ClinVar Miner

List of variants studied for Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans by 3billion, Medical Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001369268.1(ACAN):c.132del (p.Thr45fs)
NM_001369268.1(ACAN):c.2783G>A (p.Trp928Ter)
NM_001369268.1(ACAN):c.301C>T (p.Gln101Ter) rs2141563841
NM_001369268.1(ACAN):c.5766T>G (p.Tyr1922Ter)

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