List of variants in gene COL5A2 reported as uncertain significance for Inborn genetic diseases

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000393.5(COL5A2):c.3919C>G (p.Gln1307Glu)	rs142814184	0.00011
NM_000393.5(COL5A2):c.389G>A (p.Arg130His)	rs377331666	0.00006
NM_000393.5(COL5A2):c.1618-7G>A	rs77456219	0.00002
NM_000393.5(COL5A2):c.1518A>T (p.Arg506Ser)	rs1553515645

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