ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, spondylodysplastic type, 1 by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_007255.3(B4GALT7):c.639+5G>A rs1421361359 0.00001
NM_007255.3(B4GALT7):c.685G>A (p.Asp229Asn) rs753374573 0.00001

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