ClinVar Miner

List of variants in gene RPGR reported as benign for Primary ciliary dyskinesia

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Total variants: 81
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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 0.13486
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 0.11576
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu) rs1801688 0.09526
NM_001034853.2(RPGR):c.1572+11A>G rs62635008 0.09370
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys) rs1801687 0.09261
NM_001034853.2(RPGR):c.2223G>A (p.Glu741=) rs147619484 0.08857
NM_001034853.2(RPGR):c.3430G>A (p.Val1144Ile) rs12688514 0.07772
NM_001034853.2(RPGR):c.3264G>A (p.Val1088=) rs78736275 0.06433
NM_001034853.2(RPGR):c.3219C>T (p.Gly1073=) rs111787313 0.06277
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.3231T>A (p.Asn1077Lys) rs62636730 0.02044
NM_001034853.2(RPGR):c.552G>T (p.Gln184His) rs5963403 0.02007
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met) rs41312104 0.01885
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 0.00714
NM_001034853.2(RPGR):c.1296A>T (p.Glu432Asp) rs28718831 0.00670
NM_001034853.2(RPGR):c.3407G>A (p.Gly1136Asp) rs150960964 0.00656
NM_001034853.2(RPGR):c.778+13T>A rs199625400 0.00629
NM_001034853.2(RPGR):c.905G>C (p.Cys302Ser) rs62640590 0.00361
NM_001034853.2(RPGR):c.732G>A (p.Lys244=) rs62638654 0.00188
NM_000328.3(RPGR):c.2324T>C (p.Ile775Thr) rs145289281 0.00087
NM_001034853.2(RPGR):c.3371T>A (p.Val1124Asp) rs201671932 0.00086
NM_001034853.2(RPGR):c.1240G>C (p.Glu414Gln) rs150549982 0.00048
NM_001034853.2(RPGR):c.222C>T (p.Ala74=) rs143521661 0.00046
NM_001034853.2(RPGR):c.1399C>A (p.Gln467Lys) rs774321455 0.00044
NM_001034853.2(RPGR):c.154+14T>C rs200069705 0.00038
NM_001034853.2(RPGR):c.1059+6G>A rs377731326 0.00037
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.30T>A (p.Asp10Glu) rs202156474 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.153C>T (p.Thr51=) rs201242851 0.00031
NM_001034853.2(RPGR):c.1721C>T (p.Thr574Met) rs202013664 0.00025
NM_001034853.2(RPGR):c.2729G>A (p.Gly910Glu) rs749762268 0.00021
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.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 0.00013
NM_000328.3(RPGR):c.2267C>T (p.Ser756Leu) rs766828733 0.00012
NM_001034853.2(RPGR):c.1415-17C>G rs191692201 0.00011
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 0.00007
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.1708A>G (p.Thr570Ala) rs768169831 0.00003
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_001034853.2(RPGR):c.1145A>T (p.Asp382Val) rs757714144 0.00002
NM_001034853.2(RPGR):c.3293G>A (p.Gly1098Asp) rs764205212 0.00002
NC_000023.11:g.38276710A>C rs1007967007 0.00001
NM_001034853.2(RPGR):c.1575A>G (p.Lys525=) rs761895475 0.00001
NM_001034853.2(RPGR):c.444A>T (p.Gly148=) rs752286330 0.00001
NM_000328.3(RPGR):c.1906-8del rs2519758114
NM_000328.3(RPGR):c.2146A>G (p.Lys716Glu) rs771791722
NM_000328.3(RPGR):c.2242-6dup rs772487554
NM_001034853.2(RPGR):c.1105C>T (p.Arg369Cys) rs768571911
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.2946_2951del (p.Glu984_Glu985del) rs767210576
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

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