ClinVar Miner

List of variants in gene COL1A1 reported as likely pathogenic for not specified

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.1157G>A (p.Gly386Glu) rs1555574123
NM_000088.4(COL1A1):c.1363G>A (p.Gly455Ser) rs72648339
NM_000088.4(COL1A1):c.1715G>C (p.Gly572Ala) rs1598295066
NM_000088.4(COL1A1):c.2769TCCCCCTGG[1] (p.925PGP[1]) rs1555572458
NM_000088.4(COL1A1):c.4316T>C (p.Ile1439Thr) rs1555571536

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