ClinVar Miner

List of variants in gene COL11A2 reported as likely benign for Connective tissue disorder

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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.3860A>G (p.Asp1287Gly) rs142962835 0.00515
NM_080680.3(COL11A2):c.*4C>T rs186720023 0.00230
NM_080680.3(COL11A2):c.3583-5T>C rs183536190 0.00219
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro) rs41268014 0.00213
NM_080680.3(COL11A2):c.4521G>A (p.Gln1507=) rs114580597 0.00182
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.688G>T (p.Gly230Trp) rs141430703 0.00054
NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln) rs1799912 0.00052
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp) rs141140798 0.00045
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser) rs35116188 0.00044
NM_080680.3(COL11A2):c.230C>A (p.Pro77Gln) rs35765893 0.00026
NM_080680.3(COL11A2):c.2757C>T (p.Gly919=) rs34478777 0.00026
NM_080680.3(COL11A2):c.5071-5T>G rs368309085 0.00026
NM_080680.3(COL11A2):c.4950C>T (p.Asp1650=) rs372110441 0.00024
NM_080680.3(COL11A2):c.2017-5T>G rs200523422 0.00018
NM_080680.3(COL11A2):c.2254G>A (p.Val752Met) rs201076557 0.00016
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val) rs376797260 0.00016
NM_080680.3(COL11A2):c.813C>T (p.Leu271=) rs143505163 0.00012
NM_080680.3(COL11A2):c.1817C>T (p.Ser606Leu) rs147328015 0.00010
NM_080680.3(COL11A2):c.2271C>T (p.Gly757=) rs745568808 0.00006
NM_080680.3(COL11A2):c.2560G>A (p.Ala854Thr) rs371864924 0.00006
NM_080680.3(COL11A2):c.3950T>C (p.Leu1317Pro) rs145871842 0.00006
NM_080680.3(COL11A2):c.4662C>T (p.Ile1554=) rs375518774 0.00005
NM_080680.3(COL11A2):c.3974C>T (p.Ser1325Leu) rs543145528 0.00004
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile) rs375937729 0.00004
NM_080680.3(COL11A2):c.1612-16T>A rs530508572 0.00003
NM_080680.3(COL11A2):c.1446+19C>T rs368415304 0.00002
NM_080680.3(COL11A2):c.1284+8G>A rs1161495896 0.00001
NM_080680.3(COL11A2):c.2589A>C (p.Thr863=) rs1398934546 0.00001
NM_080680.3(COL11A2):c.3475-19G>A rs755564454 0.00001
NM_080680.3(COL11A2):c.1359+17del rs765250820
NM_080680.3(COL11A2):c.1479A>T (p.Gly493=) rs1554221287
NM_080680.3(COL11A2):c.2220G>A (p.Glu740=) rs202032297
NM_080680.3(COL11A2):c.3111G>A (p.Pro1037=) rs146093235
NM_080680.3(COL11A2):c.4750+19G>T rs1046161149
NM_080680.3(COL11A2):c.4854C>T (p.Asp1618=) rs151319255
NM_080680.3(COL11A2):c.91C>T (p.Pro31Ser) rs1554226286
NM_080680.3(COL11A2):c.966C>A (p.Pro322=) rs147527758

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