ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, classic type by GeneReviews

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_000093.4(COL5A1):c.4916G>C (p.Cys1639Ser) rs80338764
NM_001278074.1(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045

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