List of variants in gene COL5A1 reported as benign for Ehlers-Danlos syndrome type 7A

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.-247T>G	rs71483234	0.99656
NM_000093.5(COL5A1):c.1432-5T>C	rs3128612	0.57159
NM_000093.5(COL5A1):c.2952+11A>T	rs4240707	0.51337
NM_000093.5(COL5A1):c.738C>T (p.Thr246=)	rs3124299	0.34823
NM_000093.5(COL5A1):c.4176+9T>G	rs10858282	0.31743
NM_000093.5(COL5A1):c.1092C>T (p.Pro364=)	rs41306391	0.08110
NM_000093.5(COL5A1):c.1431G>A (p.Ala477=)	rs61729545	0.06122

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