ClinVar Miner

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

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.787-15G>A rs150200872 0.00704
NM_000093.5(COL5A1):c.2331+16G>A rs199654385 0.00028
NM_000093.5(COL5A1):c.4240G>A (p.Gly1414Ser) rs776709663 0.00003
NM_000093.5(COL5A1):c.492-3C>T rs1027866868 0.00001
NM_000393.5(COL5A2):c.3854C>T (p.Pro1285Leu) rs867460091

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