ClinVar Miner

List of variants reported as likely benign for otospondylomegaepiphyseal dysplasia, autosomal dominant by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.-200G>A rs144092339 0.02950
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu) rs2229792 0.01881
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697 0.00686
NM_080680.3(COL11A2):c.1098G>A (p.Ala366=) rs73741539 0.00672
NM_080680.3(COL11A2):c.3615C>A (p.Asn1205Lys) rs141967872 0.00553
NM_080680.3(COL11A2):c.3860A>G (p.Asp1287Gly) rs142962835 0.00515
NM_080680.2(COL11A2):c.-241G>A rs533843327 0.00469
NM_080680.3(COL11A2):c.*119G>A rs183458493 0.00358
NM_080680.3(COL11A2):c.2520G>A (p.Arg840=) rs117237998 0.00345
NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln) rs61730262 0.00339
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.4041G>A (p.Pro1347=) rs139283268 0.00212
NM_080680.3(COL11A2):c.4458T>A (p.Gly1486=) rs143186319 0.00204
NM_080680.3(COL11A2):c.4392+12C>T rs117267045 0.00186
NM_080680.3(COL11A2):c.4521G>A (p.Gln1507=) rs114580597 0.00182
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.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.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.4652G>A (p.Arg1551Gln) rs145343609 0.00077
NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp) rs2229790 0.00055
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp) rs141430703 0.00054
NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=) rs151098305 0.00052
NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln) rs1799912 0.00052
NM_080680.3(COL11A2):c.4265C>T (p.Pro1422Leu) rs555936333 0.00036
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.*925G>A rs117470046 0.00021
NM_080680.3(COL11A2):c.1873-14A>G rs149099562 0.00021
NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp) rs141254777 0.00021
NM_080680.3(COL11A2):c.*822C>G rs536130072 0.00015
NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu) rs534570825 0.00014
NM_080680.3(COL11A2):c.1287C>T (p.Gly429=) rs549704545 0.00012
NM_080680.3(COL11A2):c.3328C>T (p.Pro1110Ser) rs141164483 0.00012
NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu) rs201179101 0.00011
NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe) rs188490457 0.00011
NM_080680.3(COL11A2):c.4080G>A (p.Gly1360=) rs537455619 0.00010
NM_080680.3(COL11A2):c.4872C>T (p.Tyr1624=) rs372250466 0.00009
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=) rs147576338 0.00007
NM_080680.3(COL11A2):c.2684G>C (p.Gly895Ala) rs555936455 0.00006
NM_080680.3(COL11A2):c.3092C>T (p.Pro1031Leu) rs528009333 0.00006
NM_080680.3(COL11A2):c.2735T>C (p.Val912Ala) rs548592690 0.00005
NM_080680.3(COL11A2):c.4586C>T (p.Pro1529Leu) rs201315111 0.00004
NM_080680.3(COL11A2):c.1381G>T (p.Gly461Cys) rs764998691 0.00003
NM_080680.3(COL11A2):c.-82C>G rs539232957 0.00002
NM_080680.3(COL11A2):c.4751-9A>G rs555680585 0.00002
NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly) rs568840295 0.00002
NM_080680.3(COL11A2):c.752A>T (p.Gln251Leu) rs201399429 0.00002
NM_080680.3(COL11A2):c.2215-11A>G rs557236389 0.00001
NM_080680.3(COL11A2):c.*128C>G rs528560777
NM_080680.3(COL11A2):c.*706G>T rs548143581
NM_080680.3(COL11A2):c.1666-11CCT[2] rs147815324
NM_080680.3(COL11A2):c.1818+15G>A rs549588854
NM_080680.3(COL11A2):c.2584-5del rs555657704
NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=) rs146093235

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