ClinVar Miner

List of variants in gene COL5A1 studied for Arrhythmia; Joint dislocation; Joint laxity; Wolff-Parkinson-White syndrome; Arthralgia; Hyperextensible hand joints

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_000093.4(COL5A1):c.1389G>A (p.Pro463=) rs1057518771

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