ClinVar Miner

List of variants in gene COL3A1 reported as benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=) rs1801184 0.27758
NM_000090.4(COL3A1):c.1978-11C>T rs13306272 0.23521
NM_000090.4(COL3A1):c.*799_*800del rs13306265 0.23375
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255 0.21080
NM_000090.4(COL3A1):c.1816-14G>C rs7579815 0.15982
NM_000090.4(COL3A1):c.1851G>A (p.Gln617=) rs7579903 0.15955
NM_000090.4(COL3A1):c.1293+15T>A rs2271679 0.13320
NM_000090.4(COL3A1):c.*43A>G rs8224 0.02368
NM_000090.4(COL3A1):c.1257C>T (p.Ala419=) rs41272837 0.01840
NM_000090.4(COL3A1):c.1770T>C (p.Pro590=) rs80302667 0.01481
NM_000090.4(COL3A1):c.*34T>G rs191843385 0.00838
NM_000090.4(COL3A1):c.583-8C>T rs10166835 0.00713
NM_000090.4(COL3A1):c.*88C>T rs11162 0.00708
NM_000090.4(COL3A1):c.*592T>A rs115345151 0.00630
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773 0.00608
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890 0.00513
NM_000090.4(COL3A1):c.-80G>A rs41265575 0.00470
NM_000090.4(COL3A1):c.2022+5T>C rs41263765 0.00448
NM_000090.4(COL3A1):c.1659T>A (p.Pro553=) rs41263751 0.00443
NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=) rs35759441 0.00430
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=) rs41263757 0.00244
NM_000090.4(COL3A1):c.*828G>T rs372150712 0.00194
NM_000090.4(COL3A1):c.*674G>A rs190903102 0.00185
NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val) rs2271683 0.00158
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_000090.3(COL3A1):c.-118T>G rs549951495 0.00069
NM_000090.4(COL3A1):c.114C>G (p.Ser38=) rs141241764 0.00054
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_000090.4(COL3A1):c.*622T>C rs572369155 0.00024
NM_000090.4(COL3A1):c.1815+5G>A rs146652498 0.00023
NM_000090.4(COL3A1):c.1977+9C>T rs184223621 0.00021
NM_000090.4(COL3A1):c.799-11A>T rs200148262 0.00021
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=) rs111567071 0.00018
NM_000090.4(COL3A1):c.3413C>T (p.Pro1138Leu) rs201880122 0.00014
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380 0.00014
NM_000090.4(COL3A1):c.1697C>T (p.Pro566Leu) rs150543864 0.00011
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp) rs142045411 0.00011
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075 0.00011
NM_000090.4(COL3A1):c.3775G>A (p.Ala1259Thr) rs776478974 0.00010
NM_000090.4(COL3A1):c.1995C>T (p.Ala665=) rs149093989 0.00006
NM_000090.4(COL3A1):c.217G>C (p.Asp73His) rs200246388 0.00006
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440 0.00006
NM_000090.4(COL3A1):c.3390C>T (p.Ile1130=) rs148918486 0.00006
NM_000090.4(COL3A1):c.898-5T>C rs535434618 0.00006
NM_000090.4(COL3A1):c.1347C>T (p.Arg449=) rs755731385 0.00003
NM_000090.4(COL3A1):c.3132C>T (p.Gly1044=) rs369992399 0.00003
NM_000090.4(COL3A1):c.2958C>T (p.Asn986=) rs41264441 0.00002
NM_000090.4(COL3A1):c.1509+7A>C rs201740954 0.00001
NM_000090.4(COL3A1):c.515A>C (p.Tyr172Ser) rs771654029 0.00001
NM_000090.4(COL3A1):c.80-13A>C rs566189676 0.00001
NM_000090.4(COL3A1):c.*354C>T rs41265555
NM_000090.4(COL3A1):c.1509+5A>G rs572863064
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.2493T>C (p.Gly831=) rs551541918
NM_000090.4(COL3A1):c.2723C>T (p.Ala908Val) rs144036995
NM_000090.4(COL3A1):c.3966G>A (p.Glu1322=) rs560861999

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