ClinVar Miner

List of variants in gene COL1A1 reported by Blueprint Genetics

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.1162_1171delinsAGGT (p.Pro388_Asp391delinsArgTyr) rs2144576880
NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser) rs67507747
NM_000088.4(COL1A1):c.1760G>T (p.Gly587Val) rs72648368
NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser) rs66527965
NM_000088.4(COL1A1):c.2030G>A (p.Gly677Asp) rs2144560786
NM_000088.4(COL1A1):c.2155G>A (p.Gly719Ser) rs72651645
NM_000088.4(COL1A1):c.2263G>C (p.Gly755Arg) rs72651654
NM_000088.4(COL1A1):c.2461G>A (p.Gly821Ser) rs67693970
NM_000088.4(COL1A1):c.2533G>A (p.Gly845Arg) rs72653136
NM_000088.4(COL1A1):c.3235G>A (p.Gly1079Ser) rs72654802
NM_000088.4(COL1A1):c.3300C>T (p.Gly1100=) rs1349721736
NM_000088.4(COL1A1):c.3647A>G (p.Tyr1216Cys) rs1555571849
NM_000088.4(COL1A1):c.3806G>A (p.Trp1269Ter) rs72656341
NM_000088.4(COL1A1):c.436C>A (p.Pro146Thr) rs756846639
NM_000088.4(COL1A1):c.4372G>C (p.Val1458Leu) rs138557594

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