ClinVar Miner

List of variants reported as pathogenic for Desbuquois dysplasia 1; Epiphyseal dysplasia, multiple, 7 by Fulgent Genetics, Fulgent Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001159773.2(CANT1):c.228dup (p.Trp77fs)	rs587776896	0.00006
NM_001159773.2(CANT1):c.676G>A (p.Val226Met)	rs377546036	0.00004
NM_001159773.2(CANT1):c.836-9G>A	rs538543007	0.00001

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