List of variants in gene combination COL5A1, LOC101448202 reported as uncertain significance for Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.5137-8C>T	rs374377228	0.00017
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.4879C>T (p.Arg1627Trp)	rs558906147	0.00002
NM_000093.5(COL5A1):c.5339C>A (p.Pro1780His)	rs746104317	0.00002
NM_000093.5(COL5A1):c.5371-8T>C	rs1352923765	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

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