ClinVar Miner

List of variants in gene COL6A2 reported by Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics

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Total variants: 6
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HGVS dbSNP
NM_001849.3(COL6A2):c.1970-9G>A rs747900252
NM_001849.3(COL6A2):c.2351G>A (p.Arg784His) rs75120695
NM_001849.3(COL6A2):c.2905G>C (p.Val969Leu) rs763443381
NM_001849.3(COL6A2):c.2983G>A (p.Ala995Thr) rs35139588
NM_001849.3(COL6A2):c.316G>A (p.Glu106Lys) rs141703710
NM_001849.3(COL6A2):c.832G>A (p.Glu278Lys) rs61735835

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