ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome type 7A by GenomeConnect, ClinGen

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_000088.3(COL1A1):c.2845C>T (p.Pro949Ser) rs1434279534
NM_000089.3(COL1A2):c.594+5A>T rs200744314

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