ClinVar Miner

List of variants in gene COL11A2 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697 0.00686
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.4521G>A (p.Gln1507=) rs114580597 0.00182
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_080680.3(COL11A2):c.4383C>T (p.Pro1461=) rs148262058 0.00155
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.3576C>T (p.Gly1192=) rs138380958 0.00110
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His) rs146555195 0.00103
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln) rs145343609 0.00077
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp) rs141140798 0.00045
NM_080680.3(COL11A2):c.480T>G (p.Ser160=) rs142969513 0.00044
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser) rs35116188 0.00044
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln) rs147927477 0.00031
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.4651C>T (p.Arg1551Trp) rs141254777 0.00021
NM_080680.3(COL11A2):c.233-8G>T rs375268140 0.00019
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu) rs151319255 0.00019
NM_080680.3(COL11A2):c.2254G>A (p.Val752Met) rs201076557 0.00016
NM_080680.3(COL11A2):c.3654A>G (p.Ser1218=) rs146962984 0.00014
NM_080680.3(COL11A2):c.1698C>T (p.Leu566=) rs139350991 0.00012
NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe) rs188490457 0.00011
NM_080680.3(COL11A2):c.2417G>A (p.Arg806His) rs200552277 0.00010
NM_080680.3(COL11A2):c.798+38C>A rs200989046 0.00010
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.1188C>T (p.Leu396=) rs532305958 0.00006
NM_080680.3(COL11A2):c.4545G>A (p.Ser1515=) rs367885056 0.00005
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952 0.00004
NM_080680.3(COL11A2):c.1363C>T (p.Arg455Trp) rs144862714 0.00003
NM_080680.3(COL11A2):c.1607G>A (p.Arg536Gln) rs770888294 0.00003
NM_080680.3(COL11A2):c.2495G>A (p.Gly832Glu) rs750006299 0.00003
NM_080680.3(COL11A2):c.107G>A (p.Arg36Gln) rs757584689 0.00001
NM_080680.3(COL11A2):c.239T>C (p.Phe80Ser) rs1459651793 0.00001
NM_080680.3(COL11A2):c.300C>G (p.Leu100=) rs773467866 0.00001
NM_080680.3(COL11A2):c.3392G>A (p.Arg1131Gln) rs529015303 0.00001
NM_080680.3(COL11A2):c.4748A>G (p.Asp1583Gly) rs779832829 0.00001
NM_080680.3(COL11A2):c.5152C>A (p.Leu1718Met) rs1413052565 0.00001
NM_080680.3(COL11A2):c.939+1G>A rs750173113 0.00001
GRCh37/hg19 6p21.32(chr6:33131455-33139880)x3
NM_080680.3(COL11A2):c.1879C>T (p.Arg627Ter) rs374156844
NM_080680.3(COL11A2):c.2081_2085delinsA (p.Gly694fs) rs886044584
NM_080680.3(COL11A2):c.2584-5del rs555657704
NM_080680.3(COL11A2):c.2755G>A (p.Gly919Ser)
NM_080680.3(COL11A2):c.2761C>T (p.Pro921Ser) rs1416503874
NM_080680.3(COL11A2):c.2813C>T (p.Pro938Leu) rs2150552323
NM_080680.3(COL11A2):c.2979A>G (p.Pro993=)
NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys) rs121912947
NM_080680.3(COL11A2):c.3118C>G (p.Pro1040Ala) rs759919085
NM_080680.3(COL11A2):c.3528+5G>T
NM_080680.3(COL11A2):c.4123-1G>T rs2150524851
NM_080680.3(COL11A2):c.4220del (p.Lys1407fs) rs1562312539
NM_080680.3(COL11A2):c.4323G>A (p.Gly1441=) rs1476202918
NM_080680.3(COL11A2):c.4437C>T (p.Gly1479=)
NM_080680.3(COL11A2):c.4438G>A (p.Gly1480Arg) rs1172866556
NM_080680.3(COL11A2):c.460G>A (p.Val154Met)
NM_080680.3(COL11A2):c.4G>A (p.Glu2Lys)
NM_080680.3(COL11A2):c.982C>T (p.Gln328Ter) rs1554223504

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