List of variants in gene combination COL5A1, LOC101448202 reported as uncertain significance by MGZ Medical Genetics 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)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met)	rs375076580	0.00007
NM_000093.5(COL5A1):c.4706C>T (p.Pro1569Leu)	rs1297565068	0.00002
NM_000093.5(COL5A1):c.4831A>C (p.Ile1611Leu)	rs754447923	0.00001
NM_000093.5(COL5A1):c.5426A>C (p.Gln1809Pro)	rs1830127790	0.00001
NM_000093.5(COL5A1):c.5305T>C (p.Ser1769Pro)

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