ClinVar Miner

List of variants in gene COL1A1 studied for Osteogenesis imperfecta type III

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Total variants: 18
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HGVS dbSNP
COL1A1, 562-BP DEL
COL1A1, EX22DEL
NM_000088.3(COL1A1):c.1588G>A (p.Gly530Ser) rs67682641
NM_000088.3(COL1A1):c.2075G>C (p.Gly692Ala) rs1114167388
NM_000088.3(COL1A1):c.2110G>T (p.Gly704Cys) rs67368147
NM_000088.3(COL1A1):c.2155G>A (p.Gly719Ser) rs72651645
NM_000088.3(COL1A1):c.2235+1G>A rs1114167390
NM_000088.3(COL1A1):c.2515G>A (p.Gly839Ser) rs72653131
NM_000088.3(COL1A1):c.2596G>A (p.Gly866Ser) rs67445413
NM_000088.3(COL1A1):c.3064G>A (p.Gly1022Ser) rs66523073
NM_000088.3(COL1A1):c.3118G>A (p.Gly1040Ser) rs72653178
NM_000088.3(COL1A1):c.3208-6C>T rs1114167397
NM_000088.3(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.3(COL1A1):c.3443G>A (p.Gly1148Asp) rs1131692320
NM_000088.3(COL1A1):c.4391T>C (p.Leu1464Pro) rs72656353
NM_000088.3(COL1A1):c.65_70del (p.Gly22_Gln23del) rs1114167409
NM_000088.3(COL1A1):c.761G>A (p.Gly254Glu) rs72645320
NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg) rs72645357

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