ClinVar Miner

List of variants in gene COL6A3 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 7
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HGVS dbSNP
NM_004369.3(COL6A3):c.1613C>T (p.Thr538Met) rs34741387
NM_004369.3(COL6A3):c.3680-5C>T rs370146203
NM_004369.3(COL6A3):c.4888C>T (p.Pro1630Ser) rs145560772
NM_004369.3(COL6A3):c.6211-9del rs1280994015
NM_004369.3(COL6A3):c.776C>T (p.Ala259Val) rs149924028
NM_004369.3(COL6A3):c.8009C>T (p.Ala2670Val) rs142851023
NM_004369.3(COL6A3):c.973G>A (p.Ala325Thr) rs905662421

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