ClinVar Miner

List of variants reported as pathogenic for Ehlers-Danlos syndrome by Center for Human Genetics, Inc

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_000090.3(COL3A1):c.3527G>A (p.Gly1176Asp) rs1553509726
NM_000090.3(COL3A1):c.636+5G>A (p.Gly195_Ser212del) rs587779688

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