51=)	rs201242851	0.00033
NM_000328.3(RPGR):c.2323A>G (p.Ile775Val)	rs147649203	0.00032
NM_000328.3(RPGR):c.1906G>T (p.Asp636Tyr)	rs770101727	0.00031
NM_001034853.2(RPGR):c.1721C>T (p.Thr574Met)	rs202013664	0.00027
NM_000328.3(RPGR):c.2365G>A (p.Asp789Asn)	rs113968324	0.00020
NM_001034853.2(RPGR):c.1754-10C>G	rs368767915	0.00018
NM_001034853.2(RPGR):c.2729G>A (p.Gly910Glu)	rs749762268	0.00016
NM_001034853.2(RPGR):c.394G>A (p.Val132Ile)	rs768274240	0.00016
NM_001034853.2(RPGR):c.1710G>A (p.Thr570=)	rs138347728	0.00015
NM_001034853.2(RPGR):c.310+10T>C	rs373028441	0.00015
NM_001034853.2(RPGR):c.1176G>C (p.Pro392=)	rs149742786	0.00014
NM_001034853.2(RPGR):c.1608A>T (p.Thr536=)	rs145089607	0.00012
NM_001034853.2(RPGR):c.1163C>T (p.Ala388Val)	rs199661899	0.00010
NM_001034853.2(RPGR):c.3402A>C (p.Pro1134=)	rs199602213	0.00010
NM_001034853.2(RPGR):c.1098T>C (p.Ala366=)	rs369391462	0.00008
NM_001034853.2(RPGR):c.619+6A>G	rs760782164	0.00008
NM_001034853.2(RPGR):c.1145A>T (p.Asp382Val)	rs757714144	0.00005
NM_001034853.2(RPGR):c.415G>A (p.Glu139Lys)	rs62638645	0.00005
NM_001034853.2(RPGR):c.865A>G (p.Ile289Val)	rs62640587	0.00005
NM_001034853.2(RPGR):c.1728C>T (p.Ile576=)	rs145682975	0.00003
NM_000328.3(RPGR):c.1935A>G (p.Leu645=)	rs781266050	0.00002
NM_000328.3(RPGR):c.1968T>G (p.Ala656=)	rs1007967007	0.00002
NM_001034853.2(RPGR):c.1575A>G (p.Lys525=)	rs761895475	0.00001
NM_000328.3(RPGR):c.1906-8del
NM_000328.3(RPGR):c.2146A>G (p.Lys716Glu)	rs771791722
NM_000328.3(RPGR):c.2242-6dup
NM_000328.3(RPGR):c.2267C>T (p.Ser756Leu)	rs766828733
NM_001034853.2(RPGR):c.1105C>T (p.Arg369Cys)	rs768571911
NM_001034853.2(RPGR):c.1415-17C>G
NM_001034853.2(RPGR):c.1507-12del	rs759448363
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del)	rs62653033
NM_001034853.2(RPGR):c.2331GGA[1] (p.Glu779del)	rs201730068
NM_001034853.2(RPGR):c.2520GGAGGGGGAAGAGGAGGAAGG[1] (p.829EEEEGEG[3])	rs751710678
NM_001034853.2(RPGR):c.2667_2669del (p.Glu890del)	rs199663434
NM_001034853.2(RPGR):c.2820_2840dup (p.Asp943_Glu949dup)	rs764268405
NM_001034853.2(RPGR):c.3060_3071del (p.1021_1024VEGE[1])	rs199896738
NM_001034853.2(RPGR):c.3062TGGAAGGGGAGG[1] (p.1021VEGE[1])	rs201134185
NM_001034853.2(RPGR):c.3116_3118del (p.Gly1039del)	rs200211905
NM_001034853.2(RPGR):c.3293G>A (p.Gly1098Asp)
NM_001034853.2(RPGR):c.3371T>A (p.Val1124Asp)
NM_001034853.2(RPGR):c.444A>T (p.Gly148=)

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