ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.1022C>A (p.Ala341Asp) rs1688217809
NM_000090.4(COL3A1):c.1244C>A (p.Pro415His) rs1408351089
NM_000090.4(COL3A1):c.1694_1697del (p.Pro565fs)
NM_000090.4(COL3A1):c.2588G>A (p.Arg863His) rs755762264
NM_000090.4(COL3A1):c.3202G>T (p.Gly1068Cys) rs1559061954
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser) rs587779650

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