ClinVar Miner

List of variants studied for otospondylomegaepiphyseal dysplasia, autosomal dominant by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys) rs758507327 0.00004
NM_080680.3(COL11A2):c.1471C>T (p.Pro491Ser)
NM_080680.3(COL11A2):c.967dup (p.Thr323fs) rs774545390

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