ClinVar Miner

List of variants in gene COL1A1 studied for Osteogenesis imperfecta with normal sclerae, dominant form

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Total variants: 19
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HGVS dbSNP
NM_000088.3(COL1A1):c.1057G>A (p.Gly353Ser) rs66721653
NM_000088.3(COL1A1):c.1057G>T (p.Gly353Cys) rs66721653
NM_000088.3(COL1A1):c.1201G>A (p.Gly401Ser) rs72648322
NM_000088.3(COL1A1):c.1299+1G>C
NM_000088.3(COL1A1):c.1845_1847del (p.Glu615_Ala616delinsAsp) rs72651618
NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter) rs72651642
NM_000088.3(COL1A1):c.2110G>T (p.Gly704Cys) rs67368147
NM_000088.3(COL1A1):c.2335G>A (p.Gly779Ser) rs72651661
NM_000088.3(COL1A1):c.2461G>A (p.Gly821Ser) rs67693970
NM_000088.3(COL1A1):c.2515G>A (p.Gly839Ser) rs72653131
NM_000088.3(COL1A1):c.2523del (p.Gly842fs)
NM_000088.3(COL1A1):c.3028G>A (p.Gly1010Ser) rs72653169
NM_000088.3(COL1A1):c.3655G>A (p.Asp1219Asn) rs72656338
NM_000088.3(COL1A1):c.3815G>T (p.Gly1272Val) rs1114167402
NM_000088.3(COL1A1):c.3897C>G (p.Cys1299Trp) rs34940368
NM_000088.3(COL1A1):c.4239T>A (p.Asp1413Glu) rs754555549
NM_000088.3(COL1A1):c.4292C>T (p.Thr1431Ile) rs1114167403
NM_000088.3(COL1A1):c.642+1G>A
NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg) rs72645357

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