ClinVar Miner

List of variants in gene COL5A1 reported as not provided for Ehlers-Danlos syndrome, classic type

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Total variants: 6
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NM_000093.5(COL5A1):c.695C>T (p.Ala232Val)
NM_001278074.1(COL5A1):c.1303C>G (p.Pro435Ala) rs377488010
NM_001278074.1(COL5A1):c.1637C>T (p.Ala546Val) rs557361751
NM_001278074.1(COL5A1):c.2096C>T (p.Thr699Met) rs142313124
NM_001278074.1(COL5A1):c.3023C>T (p.Thr1008Met) rs199735010
NM_001278074.1(COL5A1):c.61C>T (p.Pro21Ser) rs548525119

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