List of variants in gene combination COL5A1, LOC101448202 reported by Genome Diagnostics Laboratory, Amsterdam University Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=)	rs2228559	0.03652
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met)	rs2229817	0.00346
NM_000093.5(COL5A1):c.4782C>T (p.Asp1594=)	rs372971566	0.00005
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=)	rs2228560
NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=)	rs2228560
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)	rs143859495

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