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:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.1257C>T (p.Ala419=) rs41272837 0.01731
NM_000090.4(COL3A1):c.583-8C>T rs10166835 0.00660
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773 0.00584
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890 0.00503
NM_000090.4(COL3A1):c.2022+5T>C rs41263765 0.00448
NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=) rs35759441 0.00430
NM_000090.4(COL3A1):c.1659T>A (p.Pro553=) rs41263751 0.00412
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=) rs41263757 0.00240
NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val) rs2271683 0.00239
NM_000090.4(COL3A1):c.2056C>G (p.Pro686Ala) rs41263775 0.00146
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe) rs111391222 0.00061
NM_000090.4(COL3A1):c.1815+5G>A rs146652498 0.00034
NM_000090.4(COL3A1):c.3642C>A (p.Gly1214=) rs184402915 0.00029
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_000090.4(COL3A1):c.1977+9C>T rs184223621 0.00021
NM_000090.4(COL3A1):c.2700C>T (p.Gly900=) rs112164939 0.00016
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440 0.00006
NM_000090.4(COL3A1):c.898-5T>C rs535434618 0.00006
NM_000090.4(COL3A1):c.1348-4del rs758567906
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183

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