ClinVar Miner

List of variants in gene HTRA1 studied for Macular degeneration

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002775.5(HTRA1):c.1274+8G>A rs2672586 0.99939
NM_002775.5(HTRA1):c.1274+14G>A rs2272599 0.63755
NM_002775.5(HTRA1):c.753C>T (p.Ile251=) rs17624021 0.04155
NM_002775.5(HTRA1):c.473-8G>T rs114877122 0.00498
NM_002775.5(HTRA1):c.337G>T (p.Ala113Ser) rs140088745 0.00485
NM_002775.5(HTRA1):c.1221C>T (p.Asp407=) rs11538140 0.00305
NM_002775.5(HTRA1):c.879C>T (p.Thr293=) rs149294320 0.00207
NM_002775.5(HTRA1):c.1094C>T (p.Thr365Met) rs139620409 0.00056
NM_002775.5(HTRA1):c.*296C>G rs28665753 0.00055
NM_002775.5(HTRA1):c.*460C>T rs575641740 0.00039
NM_002775.5(HTRA1):c.12G>T (p.Pro4=) rs761008513 0.00021
NM_002775.5(HTRA1):c.245C>G (p.Pro82Arg) rs541204010 0.00021
NM_002775.5(HTRA1):c.*446G>A rs555692792 0.00019
NM_002775.5(HTRA1):c.451C>A (p.Gln151Lys) rs754645487 0.00019
NM_002775.5(HTRA1):c.1333G>A (p.Ala445Thr) rs371279115 0.00013
NM_002775.5(HTRA1):c.176G>C (p.Arg59Pro) rs1246114252 0.00012
NM_002775.5(HTRA1):c.472+6C>A rs550039968 0.00012
NM_002775.5(HTRA1):c.834C>T (p.Phe278=) rs141130635 0.00012
NM_002775.5(HTRA1):c.1350C>T (p.Asp450=) rs374675648 0.00007
NM_002775.5(HTRA1):c.777+14C>T rs201190236 0.00007
NM_002775.5(HTRA1):c.843C>T (p.Ala281=) rs202167109 0.00006
NM_002775.5(HTRA1):c.1260T>A (p.Asp420Glu) rs144118239 0.00004
NM_002775.5(HTRA1):c.10C>T (p.Pro4Ser) rs1325725955 0.00003
NM_002775.5(HTRA1):c.*217T>A rs886046773 0.00001
NM_002775.5(HTRA1):c.385C>T (p.Leu129=) rs757237545 0.00001
NM_002775.5(HTRA1):c.578C>T (p.Pro193Leu) rs748367895 0.00001
NM_002775.5(HTRA1):c.770A>C (p.Asp257Ala) rs1199033479 0.00001
NM_002775.5(HTRA1):c.844A>C (p.Ile282Leu) rs1329676998 0.00001
NM_002775.5(HTRA1):c.*191G>T rs562876149
NM_002775.5(HTRA1):c.133C>T (p.Arg45Cys) rs1473219900
NM_002775.5(HTRA1):c.33_34insTCC (p.Leu11_Leu12insSer) rs541533723
NM_002775.5(HTRA1):c.34C>T (p.Leu12=) rs996483189
NM_002775.5(HTRA1):c.840C>A (p.Val280=) rs141925572

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.