ClinVar Miner

List of variants in gene AIPL1 reported as pathogenic for inherited retinal dystrophy

Included ClinVar conditions (417):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00037
NM_014336.5(AIPL1):c.277-2A>G rs140808549 0.00009
NM_014336.5(AIPL1):c.377T>A (p.Met126Lys) rs761622978 0.00007
NM_014336.5(AIPL1):c.784G>A (p.Gly262Ser) rs142326926 0.00005
NM_014336.5(AIPL1):c.94C>T (p.Arg32Ter) rs139305531 0.00002
NM_014336.5(AIPL1):c.265T>C (p.Cys89Arg) rs1264794214 0.00001
NM_014336.5(AIPL1):c.276+1G>A rs150097891 0.00001
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg) rs201883601 0.00001
NM_014336.5(AIPL1):c.421C>T (p.Gln141Ter) rs200125117 0.00001
NM_014336.5(AIPL1):c.465G>T (p.Gln155His) rs758001091 0.00001
NM_014336.5(AIPL1):c.645G>A (p.Glu215=) rs1297434866 0.00001
NM_014336.5(AIPL1):c.97_104dup (p.Phe35delinsLeuTer) rs776129172 0.00001
NC_000017.10:g.(?_6331618)_(6338424_?)del
NC_000017.10:g.(?_6337219)_(6337438_?)del
NC_000017.10:g.(?_6338309)_(6338424_?)del
NC_000017.11:g.6436899del rs1913249761
NM_001285403.4(AIPL1):c.466-24_466-21del rs1362798167
NM_014336.5(AIPL1):c.1010_1011del (p.Glu337fs) rs62637016
NM_014336.5(AIPL1):c.104_105insG (p.Phe35fs) rs1912920081
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) rs281865195
NM_014336.5(AIPL1):c.105_106insGTGATCTT (p.His36fs) rs1912919808
NM_014336.5(AIPL1):c.142_145del (p.Val48fs) rs2543916709
NM_014336.5(AIPL1):c.152A>G (p.Asp51Gly) rs1336690304
NM_014336.5(AIPL1):c.1A>G (p.Met1Val) rs757900399
NM_014336.5(AIPL1):c.211G>T (p.Val71Phe) rs775364986
NM_014336.5(AIPL1):c.215G>A (p.Trp72Ter) rs1468041544
NM_014336.5(AIPL1):c.238C>T (p.Arg80Trp) rs748210823
NM_014336.5(AIPL1):c.289_292del (p.Tyr97fs) rs2543893959
NM_014336.5(AIPL1):c.294del (p.Ile99fs) rs1597331616
NM_014336.5(AIPL1):c.2T>C (p.Met1Thr) rs2543922227
NM_014336.5(AIPL1):c.325C>T (p.Gln109Ter) rs1912228419
NM_014336.5(AIPL1):c.34dup (p.Val12fs) rs752193525
NM_014336.5(AIPL1):c.364G>A (p.Gly122Arg) rs201883601
NM_014336.5(AIPL1):c.454G>T (p.Glu152Ter) rs150886208
NM_014336.5(AIPL1):c.466-1G>C rs1567637467
NM_014336.5(AIPL1):c.487C>T (p.Gln163Ter) rs62637009
NM_014336.5(AIPL1):c.488_498del (p.Gln163fs) rs2150678060
NM_014336.5(AIPL1):c.512dup (p.Asn171fs) rs1912058703
NM_014336.5(AIPL1):c.547G>T (p.Gly183Ter) rs374255033
NM_014336.5(AIPL1):c.572T>C (p.Leu191Pro) rs1567637144
NM_014336.5(AIPL1):c.582C>G (p.Tyr194Ter) rs368845643
NM_014336.5(AIPL1):c.589G>C (p.Ala197Pro) rs62637010
NM_014336.5(AIPL1):c.597dup (p.Lys200fs) rs1283508592
NM_014336.5(AIPL1):c.59del (p.Gly20fs) rs1281214893
NM_014336.5(AIPL1):c.621C>A (p.Cys207Ter) rs2543885495
NM_014336.5(AIPL1):c.643-2A>T rs2150677132
NM_014336.5(AIPL1):c.665G>A (p.Trp222Ter) rs1912011058
NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg) rs62637012
NM_014336.5(AIPL1):c.773G>C (p.Arg258Pro) rs751881283
NM_014336.5(AIPL1):c.778dup (p.His260fs) rs2543883456
NM_014336.5(AIPL1):c.785-10_786del rs1911894399
NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro) rs1284009768
NM_014336.5(AIPL1):c.826G>T (p.Glu276Ter) rs2150674982
NM_014336.5(AIPL1):c.867dup (p.Val290fs) rs2543877681
NM_014336.5(AIPL1):c.88G>T (p.Gly30Ter) rs145112457
NM_014336.5(AIPL1):c.905_906del (p.Arg302fs)
NM_014336.5(AIPL1):c.950dup (p.Glu318fs)
NM_014336.5(AIPL1):c.96+4A>T rs772417830
NM_014336.5(AIPL1):c.99del (p.Ile34fs) rs1597340989

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.