ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, vascular type by Centre for Translational Omics - GOSgene, University College London

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.2194G>A (p.Gly732Arg) rs587779606

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