ClinVar Miner

List of variants in gene COL3A1 reported as benign by CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario

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Gene type:
ClinVar version:
Total variants: 14
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NM_000090.3(COL3A1):c.1659T>A (p.Pro553=) rs41263751
NM_000090.3(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890
NM_000090.3(COL3A1):c.1977+9C>T rs184223621
NM_000090.3(COL3A1):c.2022+5T>C rs41263765
NM_000090.3(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773
NM_000090.3(COL3A1):c.2445T>G (p.Pro815=) rs199727625
NM_000090.3(COL3A1):c.2700C>T (p.Gly900=) rs112164939
NM_000090.3(COL3A1):c.3654G>T (p.Pro1218=) rs35759441
NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) rs111391222
NM_000090.3(COL3A1):c.583-8C>T rs10166835
NM_000090.3(COL3A1):c.898-5T>C rs535434618
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val) rs2271683
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783

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