ClinVar Miner

List of variants in gene COL5A1 studied for Inborn genetic diseases

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.1271C>T (p.Thr424Ile)
NM_000093.5(COL5A1):c.305T>C (p.Ile102Thr) rs1554781477
NM_000093.5(COL5A1):c.3313G>A (p.Gly1105Arg)
NM_000093.5(COL5A1):c.3937G>A (p.Glu1313Lys)
NM_000093.5(COL5A1):c.77_85del (p.Leu26_Trp29delinsArg) rs1831316736
NM_000093.5(COL5A1):c.95C>A (p.Pro32His)

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