ClinVar Miner

List of variants in gene COL5A1 reported as pathogenic by OMIM

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Total variants: 8
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NM_000093.4(COL5A1):c.3259_3366del (p.Ser1088_Gly1123del)
NM_000093.4(COL5A1):c.4339-1delG rs786205102
NM_001278074.1(COL5A1):c.2374C>T (p.Arg792Ter) rs121912933
NM_001278074.1(COL5A1):c.2701-25T>G rs765079080
NM_001278074.1(COL5A1):c.3184C>T (p.Arg1062Ter) rs387906606
NM_001278074.1(COL5A1):c.3752del (p.Pro1251fs) rs786205100
NM_001278074.1(COL5A1):c.3906+3G>T rs786200922
NM_001278074.1(COL5A1):c.655-2A>G rs786205101

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