List of variants in gene COL11A2 reported as likely benign for Otospondylomegaepiphyseal dysplasia, autosomal recessive

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=)	rs41266697	0.00686
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.*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.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.2336C>T (p.Pro779Leu)	rs150877886	0.00153
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.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.3328C>T (p.Pro1110Ser)	rs141164483	0.00012
NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu)	rs201179101	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.4231-4C>G	rs564087840	0.00001
NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln)	rs781633250	0.00001
NM_080680.3(COL11A2):c.*128C>G	rs528560777
NM_080680.3(COL11A2):c.1666-11CCT[2]	rs147815324
NM_080680.3(COL11A2):c.2584-5del	rs555657704

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