ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, vascular type by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.2627G>C (p.Gly876Ala) rs1158155272 0.00001
NM_000090.4(COL3A1):c.1618G>A (p.Gly540Arg) rs587779584
NM_000090.4(COL3A1):c.1762G>A (p.Gly588Ser) rs1553508338
NM_000090.4(COL3A1):c.2914G>A (p.Gly972Ser) rs587779723
NM_000090.4(COL3A1):c.3417+1G>A rs587779444
NM_000090.4(COL3A1):c.3437G>A (p.Gly1146Glu) rs587779495
NM_000090.4(COL3A1):c.951+4A>T rs587779598
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser) rs587779650
NM_000090.4(COL3A1):c.998G>A (p.Gly333Asp) rs587779673

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