ClinVar Miner

List of variants in gene FLNA, LOC107988032 studied for Ehlers-Danlos syndrome

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_001110556.2(FLNA):c.7555C>T (p.Pro2519Ser) rs782383611
NM_001110556.2(FLNA):c.7568G>A (p.Ser2523Asn) rs782555930
NM_001110556.2(FLNA):c.7596A>G (p.Ser2532=) rs200694807
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr) rs201762017
NM_001110556.2(FLNA):c.7649C>T (p.Pro2550Leu) rs371724771
NM_001110556.2(FLNA):c.7655C>T (p.Pro2552Leu) rs1334045176
NM_001110556.2(FLNA):c.7660C>A (p.Pro2554Thr) rs1060500720
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) rs76337075
NM_001110556.2(FLNA):c.7738G>A (p.Val2580Ile) rs377518545
NM_001110556.2(FLNA):c.7756+8A>G rs201663443
NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) rs1557175195
NM_001110556.2(FLNA):c.7784A>C (p.His2595Pro)
NM_001110556.2(FLNA):c.7802G>A (p.Cys2601Tyr) rs1060500721
NM_001110556.2(FLNA):c.7817_7820del (p.Val2606fs) rs1557175175
NM_001110556.2(FLNA):c.7822C>T (p.His2608Tyr) rs781993962
NM_001110556.2(FLNA):c.7846G>A (p.Val2616Met)
NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs)
NM_001110556.2(FLNA):c.7896G>A (p.Trp2632Ter) rs398122812
NM_001110556.2(FLNA):c.7900G>C (p.Asp2634His) rs782341270
NM_001110556.2(FLNA):c.7919G>T (p.Ser2640Ile) rs1557175110
NM_001110556.2(FLNA):c.7927C>T (p.Arg2643Cys) rs200836471
NM_001110556.2(FLNA):c.7932_7934del (p.Val2646del) rs1060500715

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.