ClinVar Miner

List of variants in gene COL6A1 reported as benign by Genetic Services Laboratory, University of Chicago

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Total variants: 11
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HGVS dbSNP
NM_001848.2(COL6A1):c.-5C>G rs7671
NM_001848.2(COL6A1):c.1095T>C (p.Gly365=) rs1980982
NM_001848.2(COL6A1):c.1273-8C>T rs7280215
NM_001848.2(COL6A1):c.1314G>A (p.Thr438=) rs7279254
NM_001848.2(COL6A1):c.1612-6C>T rs143812383
NM_001848.2(COL6A1):c.1773G>A (p.Pro591=) rs74852641
NM_001848.2(COL6A1):c.1823-8G>A rs184666690
NM_001848.2(COL6A1):c.2517C>T (p.Ser839=) rs141463437
NM_001848.2(COL6A1):c.2549G>A (p.Arg850His) rs1053312
NM_001848.2(COL6A1):c.2669C>T (p.Ser890Leu) rs13051496
NM_001848.2(COL6A1):c.2796C>T (p.Ser932=) rs1053320

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