ClinVar Miner

List of variants reported as benign for Corneal dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_207352.4(CYP4V2):c.*1781A>C rs6842047 0.89083
NM_207352.4(CYP4V2):c.*725C>T rs10033577 0.89040
NM_207352.4(CYP4V2):c.*741C>T rs10033581 0.81342
NM_207352.4(CYP4V2):c.810T>G (p.Ala270=) rs3736455 0.62273
NM_207352.4(CYP4V2):c.775C>A (p.Gln259Lys) rs13146272 0.60911
NM_001174089.2(SLC4A11):c.433A>C (p.Arg145=) rs3827075 0.49054
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138 0.46276
NM_207352.4(CYP4V2):c.*1236A>T rs1053094 0.45426
NM_001174089.2(SLC4A11):c.44-121G>C rs3827076 0.44987
NM_001174089.2(SLC4A11):c.1043-15A>C rs3803953 0.43502
NM_207352.4(CYP4V2):c.-146C>T rs1398007 0.41622
NM_207352.4(CYP4V2):c.-152A>G rs2241819 0.39682
NM_000358.3(TGFBI):c.1620T>C (p.Phe540=) rs4669 0.38557
NM_207352.4(CYP4V2):c.802-7C>T rs3817184 0.36293
NM_000358.3(TGFBI):c.651G>C (p.Leu217=) rs1442 0.36069
NM_000358.3(TGFBI):c.981A>G (p.Val327=) rs1054124 0.35276
NM_000358.3(TGFBI):c.1416C>T (p.Leu472=) rs1133170 0.27861
NM_001174089.2(SLC4A11):c.89-8G>T rs3803957 0.27831
NM_001174089.2(SLC4A11):c.591G>A (p.Ser197=) rs3803956 0.17522
NM_001174089.2(SLC4A11):c.2389-9C>T rs41281858 0.17452
NM_207352.4(CYP4V2):c.*2399C>T rs56413992 0.15680
NM_001174089.2(SLC4A11):c.1283-11C>T rs41281862 0.09711
NM_001174089.2(SLC4A11):c.1611C>T (p.Asn537=) rs41281860 0.09317
NM_001174089.2(SLC4A11):c.1341G>A (p.Thr447=) rs6084312 0.08722
NM_207352.4(CYP4V2):c.846T>C (p.Cys282=) rs3736456 0.07854
NM_207352.4(CYP4V2):c.1083C>T (p.Asp361=) rs10029149 0.07706
NM_207352.4(CYP4V2):c.*1148A>G rs10011736 0.07494
NM_001174089.2(SLC4A11):c.*34C>T rs6051657 0.06969
NM_001174089.2(SLC4A11):c.2193-4G>A rs10048856 0.06274
NM_207352.4(CYP4V2):c.555A>T (p.Ala185=) rs11932764 0.04735
NM_000358.3(TGFBI):c.*267C>A rs17169782 0.03306
NM_001174089.2(SLC4A11):c.357G>A (p.Ala119=) rs34460295 0.02737
NM_000358.3(TGFBI):c.1803G>A (p.Leu601=) rs35151677 0.02232
NM_000358.3(TGFBI):c.1411-3C>T rs11242308 0.02094
NM_000358.3(TGFBI):c.*458G>A rs7854 0.01047
NM_000358.3(TGFBI):c.1027A>G (p.Met343Val) rs35920018 0.00652
NM_000358.3(TGFBI):c.816C>T (p.Asn272=) rs34334509 0.00623
NM_000358.3(TGFBI):c.1312C>T (p.His438Tyr) rs148555720 0.00056
NM_207352.4(CYP4V2):c.*364T>G rs7697077

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.