List of variants in gene combination COL5A1, LOC101448202 reported by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.5137-8C>T	rs374377228	0.00017
NM_000093.5(COL5A1):c.5348G>A (p.Arg1783His)	rs777045810	0.00006
NM_000093.5(COL5A1):c.4879C>T (p.Arg1627Trp)	rs558906147	0.00002
NM_000093.5(COL5A1):c.5371-8T>C	rs1352923765	0.00002
NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter)	rs1588621711

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