ClinVar Miner

List of variants studied for eye degenerative disorder by New York Genome Center

Included ClinVar conditions (119):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile) rs149496322 0.00019
NM_001379500.1(COL18A1):c.1261C>T (p.Pro421Ser) rs375265466 0.00019
NM_001376.5(DYNC1H1):c.3704A>G (p.Gln1235Arg) rs867503066 0.00007
NM_001376.5(DYNC1H1):c.4884G>A (p.Arg1628=) rs1273328322 0.00002
NM_001376.5(DYNC1H1):c.11684C>T (p.Thr3895Ile) rs771563083 0.00001
NM_001376.5(DYNC1H1):c.13682C>T (p.Thr4561Met) rs1376784009 0.00001
NM_001376.5(DYNC1H1):c.7262C>T (p.Thr2421Met) rs770803375 0.00001
NM_001376.5(DYNC1H1):c.8275A>G (p.Ile2759Val) rs1131691452 0.00001
NM_152296.5(ATP1A3):c.1906G>A (p.Ala636Thr) rs782744167 0.00001
NC_000014.9:g.87925163_87956828del
NM_001376.5(DYNC1H1):c.11806G>A (p.Val3936Met) rs780676515
NM_001376.5(DYNC1H1):c.1273G>T (p.Asp425Tyr) rs2141272504
NM_001376.5(DYNC1H1):c.13855A>G (p.Ile4619Val) rs879254286
NM_001376.5(DYNC1H1):c.1739A>C (p.Glu580Ala) rs2141274671
NM_001376.5(DYNC1H1):c.4603G>A (p.Asp1535Asn)
NM_001376.5(DYNC1H1):c.5182G>A (p.Gly1728Ser) rs77319596
NM_001376.5(DYNC1H1):c.7438C>G (p.Pro2480Ala) rs1018948570
NM_001376.5(DYNC1H1):c.83C>G (p.Ser28Trp) rs765882472
NM_001376.5(DYNC1H1):c.8606G>T (p.Arg2869Leu)
NM_001376.5(DYNC1H1):c.9436A>G (p.Ser3146Gly) rs2048470658
NM_001379500.1(COL18A1):c.107-11987C>A rs757523045
NM_001379500.1(COL18A1):c.845C>T (p.Thr282Met)
NM_001854.4(COL11A1):c.1351-1G>A rs1666692498
NM_001854.4(COL11A1):c.2711G>T (p.Gly904Val) rs2101679210
NM_001854.4(COL11A1):c.3511G>C (p.Gly1171Arg)

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.