ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, vascular type by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.1733T>A (p.Met578Lys)
NM_000090.4(COL3A1):c.1754G>T (p.Gly585Val) rs2153502692
NM_000090.4(COL3A1):c.2176G>A (p.Gly726Arg) rs587779638
NM_000090.4(COL3A1):c.2330G>A (p.Gly777Glu)
NM_000090.4(COL3A1):c.3836T>C (p.Val1279Ala)

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