ClinVar Miner

List of variants reported as pathogenic for Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001369268.1(ACAN):c.7178T>C (p.Leu2393Pro)	rs1555457513
NM_001369268.1(ACAN):c.7204C>T (p.Gln2402Ter)	rs1555457525
NM_001369268.1(ACAN):c.7363G>A (p.Val2455Met)	rs267606625

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