ClinVar Miner

List of variants in gene COL5A2 reported by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Gene type:
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Total variants: 5
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HGVS dbSNP
NM_000393.5(COL5A2):c.1006-8G>A rs200405052
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=) rs933589600
NM_000393.5(COL5A2):c.798+5G>A rs1296613540
NM_000393.5(COL5A2):c.875C>T (p.Ala292Val) rs1211991688

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