List of variants in gene combination COL5A1, LOC101448202 reported as benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.4955-16C>T	rs112712705	0.01710
NM_000093.5(COL5A1):c.5067+20C>G	rs112600748	0.01689
NM_000093.5(COL5A1):c.5068-7T>C	rs113256540	0.01472
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=)	rs61729481	0.01170
NM_000093.5(COL5A1):c.4699-6C>T	rs113090154	0.00923
NM_000093.5(COL5A1):c.5136+152C>T	rs113504942	0.00827
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=)	rs61729558	0.00781
NM_000093.5(COL5A1):c.5137-11T>C	rs183495554	0.00512
NM_000093.5(COL5A1):c.5137-12C>T	rs191758714	0.00488
NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn)	rs61729495	0.00394
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met)	rs2229817	0.00346
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=)	rs149959668	0.00034
NM_000093.5(COL5A1):c.4812C>T (p.Tyr1604=)	rs542783734	0.00005
NM_000093.5(COL5A1):c.4473C>T (p.Ile1491=)	rs537768945	0.00004
NM_000093.5(COL5A1):c.*733C>A	rs3196378

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