ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome, spondylodysplastic type, 1 by Revvity Omics, Revvity

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_007255.3(B4GALT7):c.791G>A (p.Arg264Gln)	rs375644526	0.00013
NM_007255.3(B4GALT7):c.337C>T (p.Pro113Ser)	rs138496419	0.00003
NM_007255.3(B4GALT7):c.188G>T (p.Gly63Val)

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