ClinVar Miner

List of variants studied for Al-Gazali syndrome; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures; Ehlers-Danlos syndrome, spondylodysplastic type, 2 by Prenatal Genetic Diagnosis Laboratory, The Chinese University of Hong Kong

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_080605.4(B3GALT6):c.1A>C (p.Met1Leu)	rs786200938

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