ClinVar Miner

List of variants in gene COL3A1 reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=) rs376643618 0.00001
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.3417+1G>A rs587779444

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