ClinVar Miner

List of variants in gene COL1A2 reported as pathogenic for Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NC_000007.13:g.(?_94037139)_(94037712_?)dup
NC_000007.13:g.(?_94037139)_(94038155_?)dup
NC_000007.14:g.(?_94395012)_(94395818_?)del
NC_000007.14:g.(?_94395012)_(94399104_?)del
NM_000089.4(COL1A2):c.1289G>A (p.Gly430Glu) rs1791913210
NM_000089.4(COL1A2):c.2215G>A (p.Gly739Arg) rs72658174
NM_000089.4(COL1A2):c.2674-3T>G rs72659303
NM_000089.4(COL1A2):c.3286G>A (p.Gly1096Ser) rs1792308325

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