ClinVar Miner

List of variants in gene COL11A2 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.3615C>A (p.Asn1205Lys) rs141967872 0.00553
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro) rs41268014 0.00213
NM_080680.3(COL11A2):c.4458T>A (p.Gly1486=) rs143186319 0.00204
NM_080680.3(COL11A2):c.329G>A (p.Arg110Gln) rs145960317 0.00168
NM_080680.3(COL11A2):c.390G>C (p.Arg130=) rs149638770 0.00163
NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu) rs150877886 0.00153
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.5160C>G (p.Ala1720=) rs139647701 0.00083
NM_080680.3(COL11A2):c.4015-8T>C rs377001136 0.00082
NM_080680.3(COL11A2):c.2266A>C (p.Arg756=) rs138083769 0.00071
NM_080680.3(COL11A2):c.2682G>A (p.Pro894=) rs113067047 0.00068
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp) rs141430703 0.00054
NM_080680.3(COL11A2):c.480T>G (p.Ser160=) rs142969513 0.00044
NM_080680.3(COL11A2):c.1720-4G>T rs369678506 0.00041
NM_080680.3(COL11A2):c.2187G>C (p.Arg729=) rs551411073 0.00032
NM_080680.3(COL11A2):c.882C>T (p.Pro294=) rs566296770 0.00032
NM_080680.3(COL11A2):c.1998C>T (p.Ile666=) rs373989427 0.00029
NM_080680.3(COL11A2):c.4950C>T (p.Asp1650=) rs372110441 0.00024
NM_080680.3(COL11A2):c.233-8G>T rs375268140 0.00019
NM_080680.3(COL11A2):c.2017-5T>G rs200523422 0.00018
NM_080680.3(COL11A2):c.4860G>A (p.Thr1620=) rs200099239 0.00015
NM_080680.3(COL11A2):c.3654A>G (p.Ser1218=) rs146962984 0.00014
NM_080680.3(COL11A2):c.2928G>A (p.Gly976=) rs147004824 0.00013
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser) rs727504460 0.00013
NM_080680.3(COL11A2):c.1698C>T (p.Leu566=) rs139350991 0.00012
NM_080680.3(COL11A2):c.813C>T (p.Leu271=) rs143505163 0.00012
NM_080680.3(COL11A2):c.798+38C>A rs200989046 0.00010
NM_080680.3(COL11A2):c.3021G>A (p.Pro1007=) rs370652074 0.00009
NM_080680.3(COL11A2):c.4392C>T (p.Pro1464=) rs372419316 0.00009
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=) rs147576338 0.00007
NM_080680.3(COL11A2):c.4428+8A>T rs561983176 0.00007
NM_080680.3(COL11A2):c.2268+8G>A rs373463428 0.00006
NM_080680.3(COL11A2):c.2271C>T (p.Gly757=) rs745568808 0.00006
NM_080680.3(COL11A2):c.3583-3C>T rs727502939 0.00006
NM_080680.3(COL11A2):c.4107G>A (p.Gly1369=) rs368543321 0.00006
NM_080680.3(COL11A2):c.4545G>A (p.Ser1515=) rs367885056 0.00005
NM_080680.3(COL11A2):c.579C>T (p.Ala193=) rs201054429 0.00005
NM_080680.3(COL11A2):c.4026C>T (p.Gly1342=) rs778423110 0.00004
NM_080680.3(COL11A2):c.5028G>A (p.Pro1676=) rs144290562 0.00004
NM_080680.3(COL11A2):c.1119C>T (p.Ala373=) rs753417704 0.00003
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.4641C>T (p.Leu1547=) rs758306963 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.5113C>T (p.Leu1705=) rs367748056 0.00002
NM_080680.3(COL11A2):c.144G>A (p.Arg48=) rs373983197 0.00001
NM_080680.3(COL11A2):c.1443G>C (p.Ala481=) rs146421083
NM_080680.3(COL11A2):c.1923C>G (p.Pro641=)
NM_080680.3(COL11A2):c.1980C>T (p.Pro660=) rs2229786
NM_080680.3(COL11A2):c.201G>A (p.Gln67=)
NM_080680.3(COL11A2):c.2529G>A (p.Thr843=)
NM_080680.3(COL11A2):c.2584-5del rs555657704
NM_080680.3(COL11A2):c.2709G>A (p.Pro903=) rs779878105
NM_080680.3(COL11A2):c.2820G>A (p.Gly940=)
NM_080680.3(COL11A2):c.30C>G (p.Leu10=)
NM_080680.3(COL11A2):c.3150+8T>G
NM_080680.3(COL11A2):c.3259-4C>G
NM_080680.3(COL11A2):c.3531A>G (p.Gly1177=) rs530771165
NM_080680.3(COL11A2):c.3583-7C>T
NM_080680.3(COL11A2):c.3906+7G>A
NM_080680.3(COL11A2):c.4231-4C>A
NM_080680.3(COL11A2):c.4599C>G (p.Ala1533=)
NM_080680.3(COL11A2):c.45T>G (p.Pro15=)
NM_080680.3(COL11A2):c.4864-32_4864-7del rs767389906
NM_080680.3(COL11A2):c.4864-58CCCTCTGAGGCCAGCCCTCTCTCTCC[3] rs767389906
NM_080680.3(COL11A2):c.5131C>T (p.Leu1711=)
NM_080680.3(COL11A2):c.792G>A (p.Gln264=) rs376441071
NM_080680.3(COL11A2):c.960C>T (p.Val320=)
NM_080680.3(COL11A2):c.966C>A (p.Pro322=) rs147527758

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