ClinVar Miner

List of variants in gene combination COL5A1, LOC101448202 reported as likely pathogenic for Ehlers-Danlos syndrome

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NC_000009.11:g.(?_137726797)_(137727070_?)del
NM_000093.4(COL5A1):c.4474G>A (p.Gly1492Ser) rs863223458
NM_000093.4(COL5A1):c.4554+1G>C rs1564482508
NM_000093.4(COL5A1):c.5141_5143del (p.Ser1714del) rs1060502250
NM_000093.4(COL5A1):c.5204G>A (p.Ser1735Asn)

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