ClinVar Miner

List of variants reported as pathogenic for Ehlers-Danlos syndrome by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_000090.3(COL3A1):c.1618G>A (p.Gly540Arg) rs587779584
NM_014244.5(ADAMTS2):c.673C>T (p.Gln225Ter) rs137853146
NM_130468.3(CHST14):c.842C>T (p.Pro281Leu) rs267606729

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