ClinVar Miner

List of variants in gene RPGR studied for Primary ciliary dyskinesia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
Download table as spreadsheet
HGVS dbSNP
NM_000328.2(RPGR):c.-168-?_*456+?dup
NM_000328.3(RPGR):c.1033A>G (p.Asn345Asp) rs41305223
NM_000328.3(RPGR):c.1059+6G>A rs377731326
NM_000328.3(RPGR):c.1099C>G (p.Pro367Ala) rs769641256
NM_000328.3(RPGR):c.1240G>C (p.Glu414Gln) rs150549982
NM_000328.3(RPGR):c.1245+6A>G rs886038281
NM_000328.3(RPGR):c.1296A>T (p.Glu432Asp) rs28718831
NM_000328.3(RPGR):c.1366C>T (p.Gln456Ter) rs1060501181
NM_000328.3(RPGR):c.1367A>G (p.Gln456Arg) rs144635565
NM_000328.3(RPGR):c.1398G>A (p.Met466Ile)
NM_000328.3(RPGR):c.1399C>A (p.Gln467Lys) rs774321455
NM_000328.3(RPGR):c.141T>G (p.Ser47=) rs62638631
NM_000328.3(RPGR):c.153C>T (p.Thr51=) rs201242851
NM_000328.3(RPGR):c.155-10C>T rs757403373
NM_000328.3(RPGR):c.1576_1578CAA[1] (p.Gln527del) rs62653033
NM_000328.3(RPGR):c.1598C>T (p.Thr533Met) rs41312104
NM_000328.3(RPGR):c.1624G>A (p.Asp542Asn)
NM_000328.3(RPGR):c.1630A>G (p.Ser544Gly) rs878853953
NM_000328.3(RPGR):c.1680_1682ACA[1] (p.Gln561del) rs1208778002
NM_000328.3(RPGR):c.1708A>G (p.Thr570Ala) rs768169831
NM_000328.3(RPGR):c.1710G>A (p.Thr570=) rs138347728
NM_000328.3(RPGR):c.1749A>G (p.Glu583=) rs1060501179
NM_000328.3(RPGR):c.1754-10C>G rs368767915
NM_000328.3(RPGR):c.179G>T (p.Gly60Val) rs62638634
NM_000328.3(RPGR):c.1826A>G (p.Asn609Ser) rs1555961989
NM_000328.3(RPGR):c.1905+1041_1905+1046del rs767210576
NM_000328.3(RPGR):c.1905+542_1905+556del rs777850798
NM_000328.3(RPGR):c.1905+594T>G rs752979508
NM_000328.3(RPGR):c.1905+636_1905+656del rs751710678
NM_000328.3(RPGR):c.1905+701_1905+715del rs200824587
NM_000328.3(RPGR):c.1909C>G (p.His637Asp)
NM_000328.3(RPGR):c.1935A>G (p.Leu645=) rs781266050
NM_000328.3(RPGR):c.2133C>T (p.Tyr711=) rs779998371
NM_000328.3(RPGR):c.2146A>G (p.Lys716Glu) rs771791722
NM_000328.3(RPGR):c.222C>T (p.Ala74=) rs143521661
NM_000328.3(RPGR):c.223A>G (p.Ile75Val) rs111631988
NM_000328.3(RPGR):c.2242-8T>C rs112368541
NM_000328.3(RPGR):c.2302C>A (p.Pro768Thr) rs34117835
NM_000328.3(RPGR):c.2323A>G (p.Ile775Val) rs147649203
NM_000328.3(RPGR):c.2365G>A (p.Asp789Asn) rs113968324
NM_000328.3(RPGR):c.452C>T (p.Thr151Ile) rs1060501180
NM_000328.3(RPGR):c.552G>T (p.Gln184His) rs5963403
NM_000328.3(RPGR):c.603T>C (p.His201=) rs765580620
NM_000328.3(RPGR):c.732G>A (p.Lys244=) rs62638654
NM_000328.3(RPGR):c.752G>A (p.Gly251Asp) rs1555966699
NM_000328.3(RPGR):c.858C>T (p.Pro286=) rs1387222365
NM_000328.3(RPGR):c.865A>G (p.Ile289Val) rs62640587

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.