ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome by Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_000093.5(COL5A1):c.2700+191C>T rs183885286
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) rs782426283
NM_013352.4(DSE):c.1568G>A (p.Gly523Glu) rs1562313702
NM_130468.4(CHST14):c.436C>G (p.Arg146Gly) rs1007569346

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