ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome by Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_000302.4(PLOD1):c.775C>T (p.Arg259Cys) rs1181531160
NM_001110556.2(FLNA):c.4528A>C (p.Asn1510His) rs1557177310
NM_001110556.2(FLNA):c.6532G>C (p.Val2178Leu) rs1569551461
NM_001278074.1(COL5A1):c.2114C>T (p.Pro705Leu) rs375456811
NM_001278074.1(COL5A1):c.515T>A (p.Val172Asp) rs1554781678
NM_002474.3(MYH11):c.2139G>C (p.Gln713His) rs779897931
NM_005120.3(MED12):c.5476C>T (p.Pro1826Ser) rs867576281
NM_030777.4(SLC2A10):c.164T>C (p.Leu55Pro) rs1555887820

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.