ClinVar Miner

Variants in gene COL11A2 with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 41
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu) rs151319255 0.00019
NM_080680.3(COL11A2):c.2017-5T>G rs200523422 0.00018
NM_080680.3(COL11A2):c.4863+7G>A rs200947059 0.00016
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser) rs727504460 0.00013
NM_080680.3(COL11A2):c.4538G>A (p.Arg1513Gln) rs371674362 0.00013
NM_080680.3(COL11A2):c.3328C>T (p.Pro1110Ser) rs141164483 0.00012
NM_080680.3(COL11A2):c.4126C>G (p.Gln1376Glu) rs150784358 0.00012
NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu) rs201179101 0.00011
NM_080680.3(COL11A2):c.1378G>T (p.Gly460Trp) rs200635355 0.00008
NM_080680.3(COL11A2):c.2300A>G (p.Glu767Gly) rs775641112 0.00008
NM_080680.3(COL11A2):c.1498C>T (p.Pro500Ser) rs747029402 0.00007
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=) rs147576338 0.00007
NM_080680.3(COL11A2):c.3101G>A (p.Arg1034His) rs957902805 0.00006
NM_080680.3(COL11A2):c.4057G>A (p.Val1353Met) rs752706766 0.00006
NM_080680.3(COL11A2):c.4541G>A (p.Arg1514His) rs756194499 0.00006
NM_080680.3(COL11A2):c.4705C>T (p.Arg1569Cys) rs727504458 0.00006
NM_080680.3(COL11A2):c.1451C>T (p.Ala484Val) rs143965711 0.00004
NM_080680.3(COL11A2):c.4027G>A (p.Ala1343Thr) rs759017753 0.00004
NM_080680.3(COL11A2):c.4399G>T (p.Ala1467Ser) rs779385536 0.00004
NM_080680.3(COL11A2):c.1381G>T (p.Gly461Cys) rs764998691 0.00003
NM_080680.3(COL11A2):c.1427C>A (p.Ala476Glu) rs373983482 0.00003
NM_080680.3(COL11A2):c.2669C>T (p.Pro890Leu) rs764307090 0.00003
NM_080680.3(COL11A2):c.3173C>T (p.Pro1058Leu) rs562253142 0.00003
NM_080680.3(COL11A2):c.3352C>A (p.Gln1118Lys) rs369849667 0.00003
NM_080680.3(COL11A2):c.752A>T (p.Gln251Leu) rs201399429 0.00002
NM_080680.3(COL11A2):c.914C>T (p.Ser305Leu) rs1049821607 0.00002
NM_080680.3(COL11A2):c.1097C>T (p.Ala366Val) rs534335166 0.00001
NM_080680.3(COL11A2):c.1880G>A (p.Arg627Gln) rs528989984 0.00001
NM_080680.3(COL11A2):c.3182G>A (p.Arg1061Gln) rs528982644 0.00001
NM_080680.3(COL11A2):c.3446A>G (p.Asn1149Ser) rs754703121 0.00001
NM_080680.3(COL11A2):c.3545C>A (p.Pro1182Gln) rs1411737210 0.00001
NM_080680.3(COL11A2):c.4495G>A (p.Glu1499Lys) rs727504543 0.00001
NM_080680.3(COL11A2):c.5121G>T (p.Gln1707His) rs138667578 0.00001
NM_080680.3(COL11A2):c.15C>T (p.Ser5=)
NM_080680.3(COL11A2):c.3343C>T (p.Pro1115Ser) rs372806452
NM_080680.3(COL11A2):c.3622C>G (p.Pro1208Ala) rs374515005
NM_080680.3(COL11A2):c.3743C>T (p.Pro1248Leu)
NM_080680.3(COL11A2):c.3748C>T (p.Pro1250Ser)
NM_080680.3(COL11A2):c.4166C>T (p.Pro1389Leu)
NM_080680.3(COL11A2):c.973G>A (p.Asp325Asn) rs369790491

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