ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.2403+7A>G rs751913918 0.00003
NM_000089.4(COL1A2):c.1976A>G (p.Glu659Gly) rs766488808 0.00002
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
NC_000007.14:g.(?_94395022)_(94585525_?)dup
NM_000089.4(COL1A2):c.1289G>A (p.Gly430Glu) rs1791913210
NM_000089.4(COL1A2):c.1764+1G>T rs72658140
NM_000089.4(COL1A2):c.1820G>C (p.Gly607Ala) rs1792043985
NM_000089.4(COL1A2):c.2148_2156delinsACGTGG (p.Val717_Pro719delinsArgGly) rs1584326175
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
NM_000089.4(COL1A2):c.433-2A>G rs1554395471

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