ClinVar Miner

List of variants reported for Osteogenesis imperfecta type III by Department of Medical Sciences, Uppsala University

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.1268G>A (p.Arg423His) rs764780528 0.00005
LRG_2t1:c.(?_-471)_(738+1_739-1)del
NM_000088.4(COL1A1):c.2075G>C (p.Gly692Ala) rs1114167388
NM_000088.4(COL1A1):c.2155G>A (p.Gly719Ser) rs72651645
NM_000088.4(COL1A1):c.2235+1G>A rs1114167390
NM_000088.4(COL1A1):c.2596G>A (p.Gly866Ser) rs67445413
NM_000088.4(COL1A1):c.3118G>A (p.Gly1040Ser) rs72653178
NM_000088.4(COL1A1):c.3208-6C>T rs1114167397
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.4(COL1A1):c.65_70del (p.Gly22_Gln23del) rs1114167409
NM_000089.4(COL1A2):c.1162G>C (p.Gly388Arg) rs1114167412
NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val) rs72658150
NM_000089.4(COL1A2):c.2918G>T (p.Gly973Val) rs67609234
NM_000089.4(COL1A2):c.3008G>A (p.Gly1003Asp) rs1114167414
NM_000089.4(COL1A2):c.3089G>C (p.Gly1030Ala) rs1114167415
NM_000089.4(COL1A2):c.992G>A (p.Gly331Asp) rs67729041

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