ClinVar Miner

List of variants in gene COL5A2 reported as likely pathogenic for Ehlers-Danlos syndrome, classic type

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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NM_000393.5(COL5A2):c.1186G>C (p.Gly396Arg)
NM_000393.5(COL5A2):c.1933G>A (p.Gly645Arg) rs1559085564
NM_000393.5(COL5A2):c.1977+1G>A rs1576502045
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000393.5(COL5A2):c.3309+1G>A rs1553513657
NM_000393.5(COL5A2):c.3490G>C (p.Gly1164Arg)
NM_000393.5(COL5A2):c.369+1G>T rs1559104199
NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys) rs1553517323

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