ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome, classic type by Center for Human Genetics, Inc

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000093.4(COL5A1):c.2331+16G>A rs199654385
NM_000093.4(COL5A1):c.4240G>A (p.Gly1414Ser) rs776709663
NM_000093.4(COL5A1):c.492-3C>T rs1027866868
NM_000093.4(COL5A1):c.787-15G>A rs150200872
NM_000393.5(COL5A2):c.3854C>T (p.Pro1285Leu) rs867460091

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