ClinVar Miner

List of variants studied for Anterior segment dysgenesis 3

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser) rs79691946 0.03108
NM_001453.3(FOXC1):c.-244C>T rs185790394 0.00605
NM_001453.3(FOXC1):c.1039C>T (p.Pro347Ser) rs1217776043 0.00001
NM_001453.3(FOXC1):c.325A>G (p.Met109Val) rs917382067 0.00001
FOXC1, 22-BP INS, NT26
FOXC1, DUP
GRCh37/hg19 6p25.3(chr6:1318643-1837594)x3
NM_001453.3(FOXC1):c.1338CGG[9] (p.Gly456dup) rs398123612
NM_001453.3(FOXC1):c.153_163del (p.His52fs) rs2113111009
NM_001453.3(FOXC1):c.200A>G (p.Tyr67Cys) rs2480501952
NM_001453.3(FOXC1):c.235C>A (p.Pro79Thr) rs1554100945
NM_001453.3(FOXC1):c.241_243del (p.Tyr81del) rs2113111273
NM_001453.3(FOXC1):c.261C>G (p.Ile87Met) rs104893954
NM_001453.3(FOXC1):c.337_339dup (p.Pro113dup) rs2113111517
NM_001453.3(FOXC1):c.349del (p.Asp117fs) rs1554100953
NM_001453.3(FOXC1):c.378C>G (p.Ile126Met) rs104893958
NM_001453.3(FOXC1):c.392C>T (p.Ser131Leu) rs104893957
NM_001453.3(FOXC1):c.398_401del (p.Asn133fs) rs2113111662
NM_001453.3(FOXC1):c.454T>C (p.Trp152Arg) rs2113111766
NM_001453.3(FOXC1):c.487G>T (p.Glu163Ter) rs1057519477
NM_001453.3(FOXC1):c.718_719del (p.Leu240fs) rs1057519480
NM_001453.3(FOXC1):c.824dup (p.Ser276fs)
NM_001453.3(FOXC1):c.89C>T (p.Ala30Val) rs1762516271

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.