ClinVar Miner

List of variants in gene COL3A1 reported as likely pathogenic by Baylor Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.3158G>A (p.Gly1053Asp) rs1576471840
NM_000090.4(COL3A1):c.3496C>T (p.Arg1166Ter) rs587779646
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_000090.4(COL3A1):c.4254G>A (p.Thr1418=) rs587779565
NM_000090.4(COL3A1):c.953G>A (p.Gly318Asp) rs1553507614

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