ClinVar Miner

List of variants in gene combination COL18A1, SLC19A1 reported as uncertain significance for Knobloch syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP
NM_030582.4(COL18A1):c.*1088C>T rs756987643
NM_030582.4(COL18A1):c.*1129A>C rs576842258
NM_030582.4(COL18A1):c.*1157C>G rs527507454
NM_030582.4(COL18A1):c.*1203A>G rs886057147
NM_030582.4(COL18A1):c.*1222C>T rs569200043
NM_030582.4(COL18A1):c.*133T>C rs886057138
NM_030582.4(COL18A1):c.*134G>A rs570448232
NM_030582.4(COL18A1):c.*305C>T rs540888320
NM_030582.4(COL18A1):c.*30G>A rs373537387
NM_030582.4(COL18A1):c.*342C>G rs886057139
NM_030582.4(COL18A1):c.*369C>T rs886057140
NM_030582.4(COL18A1):c.*390G>A rs760605806
NM_030582.4(COL18A1):c.*505G>A rs886057141
NM_030582.4(COL18A1):c.*584C>A rs886057143
NM_030582.4(COL18A1):c.*638G>A rs886057144
NM_030582.4(COL18A1):c.*866C>T rs886057146
NM_030582.4(COL18A1):c.3233C>T (p.Pro1078Leu) rs201753320
NM_030582.4(COL18A1):c.3234G>A (p.Pro1078=) rs190374248
NM_030582.4(COL18A1):c.3320_3321insT (p.Gly1108fs) rs771218061
NM_030582.4(COL18A1):c.3327C>T (p.Gly1109=) rs11544971
NM_030582.4(COL18A1):c.3328G>A (p.Gly1110Ser) rs771054336
NM_030582.4(COL18A1):c.3363C>A (p.Pro1121=) rs543392161
NM_030582.4(COL18A1):c.3430C>T (p.Pro1144Ser) rs761528498
NM_030582.4(COL18A1):c.3487C>T (p.Pro1163Ser) rs753873000
NM_030582.4(COL18A1):c.3495_3503CCCCCCAGG[1] (p.1162_1164GPP[3]) rs759403198
NM_030582.4(COL18A1):c.3561C>T (p.Gly1187=) rs886057129
NM_030582.4(COL18A1):c.3898G>A (p.Ala1300Thr) rs886057131
NM_030582.4(COL18A1):c.4078C>T (p.Arg1360Cys) rs746594158
NM_030582.4(COL18A1):c.4079G>A (p.Arg1360His) rs770331440
NM_030582.4(COL18A1):c.4089C>T (p.Asp1363=) rs886057132
NM_030582.4(COL18A1):c.4189G>A (p.Ala1397Thr) rs886057133
NM_030582.4(COL18A1):c.4296C>T (p.Arg1432=) rs886057135
NM_194255.4(SLC19A1):c.*2396G>T rs186538749
NM_194255.4(SLC19A1):c.*2409G>A rs886057145
NM_194255.4(SLC19A1):c.*2411T>A rs17255379
NM_194255.4(SLC19A1):c.*2713dup rs545057492
NM_194255.4(SLC19A1):c.*2728A>G rs560265269
NM_194255.4(SLC19A1):c.*2762C>T rs555167805
NM_194255.4(SLC19A1):c.*2776G>A rs548084117
NM_194255.4(SLC19A1):c.*2958G>T rs17255281

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.