ClinVar Miner

List of variants reported as pathogenic for Ehlers-Danlos syndrome, spondylocheirodysplastic type by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_001128225.3(SLC39A13):c.221G>A (p.Gly74Asp) rs121434363
SLC39A13, 9-BP DEL, NT483

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