ClinVar Miner

List of variants in gene COL1A1 reported as uncertain significance by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_000088.4(COL1A1):c.1062A>T (p.Glu354Asp) rs778733293 0.00002
NM_000088.4(COL1A1):c.1387G>A (p.Ala463Thr) rs1555573895
NM_000088.4(COL1A1):c.1456G>A (p.Glu486Lys) rs1171968124
NM_000088.4(COL1A1):c.361G>T (p.Gly121Cys) rs904057644
NM_000088.4(COL1A1):c.3778C>T (p.Arg1260Cys) rs1555571800

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