ClinVar Miner

List of variants in gene COL5A1 reported as likely pathogenic for Ehlers-Danlos syndrome, classic type

Included ClinVar conditions (2):
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Total variants: 10
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HGVS dbSNP
NC_000009.11:g.(?_137582738)_(137593199_?)dup
NM_000093.4(COL5A1):c.2386-3C>G rs1564453831
NM_000093.4(COL5A1):c.2484+1G>T rs1564455577
NM_000093.4(COL5A1):c.2700+2T>C
NM_000093.4(COL5A1):c.3529-1G>T
NM_000093.4(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022
NM_000093.4(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
NM_000093.4(COL5A1):c.4069-1G>T rs1564478485
NM_000093.4(COL5A1):c.406C>T (p.Pro136Ser) rs777625241
NM_000093.4(COL5A1):c.655-1917_690del

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