ClinVar Miner

List of variants in gene COL5A1 reported as uncertain significance by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 6
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NM_000093.4(COL5A1):c.2030A>T (p.Glu677Val) rs1564443811
NM_000093.4(COL5A1):c.2354C>T (p.Pro785Leu) rs760539229
NM_000093.4(COL5A1):c.3204+3G>A rs202054108
NM_000093.4(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_000093.4(COL5A1):c.4068+7G>A rs587780905
NM_000093.4(COL5A1):c.583G>A (p.Asp195Asn) rs781248560

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