List of variants in gene combination COL5A1, LOC101448202 reported by Fulgent Genetics, Fulgent Genetics

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_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.5280C>T (p.Tyr1760=)	rs767284056	0.00012
NM_000093.5(COL5A1):c.4717A>G (p.Ile1573Val)	rs373448943	0.00007
NM_000093.5(COL5A1):c.4522C>A (p.Pro1508Thr)	rs148687561	0.00004
NM_000093.5(COL5A1):c.5339C>A (p.Pro1780His)	rs746104317	0.00002
NM_000093.5(COL5A1):c.4586C>A (p.Pro1529His)	rs201582108	0.00001
NM_000093.5(COL5A1):c.4765G>A (p.Ala1589Thr)	rs377138881	0.00001
NM_000093.5(COL5A1):c.4795G>A (p.Glu1599Lys)	rs149212775
NM_000093.5(COL5A1):c.5357dup (p.Asp1787fs)	rs863223475

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