ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, musculocontractural type by Genetic Services Laboratory, University of Chicago

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_130468.4(CHST14):c.784G>A (p.Glu262Lys) rs1247205097 0.00002

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