ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP
NM_000093.4(COL5A1):c.-247T>G rs71483234
NM_000093.4(COL5A1):c.1092C>T (p.Pro364=) rs41306391
NM_000093.4(COL5A1):c.1431G>A (p.Ala477=) rs61729545
NM_000093.4(COL5A1):c.1432-5T>C rs3128612
NM_000093.4(COL5A1):c.2952+11A>T rs4240707
NM_000093.4(COL5A1):c.4176+9T>G rs10858282
NM_000093.4(COL5A1):c.738C>T (p.Thr246=) rs3124299

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