ClinVar Miner

List of variants reported as pathogenic for Ehlers-Danlos syndrome by GeneReviews

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_000093.4(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000093.4(COL5A1):c.4916G>C (p.Cys1639Ser) rs80338764
NM_017946.3(FKBP14):c.143T>A (p.Met48Lys)
NM_017946.3(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_017946.3(FKBP14):c.570_572AGA[1] (p.Glu191del) rs1430849353

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