ClinVar Miner

List of variants reported as likely pathogenic for Ehlers-Danlos syndrome, musculocontractural type

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Total variants: 2
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NM_130468.3(CHST14):c.160dup (p.Ser54fs) rs1566969054
NM_130468.3(CHST14):c.784G>A (p.Glu262Lys) rs1247205097

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