ClinVar Miner

List of variants in gene COL1A1 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.1003-1G>A rs72645361
NM_000088.4(COL1A1):c.133_134delinsG (p.Leu45fs) rs2144594672
NM_000088.4(COL1A1):c.2048G>A (p.Gly683Asp) rs1598292524
NM_000088.4(COL1A1):c.235_245del (p.Lys79fs) rs1907925754
NM_000088.4(COL1A1):c.2667+1G>A rs72653150

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