ClinVar Miner

List of variants in gene combination COL5A1, LOC101448202 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: 10
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NM_000093.5(COL5A1):c.4465G>A (p.Gly1489Arg)
NM_000093.5(COL5A1):c.4476_4478TCC[1] (p.Pro1494del)
NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter) rs1588621711
NM_001278074.1(COL5A1):c.4474G>A (p.Gly1492Ser) rs863223458
NM_001278074.1(COL5A1):c.4554+1G>C rs1564482508
NM_001278074.1(COL5A1):c.5141_5143del (p.Ser1714del) rs1060502250
NM_001278074.1(COL5A1):c.5204G>A (p.Ser1735Asn) rs1588615451

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