ClinVar Miner

List of variants reported as uncertain significance for RFT1-congenital disorder of glycosylation by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_052859.4(RFT1):c.1529G>A (p.Gly510Glu)	rs142016662	0.00018
NM_052859.4(RFT1):c.1075G>A (p.Gly359Arg)	rs201876415	0.00003

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