List of variants in gene COL5A2 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000393.5(COL5A2):c.75A>G (p.Lys25=)	rs549894501	0.00026
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=)	rs933589600	0.00013
NM_000393.5(COL5A2):c.906+9A>G	rs761662868	0.00011
NM_000393.5(COL5A2):c.3488A>G (p.Gln1163Arg)	rs758412337	0.00007
NM_000393.5(COL5A2):c.389G>A (p.Arg130His)	rs377331666	0.00006
NM_000393.5(COL5A2):c.1006-8G>A	rs200405052	0.00003
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu)	rs778835151	0.00002
NM_000393.5(COL5A2):c.2786C>T (p.Ala929Val)	rs747843876	0.00001
NM_000393.5(COL5A2):c.798+5G>A	rs1296613540	0.00001
NM_000393.5(COL5A2):c.1813A>G (p.Ile605Val)	rs2105590952
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=)	rs863223491
NM_000393.5(COL5A2):c.28C>A (p.Pro10Thr)	rs1457897938
NM_000393.5(COL5A2):c.875C>T (p.Ala292Val)	rs1211991688

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