ClinVar Miner

List of variants in gene COL1A1 reported by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

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Total variants: 7
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HGVS dbSNP
NM_000088.3(COL1A1):c.1678G>A (p.Gly560Ser) rs67507747
NM_000088.3(COL1A1):c.1929+1G>A rs1555573313
NM_000088.3(COL1A1):c.386dup (p.Gly130Trpfs) rs72667014
NM_000088.3(COL1A1):c.3935G>A (p.Trp1312Ter) rs886039880
NM_000088.3(COL1A1):c.769G>A (p.Gly257Arg) rs72645321
NM_000088.3(COL1A1):c.77G>A (p.Gly26Asp)
NM_000088.3:c.2586del

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