List of variants in gene combination COL5A1, LOC101448202 reported as uncertain significance by Eurofins Ntd Llc (ga)

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.4906G>A (p.Ala1636Thr)	rs113452150	0.00092
NM_000093.5(COL5A1):c.5026G>C (p.Gly1676Arg)	rs368448060	0.00003
NM_000093.5(COL5A1):c.5148G>A (p.Val1716=)	rs772597610
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)	rs143859495

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