ClinVar Miner

List of variants reported as likely pathogenic for Ehlers-Danlos syndrome, vascular type by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.3202G>T (p.Gly1068Cys) rs1559061954
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060

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