ClinVar Miner

List of variants in gene COL6A1 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 10
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HGVS dbSNP
NM_001848.2(COL6A1):c.1043C>T (p.Ser348Leu) rs142882745
NM_001848.2(COL6A1):c.1611C>T (p.Asn537=) rs200023632
NM_001848.2(COL6A1):c.2045G>A (p.Arg682Gln) rs148962954
NM_001848.2(COL6A1):c.2642C>T (p.Thr881Met) rs150432347
NM_001848.2(COL6A1):c.2873C>A (p.Ala958Asp) rs763228065
NM_001848.2(COL6A1):c.349G>A (p.Val117Met) rs150686304
NM_001848.2(COL6A1):c.931-5C>T rs371841573
NM_001848.3(COL6A1):c.1313C>T (p.Thr438Met) rs376807461
NM_001848.3(COL6A1):c.2041A>G (p.Ile681Val) rs377455608
NM_001848.3(COL6A1):c.428+5G>A rs1603589628

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