ClinVar Miner

List of variants in gene COL1A1 reported as likely benign for Connective tissue disorder

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Total variants: 14
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HGVS dbSNP
NM_000088.3(COL1A1):c.21C>G (p.Leu7=)
NM_000088.3(COL1A1):c.2235+15C>T rs754442679
NM_000088.3(COL1A1):c.2422C>A (p.Pro808Thr) rs1215940390
NM_000088.3(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153
NM_000088.3(COL1A1):c.2998A>G (p.Met1000Val)
NM_000088.3(COL1A1):c.3099+7T>C rs201682029
NM_000088.3(COL1A1):c.3102T>C (p.Gly1034=) rs147743501
NM_000088.3(COL1A1):c.3237C>A (p.Gly1079=) rs374853330
NM_000088.3(COL1A1):c.3243T>C (p.Val1081=) rs1800217
NM_000088.3(COL1A1):c.3580G>A (p.Ala1194Thr) rs769571473
NM_000088.3(COL1A1):c.3945C>T (p.Ser1315=) rs766059440
NM_000088.3(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946
NM_000088.3(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928
NM_000088.3(COL1A1):c.904-9G>T rs141726413

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