ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, vascular type by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_000090.4(COL3A1):c.113C>A (p.Ser38Tyr) rs755509578 0.00001
NM_000090.4(COL3A1):c.555del (p.Gly186fs) rs587779451

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