ClinVar Miner

List of variants in gene COL3A1 studied for POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME

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Total variants: 5
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HGVS dbSNP
NM_000090.3(COL3A1):c.1282C>T (p.Arg428Ter)
NM_000090.3(COL3A1):c.1786C>T (p.Arg596Ter) rs587779527
NM_000090.3(COL3A1):c.2057del (p.Pro686fs) rs1559058482
NM_000090.3(COL3A1):c.3851G>A (p.Gly1284Glu) rs587779528
NM_000090.3(COL3A1):c.479dup (p.Lys161fs) rs397509377

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