List of variants in gene combination COL5A1, LOC101448202 reported as uncertain significance by PreventionGenetics, part of Exact Sciences

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.5311G>A (p.Asp1771Asn)	rs1005244744	0.00004
NM_000093.5(COL5A1):c.4652C>T (p.Thr1551Ile)	rs863223460	0.00002
NM_000093.5(COL5A1):c.4750C>T (p.Arg1584Trp)	rs758378927	0.00001
NM_000093.5(COL5A1):c.4711G>C (p.Glu1571Gln)
NM_000093.5(COL5A1):c.4751G>C (p.Arg1584Pro)
NM_000093.5(COL5A1):c.4939C>G (p.Pro1647Ala)
NM_000093.5(COL5A1):c.5168T>C (p.Val1723Ala)
NM_000093.5(COL5A1):c.5371-5C>T

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