ClinVar Miner

List of variants studied for Fraser syndrome 1 by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025074.7(FRAS1):c.10649-29T>A rs931604 0.99498
NM_025074.7(FRAS1):c.470-35T>C rs1017646 0.97862
NM_025074.7(FRAS1):c.7132A>G (p.Lys2378Glu) rs7684722 0.97162
NM_025074.7(FRAS1):c.7371+11T>C rs7664505 0.95846
NM_025074.7(FRAS1):c.604-8G>A rs2867014 0.93589
NM_025074.7(FRAS1):c.1947T>C (p.His649=) rs345514 0.79008
NM_025074.7(FRAS1):c.6468C>T (p.His2156=) rs753752 0.67410
NM_025074.7(FRAS1):c.10696G>A (p.Val3566Ile) rs931606 0.51866
NM_025074.7(FRAS1):c.9116-11T>C rs7677541 0.51261
NM_025074.7(FRAS1):c.9116-5C>G rs7695038 0.50468
NM_025074.7(FRAS1):c.95A>G (p.Asp32Gly) rs4859905 0.50277
NM_025074.7(FRAS1):c.2450C>T (p.Ala817Val) rs6835769 0.43382
NM_025074.7(FRAS1):c.11037C>G (p.Pro3679=) rs4975070 0.42060
NM_025074.7(FRAS1):c.11056C>T (p.Leu3686=) rs4975139 0.42041
NM_025074.7(FRAS1):c.3151+14_3151+15dup rs398092530 0.38519
NM_025074.7(FRAS1):c.7110C>T (p.His2370=) rs7660664 0.38360
NM_025074.7(FRAS1):c.8439C>T (p.Asp2813=) rs11098194 0.32564
NM_025074.7(FRAS1):c.7011G>A (p.Ala2337=) rs6851427 0.32517
NM_025074.7(FRAS1):c.1396T>A (p.Leu466Ile) rs12504081 0.31848
NM_025074.7(FRAS1):c.9808A>C (p.Arg3270=) rs3749488 0.31772
NM_025074.7(FRAS1):c.5366+13T>G rs2170899 0.31001
NM_025074.7(FRAS1):c.3406G>A (p.Glu1136Lys) rs12512164 0.24213
NM_025074.7(FRAS1):c.7254A>G (p.Lys2418=) rs34840208 0.22689
NM_025074.7(FRAS1):c.10648+25del rs397994139
NM_025074.7(FRAS1):c.2060A>G (p.Asp687Gly) rs345513

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.