ClinVar Miner

List of variants in gene combination COL5A1, LOC101448202 reported as likely benign by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.4782C>T (p.Asp1594=)	rs372971566	0.00005
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)	rs143859495

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