ClinVar Miner

List of variants reported as likely pathogenic for otospondylomegaepiphyseal dysplasia, autosomal dominant

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter) rs911722283 0.00002
NM_080680.3(COL11A2):c.2690del (p.Pro897fs) rs2150555528
NM_080680.3(COL11A2):c.3582+4A>G
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351

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