ClinVar Miner

List of variants reported as likely pathogenic for Heart, malformation of; Thickened nuchal skin fold; Cystic hygroma; Short long bone by Center for Reproductive Medicine, Peking University Third Hospital

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_080680.3(COL11A2):c.966dup (p.Thr323fs)	rs748440351

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