ClinVar Miner

List of variants in gene COL1A2 reported as likely pathogenic for Ehlers-Danlos syndrome, classic type

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.2035G>A (p.Gly679Ser) rs1584325552
NM_000089.4(COL1A2):c.2810G>A (p.Gly937Asp) rs1584329740
NM_000089.4(COL1A2):c.776G>T (p.Gly259Val) rs1584318648
NM_000089.4(COL1A2):c.809_820del (p.Val270_Ala273del) rs1584318956

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