ClinVar Miner

List of variants in gene COL11A2 reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro) rs41268014 0.00213
NM_080680.3(COL11A2):c.2115+7T>C rs186051366 0.00185
NM_080680.3(COL11A2):c.1774-9C>T rs148243956 0.00178
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_080680.3(COL11A2):c.4683A>G (p.Thr1561=) rs34055850 0.00113
NM_080680.3(COL11A2):c.1612-10G>C rs182657680 0.00112
NM_080680.3(COL11A2):c.3576C>T (p.Gly1192=) rs138380958 0.00110
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His) rs146555195 0.00103
NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln) rs142890313 0.00089
NM_080680.3(COL11A2):c.5160C>G (p.Ala1720=) rs139647701 0.00083
NM_080680.3(COL11A2):c.4015-8T>C rs377001136 0.00082
NM_080680.3(COL11A2):c.2431-11G>A rs368695514 0.00048
NM_080680.3(COL11A2):c.480T>G (p.Ser160=) rs142969513 0.00044
NM_080680.3(COL11A2):c.2064A>G (p.Gly688=) rs753871660 0.00038
NM_080680.3(COL11A2):c.4590C>T (p.Thr1530=) rs375329541 0.00014
NM_080680.3(COL11A2):c.2928G>A (p.Gly976=) rs147004824 0.00013
NM_080680.3(COL11A2):c.1287C>T (p.Gly429=) rs549704545 0.00012
NM_080680.3(COL11A2):c.1179+8A>T rs773318336 0.00010
NM_080680.3(COL11A2):c.2628+14G>A rs559123089 0.00009
NM_080680.3(COL11A2):c.4872C>T (p.Tyr1624=) rs372250466 0.00009
NM_080680.3(COL11A2):c.106C>T (p.Arg36Trp) rs118097056 0.00007
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=) rs147576338 0.00007
NM_080680.3(COL11A2):c.1188C>T (p.Leu396=) rs532305958 0.00006
NM_080680.3(COL11A2):c.2178C>T (p.Asp726=) rs138650682 0.00006
NM_080680.3(COL11A2):c.4545G>A (p.Ser1515=) rs367885056 0.00005
NM_080680.3(COL11A2):c.4026C>T (p.Gly1342=) rs778423110 0.00004
NM_080680.3(COL11A2):c.1716T>C (p.His572=) rs533884328 0.00003
NM_080680.3(COL11A2):c.4206C>T (p.Gly1402=) rs201642192 0.00003
NM_080680.3(COL11A2):c.5166G>A (p.Pro1722=) rs768399249 0.00003
NM_080680.3(COL11A2):c.1968C>T (p.Thr656=) rs766534015 0.00002
NM_080680.3(COL11A2):c.3529-3C>T rs753183777 0.00002
NM_080680.3(COL11A2):c.4751-9A>G rs555680585 0.00002
NM_080680.3(COL11A2):c.5106G>A (p.Thr1702=) rs752823488 0.00002
NM_080680.3(COL11A2):c.1005T>A (p.Gly335=) rs1288780147 0.00001
NM_080680.3(COL11A2):c.2808C>T (p.Thr936=) rs775487504 0.00001
NM_080680.3(COL11A2):c.3531A>C (p.Gly1177=) rs530771165 0.00001
NM_080680.3(COL11A2):c.3878G>A (p.Arg1293Gln) rs727504832 0.00001
NM_080680.3(COL11A2):c.3945G>A (p.Gly1315=) rs1321962760 0.00001
NM_080680.3(COL11A2):c.4797C>T (p.Phe1599=) rs1455846667 0.00001
NM_080680.3(COL11A2):c.5088G>A (p.Thr1696=) rs142893093 0.00001
NM_080680.3(COL11A2):c.2529+13del rs763299239
NM_080680.3(COL11A2):c.2584-5del rs555657704
NM_080680.3(COL11A2):c.2629-15dup rs727502942
NM_080680.3(COL11A2):c.3531A>G (p.Gly1177=) rs530771165
NM_080680.3(COL11A2):c.799-13C>T rs876657443
NM_080680.3(COL11A2):c.799-4C>A rs111227109
NM_080680.3(COL11A2):c.966C>A (p.Pro322=) rs147527758

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